Assay ID |
dbSNP |
JSNP |
'Entrez Gene' Gene Name |
'Entrez Gene' Gene Symbol |
SNP Type |
Public Location
Chromosome |
Public Location
Position |
Caucasian Minor
Allele Frequency |
African American
Minor Allele Frequency |
Chinese Minor
Allele Frequency |
Japanese Minor
Allele Frequency |
Celera RefSNP ID |
context
sequence |
Chinese Minor
Allele |
Japanese Minor
Allele |
C__11180591_10 |
rs3027397 |
|
monoamine
oxidase A |
MAOA |
Intron |
X |
3427 |
0.4 |
0.43 |
0.4 |
0.47 |
hCV11180591 |
TGGAATATTGAACTAAATATCTTCCTGCTTTTCCCTAATA[T/C]AGTTTCCTGATAATCATAAAAACATCTACTACAATGAGTA |
G |
G |
C__15959449_10 |
rs2283724 |
IMS-JST033319 |
monoamine
oxidase A |
MAOA |
Intron |
X |
5922 |
0.4 |
0.27 |
0.4 |
0.47 |
hCV15959449 |
GTTGGGATAAAGTGATTTTGTCATATCTTGGAGCAGTTTA[C/T]TAGAAGGGTTCACAAGTTAACTTTGGAATAAAAAACAAGG |
#N/A |
#N/A |
C___9459989_10 |
rs1800659 |
|
monoamine
oxidase A |
MAOA |
Intron |
X |
20515 |
0.32 |
0.46 |
0.38 |
0.48 |
hCV9459989 |
TCTGGGTCATTGCTGGAAAATTCCCCTTCCCCTAAGACAT[C/T]CACCCTTCTGGTTTGGGTAATTCCTAGAAGATACCATCTC |
A |
A |
C____264716_10 |
|
|
|
|
|
X |
136005 |
|
|
0.46 |
0.48 |
hCV264716 |
GTCATTGGTGAGATAAAGTCTTGGTCCAGTGAATGATAAG[C/G]ATGTATTGACACGCATTGTAATTGCTATTTGTTGTCTTTT |
C |
C |
C___1944068_10 |
|
|
|
|
|
X |
154006 |
0.47 |
0.11 |
0.28 |
0.3 |
hCV1944068 |
GGGTCCTTCTCCTTGGACAGTTCCTGTAACTGTTATTGAG[T/C]ATTTTGAACAGCATTGAATATTTTGTTGAATACTGAATAT |
G |
G |
C__11852405_10 |
|
|
|
|
|
X |
171393 |
0.3 |
0.01 |
0.47 |
0.48 |
hCV11852405 |
GAAACATCTCAAATAGCAATTGTAATCTGCTAGGCCACAG[A/T]GGAGGGAAGAAATTAGGTATGTGCCTAGGCAGGATGACCT |
A |
A |
C__11852409_10 |
|
|
|
|
|
X |
172111 |
0.3 |
0.01 |
0.47 |
0.48 |
hCV11852409 |
GACTGAAGTAGGTGTCATTATAGCAACAGTCTTTGTGGCA[C/T]CTAAGGGCTGTTTCAGCAAACCCGAATGCTTTCAGACCTC |
G |
G |
C__11852423_10 |
|
|
|
|
|
X |
181966 |
0.27 |
0 |
0.46 |
0.48 |
hCV11852423 |
CTACCTTGTTTGTTCTTTTGAAGTTCAATTCTCCACTGAT[T/C]CTTTTCTGTATGTATTTTTGACAAATAACAGAGATGGAGA |
G |
A |
C___2617453_10 |
|
|
short
stature homeobox |
SHOX |
|
X |
524364 |
|
|
0.16 |
0.27 |
hCV2617453 |
TAAGGATGTATTTAGGGTTTCAGAATTTTACAGACGTCTC[A/G]ACACGTTTCCTAGACGAACTCTTGTTGTTTTTTTTTTCCT |
G |
G |
C____339697_10 |
rs1894339 |
|
short
stature homeobox |
SHOX |
Intron |
X |
541473 |
0.28 |
0.34 |
0.47 |
0.48 |
hCV339697 |
ACCGGGCTGCAGTGCGCCTGGAGAACCTGATCCTGTTTCC[C/G]AGCAAAGTCATCCTCCCTCACACCCCCGCCAAAAAGGCCC |
G |
G |
C___2617513_10 |
|
|
short
stature homeobox |
SHOX |
|
X |
563979 |
0.37 |
0.48 |
0.26 |
0.28 |
hCV2617513 |
CGTCAGAAAAGAAGAAGAAATGTGGGGCACAAACACAAAA[C/G]TTAGGTGCCACCATTGGTGGTGTTGGGACAGGCGTGGCCA |
C |
C |
C___2617514_10 |
|
|
short
stature homeobox |
SHOX |
|
X |
564025 |
0.13 |
0.43 |
0.11 |
0.18 |
hCV2617514 |
GGCCTCTTGCTGCAGCATGGTTTCCAAGGAATATCACTTG[T/C]ATTTACGTCAGAAAAGAAGAAGAAATGTGGGGCACAAACA |
T |
T |
C__16192598_10 |
rs2316857 |
|
dehydrogenase/reductase
(SDR family) X-linked|zinc finger, BED domain containing 1 |
DHRSX|ZBED1 |
Intron |
X |
1933982 |
0.28 |
0.06 |
0.02 |
0.06 |
hCV16192598 |
AAAATGCTCAAGTGGGAGTTAGGCACAACTTTGAGGAAAA[G/T]AACTGCTTGATGGAAAGAAAGAGACTGATATAGACCAAAA |
A |
A |
C__25648798_10 |
|
|
CD99
antigen |
CD99 |
Intron |
X |
2233629 |
0.16 |
0.34 |
0.16 |
0.03 |
hCV25648798 |
CTCCTCTCAGCTGACATAAATATCGCTGAATTCTGAACAA[T/C]ATGAAGACATCCCACAGGGTCAGAGACTCTTACCGGAGGA |
A |
A |
C____970953_10 |
rs311083 |
|
CD99
antigen |
CD99 |
Intron |
X |
2240496 |
0.42 |
0.1 |
0.4 |
0.43 |
hCV970953 |
CCAAATAGCAGGGCTTACTTCCCAGCTTCACGGCGGATCC[G/C]AATACAAGGTCCCAAAGAGCCTGCCAGCTGACCTAGGAGG |
G |
C |
C____970940_10 |
rs311093 |
|
CD99
antigen |
CD99 |
Intron |
X |
2249043 |
|
|
0.47 |
0.37 |
hCV970940 |
AACTTTTAATGACAGCAGCAGAGACAGCCTCGCCAGTTTA[C/T]GCTACGTGAACTCCACAGTTTCAACTGTTCTCCCTAACCA |
A |
A |
C__11963309_10 |
rs1905995 |
|
glycogenin
2 |
GYG2 |
Intron |
X |
2373656 |
0.23 |
0.38 |
0.17 |
0.22 |
hCV11963309 |
ACTCCACCATTTAGCACACCGAGGGGCTGTCATTATATTC[C/T]TTGCAATCAAATTGGTGTCAATCAAAACTTTACAAAATCC |
A |
A |
C___2271137_1_ |
|
|
glycogenin
2 |
GYG2 |
UTR
3 |
X |
2394609 |
0.05 |
0.25 |
0.29 |
0.27 |
hCV2271137 |
GCTCGCTTTTGCCGACAGCTTCAAGGGTAGAAGTGACCTC[T/A]GAAGAAAGCCCAGAAGGCGTTGGTGGAGAAGTTGGGGCGA |
T |
T |
C___2271153_10 |
rs211657 |
|
glycogenin
2 |
GYG2 |
|
X |
2401719 |
0.2 |
0 |
0.12 |
0.19 |
hCV2271153 |
TGAACCTTGACATATTGCAAAGCCTTGCAAAATAAACTGT[C/T]CTGAGAGTTGCTGAAAAGGGATTGCACCCATAATACCATG |
A |
A |
C___2271164_10 |
rs211639 |
|
arylsulfatase
E (chondrodysplasia punctata 1) |
ARSE |
Intron |
X |
2466604 |
0.46 |
0.13 |
0.33 |
0.19 |
hCV2271164 |
CTTCTCGCTAAGGTTTTCAATAAATTAATCATTTACTTTG[C/T]TGCCAAAAATGCAATCCACTAGGCAAAGTCATATAGGAAG |
A |
A |
C__11872422_10 |
|
|
arylsulfatase
F |
ARSF |
Intron |
X |
2597349 |
0.34 |
0.28 |
0.09 |
0 |
hCV11872422 |
GTATTAGCTGATTGTTTCACGTGAAGAATGCTCACATGGT[C/T]TTTGCAATGTGCTGGCATATGTTGACATATTGATGCGTAG |
T |
T |
C__12112025_10 |
rs1814554 |
|
arylsulfatase
F |
ARSF |
|
X |
2627184 |
0.28 |
0.27 |
0.26 |
0.26 |
hCV12112025 |
AAACAGTGCATTAAGAGGATCAAGTCTAAACGTGGCCACT[C/A]ACCAACCAAAAGGGTTTATGTTTGTCAACAACAGATAGAA |
C |
C |
C___8720954_10 |
rs1205556 |
|
|
|
|
X |
2803242 |
0.23 |
0.03 |
0.26 |
0.24 |
hCV8720954 |
AGTCTTGCAAAGTGGCCTGGTCAAAGTCGACACATCATTT[T/C]CTTGGGGAAATCTTGCATCAGATTTCACCACACATCTGTT |
T |
T |
C___8720929_10 |
|
|
adlican |
DKFZp564I1922 |
|
X |
2815801 |
0.32 |
0.2 |
0.26 |
0.28 |
hCV8720929 |
TCTAAGCATGCTTCTTCAGAATTCAACTCTCCCAAGAGTG[C/G]TTGTGATGCTTAACTTGAACGCACTTTGGAAACCATTGCT |
C |
C |
C___8720895_10 |
|
|
adlican |
DKFZp564I1922 |
Intron |
X |
2827234 |
0.36 |
0.3 |
0.22 |
0.24 |
hCV8720895 |
GACGCTGATTTTGCTCCTACCCTGGGGAGGGACCCACGGT[A/G]AGAGGCTTTCCTGCTCGAGCTACTGAGTGCTGAAGACAGC |
A |
A |
C__11953478_1_ |
|
|
adlican |
DKFZp564I1922 |
Mis-sense
Mutation |
X |
2833863 |
0.4 |
0.39 |
0.43 |
0.31 |
hCV11953478 |
ATGTGCAATGGGAGAGGAATTGTTGTACTTGATAATCTTG[G/A]AGTTGTAAACTGTTTGTTCTCTGGCAAAGCCCCAGAAGGA |
A |
A |
C__11534202_10 |
|
|
protein
kinase, X-linked |
PRKX |
Intron |
X |
3213023 |
0.39 |
0.44 |
0.06 |
0.04 |
hCV11534202 |
TTTACTTTTCCCTTTGAAGGAAGACAAGCTCCCGGAACTC[G/A]CACAGCTGTCCTGAAATGCATCGTATTTAAGGACATGCCT |
C |
C |
C____116404_10 |
rs3848929 |
|
|
|
|
X |
3399092 |
0.28 |
0.23 |
0.47 |
0.4 |
hCV116404 |
GCATCCTTTAATTTTTACAGTGTTGTATCTGGCTACAGCA[T/C]CTTATCAATCCAAACACCTTGGGCAGGTGTTTTTGTTGTA |
G |
G |
C____357317_10 |
|
|
|
|
|
X |
3414835 |
0.2 |
0.39 |
0.36 |
0.32 |
hCV357317 |
ACATGTGACAGTTGACTGATCATGCATATGAGTGGATAAA[C/G]TCAATCATGCATGAATAATTTCAATAAGTCAGGGATAAGG |
G |
G |
C__11851943_10 |
|
|
|
|
|
X |
3426915 |
0.02 |
0.07 |
0.02 |
0.11 |
hCV11851943 |
TGATGGCAACAAGGCCCGTGAAATGCTGGCCACTGGGGAA[C/G]CTCTCCTGAGCCTGGAAACCTGGGGTTTGTATTCAGTCTG |
G |
G |
C____359181_10 |
|
|
|
|
|
X |
3439559 |
0.09 |
0.07 |
0.33 |
0.19 |
hCV359181 |
TGCCACAGATTTGTGACTGTTGATTCATTCATACTTGACT[G/A]TTCAGTCATTTTCCATATCCTCATCACGATACTTATTCTT |
T |
T |
C__11502375_10 |
rs1962417 |
|
|
|
|
X |
3509952 |
0.12 |
0.15 |
0.36 |
0.23 |
hCV11502375 |
TGGAATTCTTTTGAAGTGAACAAAGAAGAGAGAGCTCATT[C/T]GGACGTTTCCTTTTATCCTGCGCCTCTTACTTAAAAGCAT |
G |
G |
C____427535_10 |
|
|
|
|
|
X |
3515007 |
0.43 |
0.4 |
0.16 |
0.14 |
hCV427535 |
TTCTGAAAGTTAGAGTGAGTAATAAAGCAAAAATGGATAC[G/A]CAAACCAGATGTAGATTAGAAAGCTTTGTGTTGCCATTCT |
T |
T |
C____253128_10 |
|
|
|
|
|
X |
3567525 |
0.47 |
0.3 |
0.18 |
0.23 |
hCV253128 |
TTTGTGCTTTGCATAGTGTTTCACTAAATGATAATGTGTC[T/C]TGTTGCTTTCCAAACTTTTCATGTTTCAGCCTTATTATCT |
A |
A |
C____358014_10 |
|
|
|
|
|
X |
3602965 |
|
|
0.12 |
0.13 |
hCV358014 |
ATTTAACATTAAGAACCCAGGTTTGAGTCAACCAGGAAAA[G/T]AAAAGTGGAATTCCACAGTATGGTCATGCATCTTAGTAGA |
A |
A |
C___7427666_10 |
|
|
|
|
|
X |
3747996 |
0 |
0.36 |
0.4 |
0.5 |
hCV7427666 |
GTTATAACACACAAAGCAAAATAAACCTACCAGGCAGCCG[C/T]AGGAATCATACACAGGGGTCATATGAGAAAACAAAAAACA |
A |
A |
C___1812022_10 |
|
|
|
|
|
X |
4158826 |
0.42 |
0.44 |
0.33 |
0.41 |
hCV1812022 |
ATAGTATCCCACACATGCCCATTAAACAAATGGCAACATT[T/A]CATTAAGGGTGCTGTTACATAATATTTTTACCCCAACTAC |
T |
T |
C___1812028_10 |
|
|
|
|
|
X |
4159973 |
0.4 |
0.43 |
0.33 |
0.4 |
hCV1812028 |
TCACTGAGTTTACTAAAATCAAAACTTACACTACCAGCCA[T/C]GTATGTAGTAATAGCAGTCTTTAGCAATATGGGTAATTAT |
A |
A |
C___1812031_10 |
|
|
|
|
|
X |
4160168 |
0.42 |
0.45 |
0.35 |
0.41 |
hCV1812031 |
TCCTTCTCCAAAACCAACTCCATCCTTGACTGGCCTCTTC[C/T]GTCTGATGGTCAGGGACTGATGAATAAAAAAATAGTTACT |
G |
G |
C___1944143_10 |
rs1026907 |
|
|
|
|
X |
4983052 |
0.32 |
0.04 |
0.28 |
0.48 |
hCV1944143 |
TCAAGACCTTCAACCAAGAGAAAGGTAACTGGGCAACATC[A/G]CACACTACCCTTGGCAACTTAAGCATTTGTCCTGACAGGT |
C |
T |
C__11726540_10 |
rs1881315 |
|
|
|
|
X |
4996924 |
|
|
0.12 |
0.07 |
hCV11726540 |
CATGTAAGAAAATTCCTAGAGTTTTACCTGTGCAGAAGAC[T/A]GTATCTCTTGTGAATTTAAGAATGACACATATAGCTCTCC |
T |
T |
C___7557484_10 |
rs900390 |
|
|
|
|
X |
5100469 |
|
|
0.07 |
0.14 |
hCV7557484 |
TCAGAATGTTTCATAAGTAGCTAACCACTTCCATGCATTT[C/T]CAGGTGGGGAAAAGTTTATAATAAACTTGTAAATTTCTTG |
G |
G |
C___1861155_10 |
rs1482814 |
|
|
|
|
X |
5231702 |
0.41 |
0.07 |
0.19 |
0.36 |
hCV1861155 |
TTTACCTATTGTCATTTTCCAGTGACGAGGCCAAGTCCTA[T/C]TGACTTTCACCCAAAGCACAATACAGGCTGCACTTTTCAA |
A |
A |
C____300837_10 |
|
|
|
|
|
X |
5259181 |
0.22 |
0.4 |
0.07 |
0.17 |
hCV300837 |
TAGCATTTGCAAGAGTCTGTCAGAACAAATATGCAATCGT[G/T]GTGTTTCAAAAGAAAAGTTCGTATGCTCTAGAGAGCTTCA |
C |
C |
C__12032186_10 |
rs1921361 |
|
neuroligin
4 |
NLGN4 |
Intron |
X |
5350143 |
0.33 |
0.29 |
0.45 |
0.4 |
hCV12032186 |
TCTAAACTGTTGGAATGGGGATATACTTTCATCCCTACCT[T/C]AAGAAATTCATTCTTCTTACTCTCCAACTTTAGGTAACAT |
G |
G |
C____414375_10 |
rs1921938 |
|
neuroligin
4 |
NLGN4 |
Intron |
X |
5522419 |
0.41 |
0.19 |
0.49 |
0.38 |
hCV414375 |
AAAAGGACTAAAGTTAGGAATAAAGCAGAATGATAATAGT[G/T]GGCTCTTTTTAAAAATGTTATTCCTCCCAAAATTCCCTTT |
A |
A |
C____417837_10 |
|
|
neuroligin
4 |
NLGN4 |
Intron |
X |
5560639 |
0.46 |
0.37 |
0.34 |
0.21 |
hCV417837 |
TCTGTGCTTAGGATGGAACTTAATTTTCAGTCTCCCTGGT[G/A]TATCAGCTGCTATCAGAAATATGAGGGTAGGCCTGTGGGG |
C |
C |
C_____93738_10 |
|
|
neuroligin
4 |
NLGN4 |
Intron |
X |
5570484 |
0.44 |
0.38 |
0.35 |
0.19 |
hCV93738 |
TGAGAGGTTTACATACAGTGAGTCAGACAGGTGACCTTCA[C/T]CTGTGTTTGTCTACTTTATGAGATGTACCCCGAAGTGTGG |
G |
G |
C__11502846_10 |
rs1882409 |
|
neuroligin
4 |
NLGN4 |
Intron |
X |
5595317 |
0.47 |
0.22 |
0.31 |
0.34 |
hCV11502846 |
TTTAGTAGACACTGAAGCATATTTTTACCTTTCCAAATTG[A/G]AAGTGGATAACAAGGTAACAATAGCACTGTCCCTGGAGCC |
T |
T |
C___9222279_10 |
|
|
neuroligin
4 |
NLGN4 |
Intron |
X |
5597034 |
0.49 |
0.09 |
0.32 |
0.33 |
hCV9222279 |
ATAAATCCTGGAAGGTTATTTTACTGGTGAAATTGTCATG[G/A]CAGACTGAATCATAGTACACAACCACTGTCACACAAATTC |
C |
C |
C___7427161_10 |
|
|
|
|
|
X |
5770807 |
0.38 |
0.41 |
0.11 |
0.11 |
hCV7427161 |
CAATTAAATCTTAAATGTTCTGAGATTATCTGTCTGCCGA[G/A]ATAAGACATGATGTCTTTAAATTATAAGATCAAAGATTCC |
C |
C |
C___9222307_10 |
|
|
|
|
|
X |
5773104 |
0.38 |
0.5 |
0.14 |
0.14 |
hCV9222307 |
CTGGCTTCCCACAACATATGTATTGACCAACTTCTATACA[T/G]CCATTACTTTTTTGGGGCGGTCTTCCCTGACCCTAATTTA |
C |
C |
C___9510952_10 |
rs1108834 |
|
|
|
|
X |
6186290 |
0.1 |
0 |
0.36 |
0.34 |
hCV9510952 |
CAGGAAGCATGAGTGCTAGATCCATGACCCTGTATTTCCT[G/T]AGAGAGAACATGCAGAAGGCTCATGTTGGAGCAATGCATC |
A |
A |
C__12117762_10 |
|
|
family
with sequence similarity 16, member A, X-linked |
FAM16AX |
UTR
3 |
X |
6429516 |
0.38 |
0.45 |
0.4 |
0.21 |
hCV12117762 |
TGAATGTACATGTATATACACACACACCTCCATATATACA[C/T]GTGTGTATCAGTTTGGTAATATGCAGGTAGGCATTACATG |
A |
A |
C___9474605_10 |
rs868756 |
|
family
with sequence similarity 16, member A, X-linked |
FAM16AX |
Intron |
X |
6437287 |
0.41 |
0.45 |
0.41 |
0.22 |
hCV9474605 |
CAGGGCTGCCGGGATCCCTTCTCAGCGCTCCTCCTTCTGT[G/C]TAATCAACTGCTTCTCTGCTCTGATGACACCTGACCGCAC |
C |
C |
C____353573_10 |
|
|
family
with sequence similarity 16, member A, X-linked |
FAM16AX |
Intron |
X |
6444473 |
0.34 |
0.39 |
0.3 |
0.49 |
hCV353573 |
CAGAATTCAGCAAGTGATAGTTTCTTAAGAGTTAGTTGCT[A/T]TGTGGAAATTGAAGCCCTATCAGTAACCTTTTCCTCCTCG |
A |
T |
C____139617_10 |
|
|
family
with sequence similarity 16, member A, X-linked |
FAM16AX |
Intron |
X |
6447893 |
0.31 |
0.38 |
0.26 |
0.48 |
hCV139617 |
AGTCACTGATTCTGTAGGTAAAGAAACAGATTCACACCAA[G/A]GGACTCAATTCCCCTCTGTAAGCTTTTATTGAACCTTTCG |
T |
T |
C__12117785_10 |
rs1534275 |
|
family
with sequence similarity 16, member A, X-linked |
FAM16AX |
Intron |
X |
6469105 |
|
|
0.42 |
0.19 |
hCV12117785 |
GAATTTGTGTTTCAAAAAAAAACAAAAGGCAGGATAAAAC[A/G]AAGAGCTAAAACACCACAGAGCAGGTTGAAATCCCGGATG |
C |
C |
C___9481579_10 |
rs878561 |
|
family
with sequence similarity 16, member A, X-linked |
FAM16AX |
Intron |
X |
6489809 |
0.35 |
0.26 |
0.42 |
0.18 |
hCV9481579 |
TATAAAATGTTACTTGATTTGCAGCAATTACCCAGTCTCC[A/G]CCTTAGACAGAAACTTAGAGGCCATCGGCCTAGACTTCCT |
C |
C |
C___9481575_10 |
rs1125438 |
|
family
with sequence similarity 16, member A, X-linked |
FAM16AX |
Intron |
X |
6519182 |
0.25 |
0.14 |
0.33 |
0.3 |
hCV9481575 |
TTTGACTCCCAATAGACTGTTCCATGTGTCTATGAAGTAA[G/A]AGCAAATGGTCATAGTTGGCACATCGAAGCTTATCTGAGC |
T |
T |
C____300970_10 |
|
|
family
with sequence similarity 16, member A, X-linked |
FAM16AX |
|
X |
6528109 |
0.26 |
0.04 |
0.12 |
0.1 |
hCV300970 |
TCCTGACCAAGGCCATTTGTCTGCAACCTGATGGCTAGAA[G/C]TGATACCACCCTGAGCATCTTCAATCCCCTTTCCCCACTC |
G |
G |
C__12117815_10 |
rs2024159 |
|
steroid
sulfatase (microsomal), arylsulfatase C, isozyme S |
STS |
|
X |
6627717 |
0.27 |
0.15 |
0.32 |
0.31 |
hCV12117815 |
GGCAACAATTCACTAAGACACTATATTATCTGAATTGACA[G/T]TTTGCAAAGACAGACAAAGGGTATGCACTGCAAATGATAG |
A |
A |
C__15871410_10 |
rs2240587 |
IMS-JST012191 |
|
|
|
X |
7284408 |
|
|
0.1 |
0.11 |
hCV15871410 |
AATTGTCCTTAAGAAAAATAGCTGCTGGTCTACCCCGTTA[C/G]AGTTTTCCTGTGTGTTTGTCAGTTTTCATCACATATCACC |
C |
C |
C___8790837_1_ |
rs1016056 |
|
|
|
|
X |
7296912 |
|
|
0.07 |
0.14 |
hCV8790837 |
GAACTCAGTAGCAACCATTTCCTGAAGTATTACAGATATC[G/A]GTTAGCACATTGTTCATGAAGACAGGTAATAAGCAAGGGG |
A |
A |
C__10047174_10 |
rs1037527 |
|
|
|
|
X |
7531529 |
0.38 |
0.34 |
0.23 |
0.23 |
hCV10047174 |
AGTGATGGCTTCAACATGCACAGGTCATATGACATTTTAA[G/A]TATTTCGTTGTATTTTCAGTTTTTACTTTTAGCTAACTGA |
A |
A |
C__11532414_10 |
|
|
|
|
|
X |
7658362 |
|
|
0.22 |
0.2 |
hCV11532414 |
GGCACTATCATCGGTAAACTCCATTTTCTCTGGTTTGTTA[A/G]GGTTCTCTCTATAAACTTTCTGTTTTCCCCATCTTCCATT |
A |
A |
C__11532444_10 |
|
|
|
|
|
X |
7658422 |
|
|
0.22 |
0.2 |
hCV11532444 |
CTGTTTTCCCCATCTTCCATTCAGTGTACTAAGGGGTAAT[T/C]GATTGTTCCTACTCCTGTCAGTTCTACTCAGCAGGACACA |
T |
T |
C___9483829_10 |
rs941108 |
|
|
|
|
X |
7829033 |
0.42 |
0.46 |
0.29 |
0.29 |
hCV9483829 |
TCAATGAATGGCTCCTTCATTCCCTTGGCAAGTATCATTT[T/G]AGTGTGTCTTGTCACGGTTTTGGACTAGACAGAACTAATT |
T |
T |
C__11961107_10 |
rs1852398 |
|
|
|
|
X |
7890536 |
0.22 |
0.16 |
0.16 |
0.09 |
hCV11961107 |
CTGGGCAGAGAAGGCCACCTCCCTTAGTGTTGCAGGCAAC[A/G]TTGCGCTCCGCCAGTCCTGCTCTGTGAAGCTACTGTAGTT |
G |
G |
C___9484156_10 |
rs808127 |
|
Kallmann
syndrome 1 sequence |
KAL1 |
UTR
3 |
X |
7910484 |
|
|
0.02 |
0.08 |
hCV9484156 |
AATTCAGATGCTGGTAATGACACCAGAATAAAAAAGAGAA[G/A]CTATCTATGGTATCCATTTATTCAAGCTTAGGGATGTTTT |
A |
A |
C____359059_1_ |
rs2284306 |
|
Kallmann
syndrome 1 sequence |
KAL1 |
Intron |
X |
7944133 |
0.29 |
0.24 |
0.23 |
0.09 |
hCV359059 |
GATACTGTGACCACATATGTAGATAATCCATGGTCTCTGA[T/C]GTAGATGAGATTTGACTTCAGTGGATGCAGGTATCTGAGT |
T |
T |
C__11889934_10 |
rs3764841 |
|
Kallmann
syndrome 1 sequence |
KAL1 |
Intron |
X |
7976223 |
0.38 |
0.43 |
0.36 |
0.18 |
hCV11889934 |
CCAGTATATTTGTTATGCATTTTTCAAGTGTGCTTCATCT[C/G]CCAGCCTATTTTCTAAGGATTTAAATCGATTTATTCCAGT |
G |
G |
C___2576837_10 |
rs1610050 |
|
Kallmann
syndrome 1 sequence |
KAL1 |
Intron |
X |
7987536 |
0.35 |
0.43 |
0.39 |
0.22 |
hCV2576837 |
GACAAAACTTTAAAGACCAGTCATCAATACTGATGATTTA[G/A]GCAAGTAAAAGTGATGTGGAAAACAGAAGAAAAAGAGAGA |
A |
A |
C___2576835_10 |
rs1610048 |
|
Kallmann
syndrome 1 sequence |
KAL1 |
Intron |
X |
7987630 |
0.42 |
0.4 |
0.38 |
0.21 |
hCV2576835 |
AATACAGCCTGTCCCCTTCAGAGCTTGACAAATACACAAG[C/T]AAGATAACTGCTGTACAATTTGGGGGGCAAAATTAATTTG |
T |
T |
C___2576804_10 |
|
|
Kallmann
syndrome 1 sequence |
KAL1 |
Intron |
X |
8016336 |
0.42 |
0.25 |
0.43 |
0.3 |
hCV2576804 |
CCTGTCTCCCTTGCCAGATCAAATCACCCCAGCTTTGTCA[A/G]CATGAAAGCTCCTCTAAGACATTAGTGCATCCCTGAGCAA |
G |
G |
C____346765_10 |
|
|
Kallmann
syndrome 1 sequence |
KAL1 |
Intron |
X |
8053117 |
0.48 |
0.39 |
0.42 |
0.31 |
hCV346765 |
AGAGCCAGAACAGCCTGGTGGGACGTCAGCCTTCTAGATT[T/C]AGCATGACATGGGCAGCAGTGCAGTTCTGAAGAACTCCCC |
T |
T |
C__15849740_10 |
rs2188935 |
|
family
with sequence similarity 9, member A|family with sequence similarity 9,
member A|family with sequence similarity 9, member A |
FAM9A|FAM9A|FAM9A |
Intron |
X |
8173130 |
0.44 |
0.36 |
0.41 |
0.35 |
hCV15849740 |
TAATTTAAAATGCATAACCAAAATGTCTTTCCATACATTC[A/G]GAAACAAACAGACTTTCTTCTGTTATGCACGTGTTGTATT |
G |
G |
C__11910784_10 |
rs879351 |
|
family
with sequence similarity 9, member A |
FAM9A |
|
X |
8212905 |
|
|
0.43 |
0.31 |
hCV11910784 |
ATAGAGCTGATCACACAATGTTCAGGGATGTTCTGAACAC[C/G]AGAGTTTCTGTATTTAAACCACTTGGCACATGATATCAAA |
G |
G |
C___9528195_10 |
rs1232140 |
|
|
|
|
X |
8244118 |
0.27 |
0.36 |
0.48 |
0.38 |
hCV9528195 |
TGTCTGACCTGGCTTTAGTGGAGTGAGGGAAAGCAGGAAA[C/T]AGTCTCCCAAAATTCCTGAACCTTAAATTCTCATTTGTAC |
T |
T |
C___9528200_10 |
rs1232146 |
|
|
|
|
X |
8255304 |
0.22 |
0.26 |
0.45 |
0.4 |
hCV9528200 |
ATGAATAGTTACAATTGTAGCTGTGGGCATTGACATAGCC[A/G]TAGGTTTAGGTGCATGTATAGAGGTAGGTGTAAACATACA |
G |
A |
C___9528203_10 |
rs1232149 |
|
|
|
|
X |
8256236 |
0.19 |
0.09 |
0.47 |
0.36 |
hCV9528203 |
ACTTTCCAAGAATATTGAACTATAAGTTATTTAAAGGCAT[T/A]TTAAAAATCAGGTAGCCATGGCAACCAGCTGTCATGACAC |
T |
A |
C___9528228_10 |
rs1232124 |
|
|
|
|
X |
8280964 |
0.22 |
0.25 |
0.45 |
0.4 |
hCV9528228 |
GTCACGTGCCCACTCCAACCTTATAAAGCTGGTTTTTTAA[G/A]TAAAATGAGACTTTGGACGACACTCAGCAATGGCATGGAA |
G |
A |
C__11961065_10 |
|
|
|
|
|
X |
8428354 |
|
|
0.46 |
0.42 |
hCV11961065 |
TACTCTGATACTCTCGTATTGAATACTTGCTATTTGTATG[C/A]CACTATGTTACATGTTTTAGGGGATGGAAAAGTGTCCTTG |
C |
C |
C__11961223_10 |
rs1876415 |
|
|
|
|
X |
8447538 |
0.23 |
0.2 |
0.49 |
0.48 |
hCV11961223 |
CACATTAAAGTGGCCCACGAAGTTGAAAATATGTACCATC[A/G]GGCTTTTAACAGAAAAACTGCCAACCCTGGTATAGGACAT |
A |
G |
C___2182204_10 |
|
|
|
|
|
X |
8779375 |
0.46 |
0.46 |
0.2 |
0.07 |
hCV2182204 |
ATTATTGCAAGGATGGAATTCGCTGCTATTATGTCTAGCT[A/G]AGCACACCCTGTTGCTGCCCCCAACTCCCATCTCCCCCCT |
G |
G |
C____305782_10 |
rs4830644 |
|
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
8846313 |
|
|
0.38 |
0.3 |
hCV305782 |
TTTACAAGTCCTTCCTAGAAAAGATGTAATTAGGAAAAAT[G/A]AAATACAGAAGAACGTTGAGTATGACGCGTTTATTTTAAA |
A |
A |
C__11890681_10 |
|
|
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
8872488 |
0.18 |
0.14 |
0.07 |
0.06 |
hCV11890681 |
GAGGAAGGAATGGAAGGATGAAACCATTTGGGAATGTGCT[A/G]GAAGACATGCTTTTGAGGACAAGCAATGCGATTTTGGCAT |
A |
A |
C___2258630_10 |
rs756947 |
|
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
8898367 |
|
|
0.42 |
0.45 |
hCV2258630 |
TTAGCTTCGGAGAGCCACTTAGCCTGAAGACCCTCCTTAC[C/T]CCGTTATCATAGAACCAGAGTGGTAGCCACACACGCAGAC |
T |
C |
C___2258629_10 |
rs756946 |
|
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
8898401 |
0.49 |
0.47 |
0.39 |
0.47 |
hCV2258629 |
CCTTACCCCGTTATCATAGAACCAGAGTGGTAGCCACACA[C/G]GCAGACTGTTCATGCTGACGTGTAAGGCAGGGCCTTACAC |
G |
C |
C___2546550_1_ |
rs739560 |
IMS-JST019838 |
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
8906545 |
0.19 |
0.41 |
0.07 |
0.08 |
hCV2546550 |
CTCCCCTGTGCATTTAGAAAGGCCCCGCCACACGGAACCA[C/T]TGGGAAGCTGAGGCTTGGAGATTGCGTGGGATTTGAGATG |
T |
T |
C__11890687_1_ |
rs2028052 |
IMS-JST019848 |
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
8932121 |
0.48 |
0.32 |
0.46 |
0.47 |
hCV11890687 |
GGCCATAGACCTTGTGAGTACGGAGTCCTAAAAGAAGGCA[C/G]AAATGTGTGAATCTGCCAAAAGTAAAGAAAGGGTGTTACT |
C |
C |
C___2546531_1_ |
rs2238860 |
IMS-JST019851 |
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
8957689 |
0.42 |
0.13 |
0.45 |
0.42 |
hCV2546531 |
GGGATGACCACGCTGCACAGAAGTGTTCTCATCACTTTTG[C/T]GCTTGCTTATTTAACCCATGATTGTTAGAAAGCGTTTAGA |
T |
T |
C___2546515_1_ |
rs2074034 |
IMS-JST000726 |
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
8997395 |
0.33 |
0.26 |
0.26 |
0.35 |
hCV2546515 |
ACACTTGTGTAGAAAGTGAAAACTGAGTTTGAGGGAACAG[T/A]CACATTCTCATGGCAATAAGGTGGGTAGAATGGGCCGCTC |
T |
T |
C___2548145_10 |
rs2732880 |
|
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
9058659 |
0.49 |
0.46 |
0.31 |
0.17 |
hCV2548145 |
TCTGTTACTGTGTGTTATGTTATCTAAGGTCTATGACCAA[C/T]TGCATGCAGAGGGTGGCTTGCTTTTCAATAGCAACAACCA |
C |
C |
C__16174806_10 |
rs2239410 |
IMS-JST010552 |
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
9075858 |
0.38 |
0.15 |
0.23 |
0.31 |
hCV16174806 |
TTAATTGGTCTAGAACTGACCCAAAACCCAGGAGTACCAA[G/A]TTTCAAAGACACTCACTGCTTGCTTTCCTCTGAAAATGTC |
A |
A |
C___2259403_10 |
rs733071 |
|
transducin
(beta)-like 1X-linked |
TBL1X |
Intron |
X |
9086830 |
0.38 |
0.44 |
0.07 |
0.02 |
hCV2259403 |
CCAGGGGTCCCTGTCCCAAAGGAAGGCGCTTTTAGAGCAC[A/G]GGCACCTATCGTCCTGTTAACATCTGTTTGGCTCCAAACT |
A |
A |
C___2259590_10 |
rs757018 |
|
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9168803 |
0.45 |
0.3 |
0.38 |
0.5 |
hCV2259590 |
CCACAGTGGCTGTTCAGAATCAGGACTGACTACTCTCTGG[A/G]TCTAGTTTGAAGCTAAAGGGATACCAACTTCAGAGGAGTA |
A |
A |
C___2548513_10 |
|
|
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9207256 |
0.43 |
0.22 |
0.09 |
0.08 |
hCV2548513 |
ATGGAATGCACTCTTCTGCCTTGGGGAGCAGGGAGACCAA[T/C]AGACCCAAGCAGTTCTGGGAAAGTAAGTGGTGCTGCTGTG |
T |
T |
C___2548515_10 |
|
|
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9215847 |
0.44 |
0.12 |
0.09 |
0.09 |
hCV2548515 |
TCAGTTTTCTCTCTAAAAAGAGGGGAACCCCTGGCAGCAT[A/T]GTGTCTGGAGTCTGCAGGGCCTCAGAGATTGCTGGACACA |
A |
A |
C___2548530_10 |
|
|
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9229084 |
0.26 |
0.28 |
0.07 |
0.09 |
hCV2548530 |
CTAGGAGTTTGAGCAGTAACCAAAGTTTCCTCTCTGCTGA[A/G]TGCTCCTGGGGTCCATCCCTCTGGGGTGATGGCAGGCAGC |
G |
G |
C____342275_10 |
rs723259 |
|
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9250703 |
0.02 |
0.29 |
0.07 |
0.08 |
hCV342275 |
CAGATGTCTGTAACTTGCCTCCTTATACACACCTCATTTT[T/C]ACTGTCTTTCCCACCCTGCCTGGATACTCTTATTTGGTTC |
T |
T |
C___2179304_10 |
|
|
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9268757 |
0.13 |
0.12 |
0.49 |
0.34 |
hCV2179304 |
TTATACTTTCTCTTTGGTTCCTGGGAAACTGTCATAAAGT[C/G]AGCATGTTCCACATTTTGCCACCCGTATACTTTTCCTCGT |
G |
G |
C___2179312_1_ |
rs2283700 |
IMS-JST033290 |
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9287361 |
0.26 |
0.29 |
0.09 |
0.17 |
hCV2179312 |
GTTTTTTTAAATAAAGTTTTATTGGCATGCAGCCACATCC[A/G]TTTGCTCACAGGCGGCCTGTGGCTGCTCCCTCTCTATAAT |
G |
G |
C__16174842_10 |
rs2239423 |
IMS-JST010565 |
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9297699 |
0.08 |
0.14 |
0.47 |
0.3 |
hCV16174842 |
AGTCTCTGTGAACAGGTCTTCAGGTGACATCAGTGTGTTA[T/C]CTCCCTGGTTAGCAATTAGCATTCCCGAGGTCGGGTGCTG |
T |
T |
C__16173349_10 |
rs2238886 |
|
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9313881 |
0.4 |
0.18 |
0.12 |
0.12 |
hCV16173349 |
|
#N/A |
#N/A |
C___2179324_1_ |
rs2238888 |
IMS-JST019879 |
apical
protein-like (Xenopus laevis) |
APXL |
Intron |
X |
9325258 |
0.36 |
0.22 |
0.5 |
0.4 |
hCV2179324 |
TTCTTGTGGTGGTTGTAGCTGTGATTTAACAAGAGGGCAT[A/G]TATCAGTCTAGAAGGAAGCAGACAGTGCATCTAACTTCAA |
A |
G |
C__11890112_1_ |
rs2073942 |
IMS-JST000600 |
apical
protein-like (Xenopus laevis) |
APXL |
Mis-sense
Mutation |
X |
9326452 |
0.34 |
0.21 |
0.47 |
0.39 |
hCV11890112 |
ATAAAATCCACCTTGGTGAAGAGCAGCTGAAGTGCTTATT[C/G]GACAGCCTTCAGCCCGAAAGGGGCAAATAAGAGACCAGTC |
C |
G |
C___2614308_1_ |
rs2285492 |
|
KIAA1280
protein |
KIAA1280 |
Intron |
X |
9478454 |
|
|
0.21 |
0.16 |
hCV2614308 |
CTCTACCCCTCCTTCCCTTCCCTCCTTCCAATAGACGAGC[A/T]TCAGTTCCAGAGGGTGTCATAAGTGAAACCACTTGATCTT |
T |
T |
C___2287353_10 |
rs756827 |
|
KIAA1280
protein |
KIAA1280 |
Intron |
X |
9490701 |
0.17 |
0.16 |
0.03 |
0.09 |
hCV2287353 |
CTTCTGTTCCACCCCTGGTATTCTTGTATGTGTGTTCTGC[A/G]TAGGAGGGCCTGGGAGTTCCTGTTGCTTCTCTGTGAAGGG |
G |
G |
C____339544_10 |
rs2023676 |
|
KIAA1280
protein |
KIAA1280 |
Intron |
X |
9515834 |
0.09 |
0.29 |
0.19 |
0.3 |
hCV339544 |
AAGCCACAAATACAGCACATGAGAAAGACTGAGGAAAAGT[G/C]AACCGTGCTGAGGGCAGCGCTAGCCTTCATGGGGGCTGTA |
G |
G |
C___9528006_10 |
rs7995 |
|
KIAA1280
protein |
KIAA1280 |
UTR
3 |
X |
9523843 |
|
|
0.12 |
0.11 |
hCV9528006 |
ACCACATGTAAAAGGGAATTTGGCTTTCACTTCATCTAAT[A/C]ACTGAATTGTCAGGCTTTGATTGATAATTGTAGAAATAAG |
A |
A |
C____334314_1_ |
rs1007743 |
IMS-JST011306 |
chloride
channel 4 |
CLCN4 |
Intron |
X |
9546444 |
0.47 |
0.39 |
0.05 |
0.11 |
hCV334314 |
CATTGTGTCACCCGAGGCCACATGTGGTTGGCCTCATCCT[A/G]TTTCCAACACGTGGGCTGGGTTTCAACGTGGAACGAATGG |
A |
A |
C___2614338_1_ |
rs2239941 |
|
chloride
channel 4 |
CLCN4 |
Intron |
X |
9554510 |
|
|
0.17 |
0.16 |
hCV2614338 |
TTCCTGAGCTTTGTTAATTTACTTCTGCCCGTTTTTGAAC[A/G]TGATGTAAACGGGATCACACAGAGTGTTTGGATGCATCCG |
A |
A |
C__16163498_10 |
rs2073938 |
IMS-JST000596 |
chloride
channel 4 |
CLCN4 |
Intron |
X |
9564879 |
0.21 |
0.07 |
0.15 |
0.14 |
hCV16163498 |
AGAAAAGAGCCAGTGGGAGGAGCAGATATATTGGCAGATC[A/G]TTGTACTAGCAGGAGCTTTGGGCAGGACGTTGTGTCATAT |
#N/A |
#N/A |
C___9527991_10 |
rs1003368 |
|
chloride
channel 4 |
CLCN4 |
Intron |
X |
9591488 |
0.44 |
0.2 |
0.24 |
0.3 |
hCV9527991 |
GGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGC[T/C]ACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCTTT |
T |
T |
C__16174851_10 |
rs2239428 |
IMS-JST010571 |
chloride
channel 4 |
CLCN4 |
Intron |
X |
9594126 |
0.38 |
0.2 |
0.17 |
0.29 |
hCV16174851 |
ACGAGTTCTCTGCCCCAGACACCCCTTGCCACCACACAAG[A/T]CTTTTGCTTCACTTTGTGATATGATGTCAGATTCCACAGT |
#N/A |
#N/A |
C___2616138_1_ |
rs2239431 |
IMS-JST010574 |
chloride
channel 4 |
CLCN4 |
Intron |
X |
9601646 |
0.44 |
0.31 |
0.04 |
0.14 |
hCV2616138 |
TGTTTGAAACAACTTTGTTTTCGAAACAAACATGATTGGA[C/G]AATGGAGAGATTTGATGGCCCCATGGCATTGTCCCTGCTG |
G |
G |
C___2616135_1_ |
rs2269815 |
IMS-JST024124 |
chloride
channel 4 |
CLCN4 |
UTR
3 |
X |
9613848 |
0.44 |
0.31 |
0.04 |
0.17 |
hCV2616135 |
ACTGGCATCCTGGGACTGCACGATGAACTATTGGAGCATA[T/C]AGTACTGCGGTGTGTCTCCTCCCATACAAAGGGACACATC |
C |
C |
C___2616133_1_ |
rs2240018 |
IMS-JST011418 |
chloride
channel 4 |
CLCN4 |
|
X |
9616317 |
0.38 |
0.2 |
0.24 |
0.42 |
hCV2616133 |
TTTTTCCTCTTCCAGAACCAAAGGCTTTAGACATTTGTAG[A/G]ACTTTCTGGATTCCTTCTGAATCGGGTTTTAACATAAAAA |
A |
A |
C___9527956_10 |
rs886259 |
|
|
|
|
X |
9645564 |
0.38 |
0.05 |
0.25 |
0.43 |
hCV9527956 |
AGTTAATGCTGGGTATGGTGGGGGAGACCTCATCCTTTGA[G/T]GGAATGAGTAAGTCATGAGGAGCCCTCAGCTTACCCCAAA |
G |
G |
C___9527903_10 |
rs1541354 |
|
|
|
|
X |
9659417 |
0.16 |
0.38 |
0.02 |
0.11 |
hCV9527903 |
CTTTTGTAACATGACCAAGTGGCAGGGGATGAGCTGGGCT[A/G]AGAATCTGACATCCTGAAAGAGTACTTATCCCTCCACCCA |
G |
G |
C___2768596_10 |
rs1558942 |
|
|
|
|
X |
9753017 |
0.44 |
0.4 |
0.19 |
0.18 |
hCV2768596 |
GATAGAAGGAAAGAAGAATCTCGATCACATAATTTTGAGA[T/C]TTCTACTTTACGTTAAGCTGGGTGCCCCCAGTTCTGATTG |
C |
C |
C__16157478_10 |
rs2213217 |
|
|
|
|
X |
10367638 |
0 |
0.07 |
0.12 |
0 |
hCV16157478 |
GTGCCTCTTTGCCAGGTTGTTTCTTCCTCCTCTACTAATT[A/G]GTCTAGTTTTCCCTTTAAGGCACGTAGGAATTATCAGTTA |
A |
A |
C___2190959_10 |
|
|
Rho
GTPase activating protein 6 |
ARHGAP6 |
Intron |
X |
10623036 |
|
|
0.08 |
0.06 |
hCV2190959 |
CATCAAACAAGATAGTAATAGTGAAAGTAATAACTTGTAA[A/T]GAAGATTGACTTATTAAAGTTACCCATTTAATGCATAACT |
A |
A |
C___2190970_10 |
rs916684 |
|
Rho
GTPase activating protein 6 |
ARHGAP6 |
|
X |
10697291 |
0.38 |
0.44 |
0.07 |
0.02 |
hCV2190970 |
GAAATGACACCGGCCCCACCTTAGAGCAGGATTCCATAGT[A/G]CAGCTTTACATGAAGGATGGCAAGTAGAATGGCTCATTTT |
G |
G |
C___2190988_10 |
|
|
Rho
GTPase activating protein 6 |
ARHGAP6 |
|
X |
10805030 |
|
|
0.09 |
0.02 |
hCV2190988 |
ACATTCTCTGGACACGTGACTGATTCAGAGCTGCTGCTTT[A/C]TCATCCTAAAGTATGCATAGGAAACTTCAGAGAGCCCGGG |
A |
A |
C____274461_10 |
|
|
|
|
|
X |
10865227 |
0.03 |
0.23 |
0.09 |
0.19 |
hCV274461 |
AAATGAAAATATAATTTTATATGCCATACCCATTCACACA[C/T]GCACTGCTCATTTTCCCTGTGATGACTTGGGGCAGGATTG |
C |
C |
C____274462_10 |
|
|
|
|
|
X |
10865367 |
0.38 |
0.44 |
0.17 |
0.22 |
hCV274462 |
AAGGGATTTTTTCCACAAGAATTTAGCTAGCTGGTGAGAG[A/G]AGGAAAACATCGAACATTGCTTCCTGACCCCTGGGGGCCT |
G |
G |
C____358819_10 |
|
|
|
|
|
X |
10934417 |
0.34 |
0.36 |
0.09 |
0.03 |
hCV358819 |
TTTTCTTTTTTGCTCTGCTTCACCACATTTTTCAGTCACT[T/C]TGTTTTCCTTCCTGCGTTTTGACACTTTATCAAACTGTAC |
A |
A |
C____193682_10 |
rs1358276 |
|
|
|
|
X |
11269942 |
0.39 |
0.23 |
0.14 |
0.32 |
hCV193682 |
CCTTTCCCAAGGTTCCCAGGAGCTCTGAATGCACATTAAA[G/A]TGTGCCGAGACTCTCCTGCTCTTTTTACTTCTGCAACTGA |
A |
A |
C___2258961_10 |
|
|
|
|
|
X |
11374414 |
0.11 |
0.03 |
0.25 |
0.24 |
hCV2258961 |
ACACTTAGTCCATAGACTTCTAGAAGACATCAGTTCTGTA[A/G]GAATTGATGCTTAGTCTTTCATTCCAGCTCTGCTTCCATG |
G |
G |
C___8335104_10 |
rs961420 |
|
|
|
|
X |
11880160 |
0.47 |
0.19 |
0.23 |
0.11 |
hCV8335104 |
GTATGCCCTTGAACATGACTGGAAAGTGGCCCCCTGGCTT[C/T]CCAAGGCTTTCCTAAGGATATGCTCACAGAGATACTATCA |
T |
T |
C___2112019_10 |
|
|
|
|
|
X |
11900157 |
0.24 |
0.11 |
0.44 |
0.48 |
hCV2112019 |
TTTAAAGAAGGTCCCAGAGGCATCAGGACTCTGTTTCATC[T/C]CTCTGAGCTCTCTTCACTTTGCCTTACTCTTTGAGTTTCA |
C |
C |
C___8334891_10 |
rs961359 |
|
|
|
|
X |
11947299 |
|
|
0.48 |
0.47 |
hCV8334891 |
CCTGCCTCAAACTGTCCTCTCTACCATCATTCTGCATAGC[C/A]CCTCACTAGGATCCAGGGTCATCAATCCTAGTGCAGGAAA |
T |
T |
C___2112079_10 |
|
|
|
|
|
X |
11954974 |
0.29 |
0.08 |
0.47 |
0.43 |
hCV2112079 |
GGCCCAGGTGGATGATGCTAACATTCTTAGAATCAAGCCA[A/T]GTTAGAGCTTCAAGGAACCTTTTAGCATTGAATTCAGTGG |
A |
A |
C___2112084_10 |
|
|
|
|
|
X |
11970279 |
0.41 |
0.23 |
0.27 |
0.38 |
hCV2112084 |
ATGAATATTAAACAACCTTCAAGGAGTTCAGAATCCAGTA[A/G]TATTCCATTCTAAAAGTGCCAAGGCTGCCTCTATCAGTGA |
A |
A |
C___2112086_10 |
|
|
|
|
|
X |
11972600 |
0.22 |
0.04 |
0.47 |
0.42 |
hCV2112086 |
TGATGACTTCCTAGGCCTCGTTCAAGACTGGCATCCTTGA[C/T]TTTGCTTCCTTCTCCTCCTGTGTTGGATCCATTGCTTCCT |
T |
T |
C__11532654_10 |
|
|
|
|
|
X |
11980874 |
0.06 |
0.32 |
0.13 |
0.22 |
hCV11532654 |
AAGGCAAAAAGCATGCAATTCACCATGTTATGTGAGCTGA[A/G]AACACACGATGTGCAGTTATGTGTGTTCATATAAAATTTA |
G |
G |
C___2112089_1_ |
rs2304604 |
IMS-JST061646 |
|
|
|
X |
11989475 |
0.45 |
0.05 |
0.42 |
0.41 |
hCV2112089 |
CCAATCCCAGTTCTTGGTTTCCTGGGAATGTCTGCCACAC[C/T]CTGCCAGAATAACTACTGTTCAGTTTCATAAGTGTCCAGG |
C |
C |
C___8334782_10 |
rs1438486 |
|
|
|
|
X |
12011929 |
0.49 |
0.18 |
0.07 |
0.08 |
hCV8334782 |
CATTGTACAAGTCTGTCCTTCAATGGAAGGACATTTAACT[T/A]CTGTGACCCCATCCACTAATCCTGATGGTGATCCCCAATC |
A |
A |
C___2112104_10 |
rs893497 |
|
|
|
|
X |
12027397 |
0.47 |
0.15 |
0.12 |
0.1 |
hCV2112104 |
ATTCTCTCAACCTAGTGCAAAACTTGCTCCTTTTTTTACT[A/G]GTTATGCCCTCCAACAATATGACTTCAGACTTTCTCTGAA |
G |
G |
C___2112105_10 |
rs1106641 |
|
|
|
|
X |
12027775 |
0.41 |
0.14 |
0.17 |
0.11 |
hCV2112105 |
CATCAATGCTGTCTTTCCCAACTCTTTCCAGTCTTCCTTC[A/G]TAGACTTCTCTCACCCAAAAGCCACTCACCACTCATCTTG |
A |
A |
C___1144853_10 |
|
|
|
|
|
X |
12047813 |
0.26 |
0.07 |
0.19 |
0.27 |
hCV1144853 |
ATTTTAAGGGATCCAAAACATTATAGAGTTAATTTTTCTT[G/A]TTTGGCAGGTTATAATTACATAATTATAGACGAGAAAAAA |
G |
G |
C__11532664_10 |
|
|
|
|
|
X |
12057575 |
0.23 |
0.37 |
0.26 |
0.47 |
hCV11532664 |
GTGTTGGCAAACTTTTCCCGCAGAGACAACCAGTGTAAAC[A/G]TTTTGACCTATTTCCTTACAGTCTTTTTTTCTATGCCTTA |
A |
A |
C__11532723_10 |
rs4240151 |
|
|
|
|
X |
12083547 |
0.31 |
0.46 |
0.17 |
0.11 |
hCV11532723 |
GAATATGAGCAGACAGGGAGATTGGAGAATAGAAATCAAC[G/A]AAGGGATGGAGAGAAATTGGTGTTGGAAATACAAACTCGG |
A |
A |
C___7625508_10 |
rs1266322 |
|
|
|
|
X |
12111680 |
|
|
0.23 |
0.23 |
hCV7625508 |
CTATTCATGGTTACTTATTTAGCTTTAAATGTTATAATTA[T/C]ATCTCTGCTTCTTGTTCAATCATCTTTAGACAGTCTCCTT |
T |
T |
C___2183791_10 |
rs1638612 |
|
phosphoribosyl
pyrophosphate synthetase 2 |
PRPS2 |
|
X |
12169964 |
0.17 |
0.2 |
0.23 |
0.16 |
hCV2183791 |
GGAGGCCCTGACTCCAGGGATGTGGAGGGACTGAGCTGGA[C/T]TGTCTAGGGAGATCTGTGTTCCTGGGATCAGGCCCTTGAG |
T |
T |
C___7625657_10 |
rs1266347 |
|
phosphoribosyl
pyrophosphate synthetase 2 |
PRPS2 |
Intron |
X |
12189061 |
0.41 |
0.13 |
0.48 |
0.49 |
hCV7625657 |
TAGTACTTCCAGTCTCTATCACCACCTTGCCCCCCAGTCA[A/G]TTTTGGAGGAGTGGGGATGGCTTTTTGGTAGTAAGCTCTA |
G |
G |
C___2183805_1_ |
rs917580 |
IMS-JST037221 |
phosphoribosyl
pyrophosphate synthetase 2 |
PRPS2 |
Intron |
X |
12200360 |
0.26 |
0.44 |
0.49 |
0.41 |
hCV2183805 |
ACAAAATGAAACACTGCACCAAGATTCAGGTACTGTCTAT[G/A]CACCAAAGGCAGCCAAGCAGCCAGGCACCTACTTTAGATC |
G |
A |
C___2183806_10 |
|
|
phosphoribosyl
pyrophosphate synthetase 2 |
PRPS2 |
|
X |
12205237 |
0.42 |
0.46 |
0.14 |
0.06 |
hCV2183806 |
TTTTCATGCATTTTCTAGGTGTTCATCCTAGAGGGGAACA[G/C]ACTGCCCTCCTGCCATTTTAGAAGGGCTACATTGTCTTGG |
G |
G |
C___2259586_10 |
|
|
toll-like
receptor 7 |
TLR7 |
Intron |
X |
12251283 |
0.15 |
0.11 |
0.28 |
0.27 |
hCV2259586 |
GGAACAGCTGAGTGCATGGGGCTGTTGTCCTCTCAGGGCT[A/G]ACATGTTGTAGCCCAGGGGGTGCCCAGGGGCCTTTCTGAC |
A |
A |
C___2183830_10 |
rs3764880 |
|
toll-like
receptor 8 |
TLR8 |
Mis-sense
Mutation|UTR 5 |
X |
12286252 |
|
|
0.16 |
0.17 |
hCV2183830 |
TGCTGCAAGTTACGGAATGAAAAATTAGAACAACAGAAAC[G/A]TGGTAAGCCACTTCTATTTCTTTAGCAAAGCTTTCCAACA |
A |
A |
C___2183836_1_ |
rs3747414 |
|
toll-like
receptor 8 |
TLR8 |
Silent
Mutation |
X |
12300838 |
0.35 |
0.4 |
0.2 |
0.22 |
hCV2183836 |
TGAAGCACCTCGATTTAAGTTCCAATCTGCTAAAAACAAT[A/C]AACAAATCCGCACTTGAAACTAAGACCACCACCAAATTAT |
C |
C |
C__11962582_10 |
rs878774 |
|
family
with sequence similarity 9, member C |
FAM9C |
|
X |
12426089 |
0.42 |
0.22 |
0.36 |
0.48 |
hCV11962582 |
ACTTTGGATGGAGCAATTTATCTCTTTTTCCCAACTGGAG[C/T]ATTTGTGAGATGTCTCCCAGAAAGAAACAACTCAATACAC |
T |
C |
C___2570289_10 |
|
|
|
|
|
X |
12694288 |
0.48 |
0.44 |
0.19 |
0.05 |
hCV2570289 |
TAGAAACCGTGAGATTTCCCTCTGCATATTTCAGAGACAA[T/C]GTCTAACCCAGTGAGCACAGTGGGACTGCAAATACCAGGT |
T |
T |
C____331560_10 |
|
|
EGF-like-domain,
multiple 6 |
EGFL6 |
Intron |
X |
12957148 |
0.4 |
0.45 |
0.2 |
0.21 |
hCV331560 |
CACTTATAGTGTTCTTATGGAGCAAATGTGAGCCCACCTG[A/C]TATAAAATGGGCATAGAAAGCAAACATTCCAATGCTTAAT |
C |
C |
C____331559_10 |
|
|
EGF-like-domain,
multiple 6 |
EGFL6 |
Intron |
X |
12957441 |
0.36 |
0.46 |
0.23 |
0.19 |
hCV331559 |
TCTGACAACAATAGCGAGCAAACAGGCCATTGCAGGCTCT[C/G]TGTTCTTTAAAGTTAACACGATCGTGACTAATTCATGCAC |
G |
G |
C____323174_1_ |
rs3747415 |
|
EGF-like-domain,
multiple 6 |
EGFL6 |
Intron |
X |
12968823 |
0.37 |
0.28 |
0.23 |
0.2 |
hCV323174 |
GGATAGTTGCTGTGCGTATACAGAGCAGATCTGAAAAGTG[G/A]CACTCTACAAGGTTCAAAAACATATACTTTGGACATCTTC |
A |
A |
C__16213089_10 |
rs2370235 |
|
EGF-like-domain,
multiple 6 |
EGFL6 |
Intron |
X |
12987578 |
0.08 |
0.44 |
0.12 |
0.19 |
hCV16213089 |
TTGATTTTCTGGTATTGTTATTTAGTTCTAAGTTAGAGGA[A/G]AAAGTTAAGAGAAAAACCTAAACATCTTACAGATTTCAAT |
A |
A |
C__25638176_10 |
|
|
EGF-like-domain,
multiple 6 |
EGFL6 |
Mis-sense
Mutation |
X |
13012581 |
0 |
0.21 |
0.14 |
0.08 |
hCV25638176 |
AGCAGAACGTGGCAAGGGCAAAACCGGCGAAATCGCAGTG[G/A]ATGGCGTCTTGCTTGTTTCAGGCTTATGTCCAGATAGCCT |
A |
A |
C_____64938_10 |
rs3761625 |
|
hypothetical
protein MGC17403 |
MGC17403 |
|
X |
13044003 |
0.39 |
0.42 |
0.4 |
0.27 |
hCV64938 |
TCTCATTTATAGGTCTCCCTTCAACCACAAAAGTCACCCT[A/G]GAACTCATCCCGCAGTTAGAATTTTGTTTGGAGCCCTCTT |
G |
G |
C__11897360_10 |
|
|
hypothetical
protein MGC17403 |
MGC17403 |
|
X |
13049269 |
0.37 |
0.13 |
0.24 |
0.19 |
hCV11897360 |
AGCAGATGGGCTTTTGTCCCCCAGCTTTGTGAAATCTCAC[A/G]AATTGCTCAGCAGAAAGTTTCCAAATGACTTAGTGGATTT |
G |
G |
C__11897351_10 |
|
|
RAB9A,
member RAS oncogene family |
RAB9A |
Intron |
X |
13069604 |
0.35 |
0.34 |
0.38 |
0.25 |
hCV11897351 |
AGGAATAACTTTTCTGCTAGTTTCCAAATCGGCACGTGAC[C/T]ACAATCTTTTCATAGGATTTTAGCGTCCTGATAAAAATCA |
C |
C |
C___2181673_10 |
|
|
RAB9A,
member RAS oncogene family|spondyloepiphyseal dysplasia, late |
RAB9A|SEDL |
|
X |
13090918 |
0.26 |
0.38 |
0.46 |
0.25 |
hCV2181673 |
TGTCAACCAGGAAGTGTTGAAGTGACTGAAAAATTAAAGC[G/A]CATGGGTAATAGCATGGGCAGAGCAGAGACTGAGACGATC |
A |
A |
C__16173381_10 |
rs2238910 |
|
oral-facial-digital
syndrome 1 |
OFD1 |
Intron |
X |
13127589 |
|
|
0.24 |
0.23 |
hCV16173381 |
AACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCC[C/G]TAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAG |
G |
G |
C___2181692_10 |
|
|
oral-facial-digital
syndrome 1 |
OFD1 |
Intron |
X |
13135350 |
0.18 |
0.19 |
0.45 |
0.47 |
hCV2181692 |
CTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTA[A/C]AACATATTTTGTATATGAAATTTATTTTAGCAACTGTGAC |
A |
C |
C___2181695_1_ |
rs2283707 |
IMS-JST033299 |
glycoprotein
M6B|oral-facial-digital syndrome 1 |
GPM6B|OFD1 |
Intron |
X |
13145360 |
0.19 |
0.5 |
0.48 |
0.45 |
hCV2181695 |
GCCAAGATGCAGAGGGAACAGACAAGTAATTAAAGTATGG[A/G]CCTTGCCTGGAAGGAATAGAAGTGGAAGAAACAAGTACAT |
G |
A |
C__16163654_10 |
rs2074096 |
IMS-JST000815 |
glycoprotein
M6B |
GPM6B |
Intron |
X |
13166401 |
0.2 |
0.13 |
0.32 |
0.39 |
hCV16163654 |
GGGGCAGAGCCAGGTGACGTTTTCAGTTTGGAGACATTTA[T/C]GTTTCAGTAAAGGCAGCACTGGCCTCAGGATAATGTCAGT |
T |
T |
C__16163653_10 |
rs2074097 |
IMS-JST000816 |
glycoprotein
M6B |
GPM6B |
Intron |
X |
13176676 |
0.4 |
0.24 |
0.07 |
0.1 |
hCV16163653 |
CAGCAATCAGTTTCCTTGACCATCTGGGCGACAGTGTCTC[C/T]ACTTTCCTGGATTCCATTCCATTCAATGAGTGTCTGTCCA |
C |
C |
C___2181708_10 |
rs2106706 |
|
glycoprotein
M6B |
GPM6B |
Intron |
X |
13195383 |
|
|
0.31 |
0.45 |
hCV2181708 |
GCAATTTCATATGGTTCAGCCTGTATCTTTATAAATAAAA[C/T]GAAGTTTTGTCCCCGTACTGGCGAATTACTCTTTAGTGAC |
T |
T |
C___2181712_10 |
|
|
glycoprotein
M6B |
GPM6B |
|
X |
13204059 |
0.39 |
0.47 |
0.28 |
0.28 |
hCV2181712 |
ATATGCAGCCAACTGCTGGAGGCAGGAGGGAAACAGACAA[T/A]GTGTGCTACGATGATGGTGACACAATCAGAGCTGTTTTAG |
T |
T |
C____347458_10 |
|
|
glycoprotein
M6B |
GPM6B |
|
X |
13212211 |
0.17 |
0.29 |
0.32 |
0.2 |
hCV347458 |
CACATTTTAAAATATATTCACATTATTCAAATGCAATCTT[T/C]TGTTCAATTGTCTCATCTGTTTACCTTCTAGGATGGAAAT |
C |
C |
C___7557370_10 |
|
|
glycoprotein
M6B |
GPM6B |
|
X |
13216644 |
0.21 |
0.47 |
0.49 |
0.38 |
hCV7557370 |
ATGTTTAATGCATAAAAATTTAACTACATATCCAGTTATC[T/C]GGCAAGAGAGCCAACTGAATAAGCTGAAGACTTGACAAAA |
C |
C |
C___2181720_10 |
|
|
glycoprotein
M6B |
GPM6B |
|
X |
13226403 |
0.48 |
0.37 |
0.07 |
0.13 |
hCV2181720 |
TTCTTCTTTGCCTAATCATCTTTCCTATTACTGACACATG[C/T]TTTAGGCAAACATCATTACTGTCATGGCTGCCAATTTACA |
C |
C |
C___2181733_10 |
|
|
glycoprotein
M6B |
GPM6B |
|
X |
13250141 |
0.29 |
0.41 |
0.22 |
0.34 |
hCV2181733 |
AGCAATAACAACCATTCCAACAAGGTATGGACTGAGGGTT[G/A]TATGAACACAGAAAACAGAGCCCCTAACACTGCTTCAGGG |
A |
A |
C___2181737_10 |
|
|
glycoprotein
M6B |
GPM6B |
|
X |
13258776 |
0.15 |
0.33 |
0.26 |
0.34 |
hCV2181737 |
CCCCCAACAAGTAGATATACCTTTTATGATGTATCTAAAC[C/T]AAAAATCTGTCTGCTTTCCGTAAGCAGGTCATAACTTACG |
T |
T |
C__11915807_10 |
rs1859004 |
|
glycoprotein
M6B |
GPM6B |
|
X |
13267719 |
|
|
0.17 |
0.33 |
hCV11915807 |
TATGGAATGTTATAAACACCAACGGAAAACGTCATGGTTT[A/G]GGAACATTTCTTTATGCAGCCAGGGCTTATTATAAAGCCC |
G |
G |
C___2181745_10 |
|
|
glycoprotein
M6B |
GPM6B |
|
X |
13283556 |
0.11 |
0.01 |
0.5 |
0.34 |
hCV2181745 |
GTTCTCCCCATTATGAAGACACCAGTTAGACAGGGCTTCT[G/T]AGACTCCCTGGGCAGTCAGCTGAACCCTCCAGATCTCCTT |
G |
G |
C___2615489_10 |
|
|
glycoprotein
M6B |
GPM6B |
|
X |
13295459 |
0.27 |
0.23 |
0.23 |
0.29 |
hCV2615489 |
TACACATTCTGATTTCTGTGAAAATCAAGTTGATTCATAA[A/G]AAGCATCCTTTTGTCCCAAATTCAAAACTCTCTCAAAGCT |
A |
A |
C___7557380_10 |
rs1015453 |
|
|
|
|
X |
13338119 |
0.29 |
0.48 |
0.07 |
0.11 |
hCV7557380 |
TTCCTTCTGCAGCCTCCAGGGAAGAATTTTTTTACTTGCC[T/C]TTTCAGTTTCTTGTTATCACCTGTATTCCTTGACTTGTGG |
T |
T |
C___2615461_10 |
|
|
hypothetical
protein FLJ20514 |
FLJ20514 |
Intron |
X |
13396920 |
0.3 |
0.36 |
0.07 |
0.13 |
hCV2615461 |
CATAAAATTCCCTTTTATGATGGTTTGCTATCTAGATCAC[A/G]GTAAAACAAATAAGTAATACAGTTTTTTCAGACAGATGAC |
G |
G |
C___2615456_10 |
|
|
hypothetical
protein FLJ20514 |
FLJ20514 |
Intron |
X |
13406257 |
|
|
0.05 |
0.02 |
hCV2615456 |
ATATATTCTTTTAATTACATATTTATGTTCTTATAAATAT[G/A]GAATATAGGACAAATCGTAGCAACCAAAAAAGTAAAATAA |
G |
G |
C__15862373_10 |
rs2074007 |
IMS-JST000690 |
|
|
|
X |
13619218 |
0.08 |
0.46 |
0.24 |
0.16 |
hCV15862373 |
TTTCCCATTGTCACAATATAAGAATCTGTTTGTCTTCTAG[A/G]GGTGATTACTTACAACAGTGATTTTATTCAGTTGTATCTC |
T |
T |
C__16163566_10 |
rs2074006 |
IMS-JST000689 |
|
|
|
X |
13619366 |
0.11 |
0.33 |
0.23 |
0.15 |
hCV16163566 |
AAATGGTTTAGAATGCTGCTCTCTTCGAGGGCTTAGCTGA[C/T]CTTGGCATCCCGTGAACCCTGAGCAAAATTTAGTCACCTT |
G |
G |
C__15770654_10 |
rs2283708 |
IMS-JST033300 |
glycine
receptor, alpha 2 |
GLRA2 |
Intron |
X |
13950788 |
0.44 |
0.29 |
0.23 |
0.28 |
hCV15770654 |
CACCAGTGAATGAATGTGCTCTGTAAACTACAGAAGGAAA[C/T]ATTTTACACTAGTTAACCCCATCTAATTGATTTATCAGCA |
#N/A |
#N/A |
C____344458_1_ |
rs2074207 |
IMS-JST000957 |
glycine
receptor, alpha 2 |
GLRA2 |
Intron |
X |
13960404 |
0.33 |
0.22 |
0.26 |
0.27 |
hCV344458 |
GATTTTGCTACAGAAAAAGGTAAACAATGAACACAGAAAT[C/T]AGTCTGTCATGGCAGATTGTCAAATAAAACTGATTTATTT |
A |
A |
C______1921_10 |
rs726293 |
|
glycine
receptor, alpha 2 |
GLRA2 |
Intron |
X |
13964602 |
0.36 |
0.21 |
0.27 |
0.27 |
hCV1921 |
GCCTGCACAGGACAATCCCCACCTAATCCAAAACAGTTGT[C/T]AGGGCATTTCAGGGCCTGTAATGTGCTATGCTTGGGAACC |
A |
A |
C__15763046_10 |
rs2238914 |
IMS-JST019907 |
glycine
receptor, alpha 2 |
GLRA2 |
Intron |
X |
13973991 |
0.28 |
0.31 |
0.23 |
0.1 |
hCV15763046 |
TTACATTTCAAAGTCATTTCACATCTAGTATTTATATATC[A/C]AAACATTGGTGAAGGTAAAATGTAGCCTGCACATTGAAAT |
#N/A |
#N/A |
C__11174640_10 |
|
|
glycine
receptor, alpha 2 |
GLRA2 |
Intron |
X |
14022347 |
0.27 |
0.17 |
0.08 |
0.06 |
hCV11174640 |
TAATCTTGATGGGAAAAGGGATTTTTAGAAATCTGCCTAC[G/C]ATACCTGATCAATAAGAATATGCAAAAGGACTCAAAGTCT |
C |
C |
C____342508_10 |
|
|
glycine
receptor, alpha 2 |
GLRA2 |
Intron |
X |
14082087 |
0.03 |
0.18 |
0.16 |
0.03 |
hCV342508 |
CTGTGTTACTGCAAAGAATTCAAACCAGAAAGCCACTTTT[C/A]TATTCACACTTAAGACAAGCTTTGGTAAGTTTATAATATA |
G |
G |
C___2544767_1_ |
rs2074179 |
|
glycine
receptor, alpha 2 |
GLRA2 |
Intron |
X |
14082617 |
|
|
0.17 |
0.05 |
hCV2544767 |
TTTTTAGCCATCTAGACCCTGACTGCTTTGCATAGCCCAC[A/G]AAACCATGCCTAGCATCTGCTGGTCCTTGCACTTATAAGG |
T |
T |
C___2608895_10 |
rs2952097 |
|
|
|
|
X |
14210336 |
0.28 |
0.27 |
0.17 |
0.05 |
hCV2608895 |
GCAACACACTAGTGGAAAGGTATGGATGGGCATCCATCAG[T/C]GGATAAATATTTAGGCACCGCACATGGGGAATCTTGAAGG |
G |
G |
C__16158085_10 |
rs2905220 |
|
hypothetical
protein FLJ34064 |
FLJ34064 |
Intron |
X |
14225429 |
0.27 |
0.28 |
0.16 |
0.05 |
hCV16158085 |
TACCTGTTTTACTTGATAAACTTTGACAATGCTGGAATGT[A/G]CTACAGTAAGCCTGTATATATTTGTAAATTATTATAAATG |
T |
T |
C___2538164_10 |
|
|
hypothetical
protein FLJ34064|motile sperm domain containing 2|hypothetical protein
MGC26706 |
FLJ34064|MOSPD2|MGC26706 |
Intron |
X |
14245374 |
0.29 |
0.49 |
0.16 |
0.05 |
hCV2538164 |
AGTCACTTTTAATAGAGCATCTAAAGCTTTAAATATATGC[C/T]GTTGACACATTCAGTTATCTTTTTTGATATGGTTATTTGA |
A |
A |
C__15848607_10 |
rs2188383 |
|
hypothetical
protein FLJ34064|motile sperm domain containing 2|hypothetical protein
MGC26706 |
FLJ34064|MOSPD2|MGC26706 |
Intron |
X |
14248573 |
0.3 |
0.27 |
0.18 |
0.05 |
hCV15848607 |
GTTTATTTTCTCTAAACCATAGTTTCATAAGTACAAGCCA[G/C]ACCTTTGATTTACCTACCCTATCTTCTTTACTGATGAAGC |
G |
G |
C__15877498_10 |
rs2269763 |
IMS-JST024057 |
motile
sperm domain containing 2|hypothetical protein MGC26706 |
MOSPD2|MGC26706 |
Intron |
X |
14273455 |
0.24 |
0.19 |
0.22 |
0.05 |
hCV15877498 |
AACTCAACAATGTTTGTTTTCTTACACAGAATTGCTATTT[T/C]CTGGTGAAAAATAGCAGAGATATGGTAAAAGGGGATGGGG |
T |
T |
C__12120402_10 |
rs1858882 |
|
motile
sperm domain containing 2|hypothetical protein MGC26706 |
MOSPD2|MGC26706 |
Intron |
X |
14275244 |
0.29 |
0.3 |
0.19 |
0.05 |
hCV12120402 |
TCATTATCTTCTTTCTAATCTGACTGTGATATTAAAACTC[A/G]TCTTAGTATTTTTATGGAGAATTTTTTTGACAGTCGCTAA |
A |
A |
C__11878704_10 |
rs4830914 |
|
motile
sperm domain containing 2|hypothetical protein MGC26706 |
MOSPD2|MGC26706 |
Intron |
X |
14282169 |
|
|
0.09 |
0.03 |
hCV11878704 |
TTCAGTGGCTTCAGCACTACTTTGACATGCCACATCCAAA[A/G]ACTCCATTTATCCACTTAACTGTTTTCTTTTGTACCTCCC |
G |
G |
C___1866242_10 |
rs2317329 |
|
ankyrin
repeat and SOCS box-containing 9 |
ASB9 |
|
X |
14613917 |
|
|
0.16 |
0.21 |
hCV1866242 |
AGGTCCAGAATATAACTGATAACAGCCACATTTGAATTAC[G/A]TTCCTACAAACACCACAGTTAATGTCAGTTCTGGAAAATG |
G |
G |
C___1866248_1_ |
rs731197 |
IMS-JST043384 |
ankyrin
repeat and SOCS box-containing 9 |
ASB9 |
Intron |
X |
14628674 |
0.19 |
0.32 |
0.32 |
0.21 |
hCV1866248 |
TTTAATAATGTGGGGAAAATCCCACCTGATAATGTTATTG[G/A]ATGTACAGCATGAGGAATATAGCATAGAAAGTTAAAAATT |
G |
G |
C___1866255_10 |
|
|
ankyrin
repeat and SOCS box-containing 9 |
ASB9 |
Intron |
X |
14642898 |
0.42 |
0.3 |
0.43 |
0.34 |
hCV1866255 |
GGATTCAGTGGCATGAACCAACCTGCCAGAACCTGGAAAG[G/T]ATCTGGGTGCTGTATTCACAATTATTGTGGACCTTGGTTT |
T |
T |
C___2282528_10 |
rs234495 |
|
Pirin |
PIR |
Intron |
X |
14800441 |
0.23 |
0.45 |
0.35 |
0.48 |
hCV2282528 |
CAAAAGGAGCTATATAAGTAAACTGGGAAGGATTTCCATG[A/G]GTATTTTTCAGTCAAATAAATAGGACGTAAAAGAGTAGTT |
A |
G |
C__12120422_10 |
rs1996174 |
|
Pirin |
PIR |
Intron |
X |
14828748 |
0.27 |
0.42 |
0.32 |
0.49 |
hCV12120422 |
GGGACCTGGGTTGGACCTTGGTGCATAGAAGCAAGGAGAT[A/G]AAGATGGGGAAATCCTCAACTCCTTTTTTTCTACAGTATT |
A |
G |
C___8816936_10 |
rs1473906 |
|
BMX
non-receptor tyrosine kinase|Pirin |
BMX|PIR |
Intron |
X |
14863034 |
0.37 |
0.28 |
0.38 |
0.48 |
hCV8816936 |
TTTTCTCTCACTCTAACTCTTCAAATCACTTCAAACCATC[A/T]GAAGACACCTCTTTCCTTTTCTCCTCTCCTCTCACCTTCT |
T |
T |
C___8877953_10 |
rs879922 |
|
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 2 |
ACE2 |
Intron |
X |
14952233 |
0.35 |
0.39 |
0.02 |
0.1 |
hCV8877953 |
CAAATAAACTGAGCTCCAGCAAATTCAAGGACTGGGGTTA[G/C]TAGGTGAAGAACATATGTTTTTGGACTTCAAGTTAAAAAT |
C |
C |
C___2551626_1_ |
rs2285666 |
IMS-JST035934 |
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 2 |
ACE2 |
Intron |
X |
14971774 |
0.3 |
0.19 |
0.3 |
0.48 |
hCV2551626 |
AGAAAAGTAAATTTCATAATCACTACTAAAAATTAGTAGC[T/C]TACCTGGTTCAAGTAATAAGCATTCTTGTGGATTATCTGG |
C |
T |
C___2551638_10 |
|
|
kidney-specific
membrane protein |
NX17 |
Intron |
X |
15010391 |
0.23 |
0.36 |
0.42 |
0.42 |
hCV2551638 |
GTTGGGGTGGACATAGATTTTAATGTGATGAGAGGATCCT[T/C]CCAGGTGAAATTACCCACCAGAGGATTAGAACACTTTGGT |
T |
C |
C___2551639_10 |
|
|
kidney-specific
membrane protein |
NX17 |
Intron |
X |
15011712 |
|
|
0.39 |
0.43 |
hCV2551639 |
ACCTCATAAATATAGAGAGAAGAGGGGCAAAAGAGGGGAG[G/A]AAAGAAGTATCAGGTGTGGCCCTCAGAGCTAGGGGATGTT |
G |
A |
C___2551640_10 |
rs990432 |
|
kidney-specific
membrane protein |
NX17 |
Intron |
X |
15019537 |
0.23 |
0.24 |
0.43 |
0.43 |
hCV2551640 |
AGCTGCCAGAGGGATACCCATGTATCCACTGCTGCCCCCA[C/T]TGTTGTGAATGTCCAGAAGTCCTGAGCTTTGAGCTCTGTC |
T |
C |
C__11610216_10 |
rs1877924 |
|
kidney-specific
membrane protein |
NX17 |
Intron |
X |
15032776 |
0.23 |
0.37 |
0.42 |
0.42 |
hCV11610216 |
TTCCTCCCCTGTTGCAAATTCTTGTGGTTTGGGTTGGGTG[T/G]TGAAGAGTGCTTGCCCGGCAGGCCTCTCTACTTCAAGATG |
T |
G |
C___2551645_10 |
|
|
kidney-specific
membrane protein |
NX17 |
Intron |
X |
15037843 |
0.45 |
0.34 |
0.04 |
0.13 |
hCV2551645 |
AATGCTCCTCAGCTGCAAACAGCAAGTACAACCTTAGGGT[A/G]TATGCACCTGTGCATGCAGGGCCTGGTTCTGTACTTAGCT |
G |
G |
C___1706076_10 |
|
|
kidney-specific
membrane protein |
NX17 |
|
X |
15047725 |
0.45 |
0.41 |
0.04 |
0.13 |
hCV1706076 |
AATGGATGACCAATGCTAATATATTTTCATAGTTAGAATG[A/C]GCCTTCCTTAGCCTTGGATCTCTTTATATGTTCTTGTAGG |
C |
C |
C__11878948_10 |
|
|
carbonic
anhydrase VB, mitochondrial |
CA5B |
Intron |
X |
15127141 |
0.21 |
0.27 |
0.44 |
0.5 |
hCV11878948 |
TTATACAAGTATAGTGAGAACACTATAATAAAACCACCCA[C/T]GTACCCAATATTCCATTTCAACAATTGTCTGTTCATGGCC |
G |
A |
C___2558623_10 |
|
|
U2(RNU2)
small nuclear RNA auxiliary factor 1-like 2|U2 small nuclear
ribonucleoprotein auxiliary factor, small subunit 2 |
U2AF1L2|U2AF1RS2 |
Intron |
X |
15182926 |
0.41 |
0.22 |
0.28 |
0.41 |
hCV2558623 |
CTGCTTTGAAACTTGCTACCCATTTTATTGTCACCTAAAC[G/A]TCACTGTGATCAGTCTAGAGGGAAAGTCATAGTGTCCTTT |
A |
A |
C__25637745_10 |
|
|
U2(RNU2)
small nuclear RNA auxiliary factor 1-like 2|U2 small nuclear
ribonucleoprotein auxiliary factor, small subunit 2 |
U2AF1L2|U2AF1RS2 |
Intron |
X |
15187982 |
0.43 |
0.45 |
0.29 |
0.39 |
hCV25637745 |
GTTTATGATGCTTTGATTTATACAACAACAACAAACTTTA[T/C]TGATGAACAAATACAAATGGTATTCATGACCCCTGTGGAC |
T |
T |
C___2558630_10 |
rs1557808 |
|
U2(RNU2)
small nuclear RNA auxiliary factor 1-like 2|U2 small nuclear
ribonucleoprotein auxiliary factor, small subunit 2 |
U2AF1L2|U2AF1RS2 |
Intron |
X |
15190861 |
0.4 |
0.43 |
0.3 |
0.41 |
hCV2558630 |
GACAACTGAGACTCCATGTAAGTTCACATTTGCATGGGTA[C/G]TTGAACCAAATTGCATTTAAGGTTTTCCAGCTGCAGGATC |
C |
C |
C__11174857_10 |
|
|
adaptor-related
protein complex 1, sigma 2 subunit|U2(RNU2) small nuclear RNA auxiliary
factor 1-like 2|U2 small nuclear ribonucleoprotein auxiliary factor, small
subunit 2 |
AP1S2|U2AF1L2|U2AF1RS2 |
Intron |
X |
15208037 |
0.4 |
0.41 |
0.29 |
0.41 |
hCV11174857 |
AATTGAAATCGAAATGATTTAGCATTTATTATTAAACGCA[A/G]GTACTATACACCAATTCTACTTATAAAGCTCATATGATGA |
A |
A |
C___2558648_10 |
rs2795104 |
|
adaptor-related
protein complex 1, sigma 2 subunit |
AP1S2 |
Intron |
X |
15231551 |
|
|
0.06 |
0.07 |
hCV2558648 |
TTTTCGGGGAAAAAGAATTAGACTCTATCTGTACTTGTCT[A/C]AATTCAGAGAATTACTCACACAATTTAAAATACTGACCCT |
C |
C |
C____347700_10 |
rs798186 |
|
adaptor-related
protein complex 1, sigma 2 subunit |
AP1S2 |
|
X |
15268899 |
0.46 |
0.25 |
0.38 |
0.22 |
hCV347700 |
AAAATGAAAACAAGAAAACCACTAACTGGATGAAATACAA[T/C]TGGGCAAAGGCTTCATCTGGAATGAATTTAGGTTGGCATG |
C |
C |
C___2549187_10 |
|
|
gastrin-releasing
peptide receptor |
GRPR |
|
X |
15501882 |
0.42 |
0.11 |
0.16 |
0.08 |
hCV2549187 |
CCTGCTGGCAGAGAGGGGCGCTGAGCCTTTCATATTTACA[T/C]AGAAAGCATGGCAGCAGCCTCAGTGTTGGAACCTGCCACT |
C |
C |
C__25473281_10 |
|
|
gastrin-releasing
peptide receptor |
GRPR |
Silent
Mutation |
X |
15529893 |
0.42 |
0.34 |
0.1 |
0.08 |
hCV25473281 |
GATACAAAGCCATTGTCCGGCCAATGGATATCCAGGCCTC[C/T]CATGCCCTGATGAAGATCTGCCTCAAAGCCGCCTTTATCT |
C |
C |
C____450447_10 |
|
|
|
|
|
X |
15546899 |
0.43 |
0.07 |
0.18 |
0.11 |
hCV450447 |
AAGCCCCAGCTGTGCATAGTGGAGCCCCAGAAACTGACTC[A/G]AATCAAGGTGAGGACCGAGAGTGACATAAGGGAATGGTTA |
A |
A |
C___2554469_10 |
rs2189270 |
|
|
|
|
X |
15571399 |
0.47 |
0.47 |
0.32 |
0.36 |
hCV2554469 |
CACACAATGGCACAGACTAACAATAAGCAACAAAGTGCGT[A/G]TATAATCTGTGTCACAGTAGTGATTATAACTAAGTGGTGA |
G |
G |
C___2554474_10 |
rs1229076 |
|
|
|
|
X |
15582799 |
0.45 |
0.49 |
0.16 |
0.09 |
hCV2554474 |
AATGCCAGTTTCTGTGATCTGGAAGCACAGACATGAATTA[T/C]CTACAGCTGCCCCTTAAACATTTCATCAGTAAATGCACAG |
T |
T |
C___8817140_10 |
rs1229078 |
|
|
|
|
X |
15583330 |
0.47 |
0.46 |
0.16 |
0.11 |
hCV8817140 |
TGTTACAAACCTGTAACACATGACCAAAGTAACCATTGAG[A/T]CTTTAGATTTCTATAACTTTCCTAAATTTAAACAATCTTA |
A |
A |
C___8730978_1_ |
rs1048392 |
IMS-JST036024 |
CTP
synthase II |
CTPS2 |
|
X |
15989182 |
0 |
0.21 |
0.22 |
0.17 |
hCV8730978 |
CTGCAAGTAACAGCCCCAGATACGGAGGGGAAGGCTTCAT[T/C]GGCCTAGAAGAAAACTCAGGATGGAACTGGACACCAACAA |
T |
T |
C__11878928_10 |
|
|
CTP
synthase II |
CTPS2 |
|
X |
16061651 |
0 |
0.3 |
0.09 |
0.05 |
hCV11878928 |
GGAAAAAATGTCCTATTATTTTCCTGTTAGGCAATTACGA[T/C]GTACTTAAACGAGCATGACAAGCATGCTCATTCATCTGAA |
T |
T |
C____126633_10 |
|
|
CTP
synthase II |
CTPS2 |
|
X |
16070104 |
0.35 |
0.17 |
0.47 |
0.49 |
hCV126633 |
TCTCCATCAGACTATTTTCCAAGATGCCAAAATTCAATTT[C/G]ATCATTTTTAGACTTCAGAGAACCCAGAGTTATAATCTGA |
G |
G |
C____105183_10 |
|
|
CTP
synthase II |
CTPS2 |
|
X |
16083356 |
0.36 |
0.1 |
0.48 |
0.47 |
hCV105183 |
TGCCTAGGTCTGTTGCCCTGGGTTTCCAAAGACCTCAACT[C/T]TATCATGCAACAAACTTCATCATGATAAACCAAATTTCTC |
T |
C |
C_____80304_10 |
|
|
synapse
associated protein 1, SAP47 homolog (Drosophila) |
SYAP1 |
Intron |
X |
16104306 |
0.26 |
0.36 |
0.46 |
0.37 |
hCV80304 |
ACGAGGACTCTCCCCATAGCTCCCTTTTTATTAAGAAAGA[G/A]AATGTTTCTGGATGCCGACTTGCAGGTGTCCCCTTAAATT |
A |
A |
C__11879071_20 |
|
|
synapse
associated protein 1, SAP47 homolog (Drosophila) |
SYAP1 |
Intron |
X |
16117555 |
|
|
0.06 |
0.08 |
hCV11879071 |
TGAGAGTAGATGAGCTCCTCTATGGAAAGTGTGTCAAGCA[T/C]GAAGGGAGATGAGCAGAAGCTCCACAGTGTTTAGGGAGGG |
C |
C |
C__25754903_10 |
rs4830563 |
|
synapse
associated protein 1, SAP47 homolog (Drosophila) |
SYAP1 |
Intron |
X |
16123584 |
0.27 |
0.48 |
0.43 |
0.47 |
hCV25754903 |
CAAAACCAAGGTCTGACTTGGCAGGAAATACAGGGTAGAG[A/G]TGAAATGTGCTTTTCTATCCCAGTTACAAGGTAGAACACA |
G |
G |
C__12122013_10 |
rs1871514 |
|
|
|
|
X |
16295884 |
0.3 |
0.22 |
0.17 |
0.17 |
hCV12122013 |
GAGAGACAGAGCTCCTGAATTTCAAATCGTACAATTCCCA[C/T]CACAATAAGGGATTGATTTAGGCTCTTTCTAATCACGAAT |
G |
G |
C___1866195_10 |
|
|
RALBP1
associated Eps domain containing 2 |
REPS2 |
|
X |
16375392 |
0.39 |
0.49 |
0.17 |
0.17 |
hCV1866195 |
CTAGGTCCTTATTGTTCCCAAGATCCTCTATCCCAAATAC[G/A]GTTTACTGTCCACAGTTATGAACAGGGTGGAAGGGCCCTT |
C |
C |
C___7420628_10 |
|
|
RALBP1
associated Eps domain containing 2 |
REPS2 |
Intron |
X |
16448321 |
0.4 |
0.42 |
0.21 |
0.18 |
hCV7420628 |
AATCTGATCGTAGCAATTAGGAAATGACAGGAAGCTGAAC[A/G]AATTGAGAACATGTTGTGTTTGCGGATGTGATCCCAGACA |
A |
A |
C___2910102_10 |
rs1426801 |
|
RALBP1
associated Eps domain containing 2 |
REPS2 |
Intron |
X |
16454405 |
0.31 |
0.29 |
0.21 |
0.19 |
hCV2910102 |
GGTAGAACTGCAGTGTAAGATAGGATAACGAGGATACCAT[G/A]TGTGTGTTTTCTGTTTTGCTTTGGCTGTTAGTGACATTTT |
G |
G |
C___7420640_10 |
rs11864 |
|
RALBP1
associated Eps domain containing 2 |
REPS2 |
|
X |
16532726 |
0.39 |
0.14 |
0.21 |
0.17 |
hCV7420640 |
TTTCCAAAGTTGGAGATCTTTAACTATGTTCTTCACAGAC[T/C]TTTCAACAAGTGTGAAAAAGAGGCAGTAAGGTTAGCTTGA |
G |
G |
C___7420650_10 |
|
|
|
|
|
X |
16544761 |
0.2 |
0.35 |
0.21 |
0.16 |
hCV7420650 |
CAAAAGTCATTGCCAAAGGCTTCTCTCACAGTCTGACTGA[C/T]TCAATAGATCCATGGAGTGAATCAGGGCTGCTTAGTAAGT |
C |
C |
C__15872647_10 |
rs2267625 |
IMS-JST021112 |
sex
comb on midleg-like 2 (Drosophila) |
SCML2 |
Intron |
X |
17635375 |
0.23 |
0.38 |
0.31 |
0.37 |
hCV15872647 |
AGAATCCCTGGACTTAAAAAGATAGTCTGTGATGGTACTC[G/T]GTATTTCCAGAATCAGCAGCAGCTGGCCAGAAAACCATGC |
G |
G |
C__25472142_10 |
rs3795187 |
|
sex
comb on midleg-like 2 (Drosophila) |
SCML2 |
Intron |
X |
17645431 |
0.23 |
0.37 |
0.3 |
0.37 |
hCV25472142 |
TTAAGGCATTGTCTCCTCATGACTCAAAATAAGTTTTACT[T/C]GACCTTTAAAACCATTTCCAAAGGTTATTCACTGAAAACC |
T |
T |
C__25472149_10 |
rs3213544 |
|
sex
comb on midleg-like 2 (Drosophila) |
SCML2 |
Mis-sense
Mutation |
X |
17703460 |
0.22 |
0.2 |
0.3 |
0.37 |
hCV25472149 |
GTAAGTCTCCTTCCTTTTCACATGTCCCAACAGGTTGTAT[A/G]TCTGGGGAATCGACAAGCCTCCAAAAATCATTTCTGTTGT |
A |
A |
C__11691807_10 |
rs2051604 |
|
sex
comb on midleg-like 2 (Drosophila) |
SCML2 |
Intron |
X |
17722842 |
0.23 |
0.36 |
0.31 |
0.37 |
hCV11691807 |
TTCAGTAAGGGTAAACATTTTGACAAGGACAGGAACTGAA[C/T]AAATCTGACAGCAAGAAATATCCCAGGTTCCAGGTTCAGT |
C |
C |
C___9742522_10 |
|
|
sex
comb on midleg-like 2 (Drosophila) |
SCML2 |
Intron |
X |
17726103 |
0.45 |
0.19 |
0.19 |
0.21 |
hCV9742522 |
CGTTTGCTGGTGTTTTAAAGAAAATGTTGGAATAAGTGAC[G/A]GAAGTTATTATACATACACAATTTACCAGAGATTAATTAA |
A |
A |
C___2482990_10 |
|
|
sex
comb on midleg-like 2 (Drosophila) |
SCML2 |
|
X |
17739548 |
|
|
0.16 |
0.19 |
hCV2482990 |
TCCCTGGAAGCTACCCACACCTCTGTAAATAACCCAGTAA[A/G]TTCAAAATCACTTATAACTACATCTTCTGTTTCTGCTGGG |
G |
G |
C__15959463_10 |
rs2283722 |
|
cyclin-dependent
kinase-like 5 |
CDKL5 |
Intron |
X |
17821706 |
0 |
0.06 |
0.16 |
0.24 |
hCV15959463 |
CTGAGGGTAGTGTCCAGCCTCTCAGGCTTAGCTGCTGCCC[A/G]CCCCCAGGTTTGCATCACAATGAGCCTACCTCAGGACTCT |
G |
G |
C___2783272_10 |
|
|
cyclin-dependent
kinase-like 5 |
CDKL5 |
Intron |
X |
17851830 |
0.26 |
0.03 |
0.49 |
0.45 |
hCV2783272 |
TAAAATGCTGTACTTTGGATAGCTTTTGTTCTTTTACTTA[T/A]TAACACCATGGCCTTTCCCTAGTGTATTTTACCATACAGT |
T |
A |
C__15959474_10 |
rs2283720 |
|
cyclin-dependent
kinase-like 5 |
CDKL5 |
Intron |
X |
17970967 |
|
|
0.18 |
0.26 |
hCV15959474 |
CCAGTCTGTGGCATCAGCATTGAAACTCAACTGTATTTCT[T/G]TTCTCTCCATCTCTCATGCTTCTTTTACCCTTTTACCTTT |
G |
G |
C____342496_1_ |
rs3752484 |
|
cyclin-dependent
kinase-like 5 |
CDKL5 |
Intron |
X |
17999630 |
0.27 |
0.32 |
0.32 |
0.31 |
hCV342496 |
CAATCAAAGTTGATTGTTTTCTTATTGAGACTTGACATTT[T/A]TGCACTGTATTATGTCTCTTTCTGAAATTCTTTACAACTA |
T |
T |
C___2499227_10 |
|
|
cyclin-dependent
kinase-like 5 |
CDKL5 |
Intron |
X |
18008722 |
0.02 |
0.12 |
0.17 |
0.25 |
hCV2499227 |
GTTGACCGATGCCCTTACTACATATTTTTTTCTGCCTAGA[C/G]TAAATGTGGGGTTTATTGTAATCCAAGAGTATCCCTTTGA |
C |
C |
C___2500908_10 |
|
|
protein
phosphatase, EF hand calcium-binding domain 1 |
PPEF1 |
|
X |
18065960 |
0.42 |
0.28 |
0.28 |
0.25 |
hCV2500908 |
GAGATAAGTGAGTCTGTCCCAGCACTCTCTCCAGGTACCC[C/T]GAGATTCACTCATAATATCTTTCTTTAGCTATACGCCCAC |
T |
T |
C___2500912_1_ |
rs2238951 |
IMS-JST019944 |
protein
phosphatase, EF hand calcium-binding domain 1 |
PPEF1 |
Intron |
X |
18078629 |
0.48 |
0.25 |
0.26 |
0.2 |
hCV2500912 |
GCATTTGGTTGGGAGAGCCAGCTGTATAGCTACATTGTCC[A/G]CTATTTTTTTTGGAGCCTGAGTAATTATGCTATCATTTAC |
G |
G |
C____575446_1_ |
rs2283716 |
IMS-JST033311 |
protein
phosphatase, EF hand calcium-binding domain 1 |
PPEF1 |
Intron |
X |
18160799 |
0.47 |
0.4 |
0.31 |
0.23 |
hCV575446 |
GATTTGAGGTACTATTGAGTAGGCAGTTGAGTGTACATAC[G/A]TGTCCAGAGATCAGAAATGAAGTGTGGCCTGGAACATCAT |
G |
G |
C____575447_1_ |
rs2283715 |
IMS-JST033310 |
protein
phosphatase, EF hand calcium-binding domain 1 |
PPEF1 |
Intron |
X |
18160931 |
0.49 |
0.5 |
0.3 |
0.23 |
hCV575447 |
TCCCAAAGGAGAAAGTGAGGGGAGAAGAGAGCCTAGGATG[G/T]AATCTGAAGGAACTACCACATTTAAGGTGAGGTAGAGGAG |
G |
G |
C___2970139_10 |
|
|
protein
phosphatase, EF hand calcium-binding domain 1 |
PPEF1 |
Intron |
X |
18176336 |
0.4 |
0.49 |
0.38 |
0.29 |
hCV2970139 |
AGTCCAAAATATTTAAAAATCAAGTAAGCATGAGAGGCAT[T/C]TCATAGCAAGTAGGAAAGGATGCCTCCTTAAACCTTGACA |
T |
T |
C___1210128_1_ |
rs2239436 |
IMS-JST010579 |
protein
phosphatase, EF hand calcium-binding domain 1 |
PPEF1 |
Intron |
X |
18186271 |
0.35 |
0.19 |
0.38 |
0.3 |
hCV1210128 |
AGACACCAAGTGGTGAATGCACCCATATTTGAAACCAAAA[A/G]GAGCAATTTTAAATTCATACATCTTTTTAGATGGATAAAG |
G |
G |
C____575451_10 |
rs183007 |
|
protein
phosphatase, EF hand calcium-binding domain 1 |
PPEF1 |
Intron |
X |
18198261 |
0.36 |
0.4 |
0.36 |
0.3 |
hCV575451 |
CTGATAGTATGCTAGACTAGATGTTCTGGAGGGCCTTCTT[G/A]TTAACAAACAGCTAGATTTTGGAGGATGTAGAATGTTAAT |
G |
G |
C____575475_10 |
rs239753 |
|
|
|
|
X |
18247865 |
|
|
0.25 |
0.48 |
hCV575475 |
GTTATGTCACCTTTCTGACTCCTCCTCTTGTGAACTTCTG[C/G]CTTCTTTCTCTTTTTCTTGATCTGGCTTGTAAGAGATTTG |
C |
G |
C___1206341_10 |
|
|
phosphorylase
kinase, alpha 2 (liver) |
PHKA2 |
Intron |
X |
18298636 |
0.1 |
0.16 |
0.25 |
0.38 |
hCV1206341 |
GCTGTTTGGAAAAACTTTATCCCAGGAAAAAAAAACTACC[G/A]GTCAAGATAGTGTTTACATCTCGTCCTCCCAAGATGAACT |
G |
G |
C___1563436_10 |
|
|
phosphorylase
kinase, alpha 2 (liver) |
PHKA2 |
Intron |
X |
18315810 |
|
|
0.16 |
0.03 |
hCV1563436 |
AAAAAGCTCTCATGGCAACAGATTAGAGTTCAGACACAGG[A/G]CAAAGAAATGCACAAATACCCTCAGCTCCAGGAGTGCAGG |
A |
A |
C__11882572_10 |
|
|
G
protein-coupled receptor 64 |
GPR64 |
Intron |
X |
18428238 |
0.31 |
0.09 |
0.44 |
0.34 |
hCV11882572 |
GATACTGGGGGATCATTCCCCGCCCTTCCCAGTGCCTCTG[A/C]AACTAGACACATGGCTAGCAATCTACGCTGCTGGTCCTGG |
C |
A |
C__11882533_10 |
|
|
SH3-domain
kinase binding protein 1 |
SH3KBP1 |
Intron |
X |
19040084 |
0.45 |
0.07 |
0.17 |
0.23 |
hCV11882533 |
CAACAGCCATCACCACAGAAGTCATTGCTGAGGAGGAAAA[G/A]GCTAATGGAACAAAGAGCTTTCAGGTCAAGAAGGCATCAG |
A |
A |
C___8336895_10 |
rs900687 |
|
SH3-domain
kinase binding protein 1 |
SH3KBP1 |
Intron |
X |
19141421 |
0.1 |
0.47 |
0.09 |
0.03 |
hCV8336895 |
CATTGTTAAGTTGAAGAAAGCAAGTTGCAGTATAGCACAC[G/A]TAGTAAGAGTCCATTTGTGTCCTCTTGTTATGTATTTTTT |
C |
C |
C___8790152_10 |
rs1350837 |
|
|
|
|
X |
19883278 |
|
|
0.25 |
0.3 |
hCV8790152 |
TCGTGTGTTCTTGGCATCTTTGTTGAAATTCACCTGGCTT[T/C]TTAGTGTTCTTGTATTTCATATGCTTATCATGTCAGTAGG |
G |
G |
C___9202501_10 |
|
|
connector
enhancer of KSR2 |
CNK2 |
Intron |
X |
20774444 |
0.41 |
0.09 |
0.32 |
0.35 |
hCV9202501 |
TAAGTGACAGAAATGTATTGACTTTTCATAGGAAAAACAG[T/G]CAATTGTAAGAAACAAATGAACCAATTCGTTTCAGCTTGG |
T |
T |
C___3257013_10 |
|
|
connector
enhancer of KSR2 |
CNK2 |
Intron |
X |
20912431 |
|
|
0.05 |
0.03 |
hCV3257013 |
GGAAGGACAGCATCCCTGCTAATTAGTTCAAACTTGATCA[A/G]TGGGAGCTGAGCAGAAGCAAAGTTGTTTTTAGCTCCTCCA |
G |
G |
C__15787696_10 |
rs2382625 |
|
small
muscle protein, X-linked |
SMPX |
Intron |
X |
21099459 |
0.33 |
0.22 |
0.48 |
0.45 |
hCV15787696 |
AGATAAACAACTTTTGGTGTTTTAAATAAATGTAAGAAAT[T/C]CTGGGTGGTAAGGATCAGGAGGGGTGAAAGAAAAGCAAAT |
C |
C |
C__15954505_10 |
rs2226977 |
|
small
muscle protein, X-linked |
SMPX |
Intron |
X |
21107707 |
0.42 |
0.33 |
0.42 |
0.43 |
hCV15954505 |
TGGGCAAAGTCCATGTCATCCCCAGCACTGCCATAATCGG[A/T]GTTTTTCTGTCTCCTCTCCTCTCCTTTCCCCTCCTCTCCC |
A |
A |
C___2776782_10 |
rs743626 |
|
small
muscle protein, X-linked |
SMPX |
Intron |
X |
21121426 |
|
|
0.43 |
0.44 |
hCV2776782 |
ACCTCCATCCTATGAAAAATACTAGTTGGCCATTTGTATA[T/C]GTGGCTAATTATAAAGTAGGTGTTCACACACCAAGCTGTA |
C |
C |
C___2776676_10 |
rs730678 |
|
membrane-bound
transcription factor protease, site 2 |
MBTPS2 |
Intron |
X |
21235986 |
0.09 |
0.2 |
0.25 |
0.42 |
hCV2776676 |
CCTCTGCAGCTCCCACCTCACTCCCCTCAGCGTTCTTTTT[T/C]CCACGGTCTTCCCGTTGCCGCTAACCTAACTAACTCTCAG |
T |
T |
C__15861112_10 |
rs2071191 |
IMS-JST006527 |
membrane-bound
transcription factor protease, site 2 |
MBTPS2 |
Intron |
X |
21248813 |
0.1 |
0.07 |
0.25 |
0.43 |
hCV15861112 |
GGAAAAAATTTTATCATTTTAGTCTTAACAGTCAGCAAGT[T/C]GGCTTTTTTTCAATTGTGAAAAATTCAAAATCTTGGAGAA |
T |
T |
C___1844208_10 |
|
|
membrane-bound
transcription factor protease, site 2 |
MBTPS2 |
|
X |
21263329 |
0.34 |
0.21 |
0.49 |
0.44 |
hCV1844208 |
CTTGGTAGTATAGTGAGAATGGCTATACGTGAGTACAAAC[A/G]TGGATTTTCCAGGGCTTGGGAACTGATTCTTGAGCCCAGA |
A |
G |
C___1844237_1_ |
rs2238958 |
|
spermine
synthase |
SMS |
Intron |
X |
21324569 |
|
|
0.49 |
0.48 |
hCV1844237 |
AAAACCCGCACACAAAAACAGTGGTGAGTGAGCTGCTGTA[A/G]CCTCTTCTTGCCATGTTGGAGTGGAAGGTCTCTAACAGGC |
A |
A |
C___2776264_1_ |
rs2238964 |
IMS-JST019957 |
spermine
synthase |
SMS |
Intron |
X |
21343448 |
0.23 |
0.24 |
0.1 |
0.2 |
hCV2776264 |
TTTATATGCTTTCAAAACAGAAAACATCTGTTCTAGCCAA[A/G]GAGGGATTGCTTAATTTCAGAATGGCTCTTCAGATTCAGG |
A |
A |
C___2776267_1_ |
rs3747276 |
|
spermine
synthase |
SMS |
Intron |
X |
21346890 |
0.3 |
0.12 |
0.25 |
0.28 |
hCV2776267 |
AAGAACGGCAGGTGAGCAGTCTCCAGTGCTGTTCTTCATA[T/C]CTGGTCACTTATGAGCAGAGAGGGTGACAGAGTGGAGGAT |
T |
T |
C___1844216_10 |
|
|
spermine
synthase |
SMS |
|
X |
21377564 |
0.17 |
0.35 |
0.15 |
0.09 |
hCV1844216 |
AGGTGCTTAACTGTTTTTGTACCTTGGACTCATTCAGCAG[A/C]TGCCTGGTGAAACCTGTGAACTCCTTCTCAGAAACATTTT |
A |
A |
C__15756143_10 |
rs2301305 |
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21439153 |
0.32 |
0.1 |
0.15 |
0.23 |
hCV15756143 |
CATTATTCTCAGAATGGTCCATAGGTTTCAACAGACTGCT[C/T]AAGAGATGTAGGCAGAAAAAACCATTAAGAACCCCAGTGT |
#N/A |
#N/A |
C___2187781_10 |
|
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21443123 |
0.23 |
0.19 |
0.16 |
0.11 |
hCV2187781 |
AAGGAGGCAATTGTGTTTCGCCTGAGGTCTGAAGGCTGCA[T/C]AGCCCGCTGTGTCTCAGGACGTTCACAAAGCTGCCCTCAC |
T |
T |
C__15869299_10 |
rs2071585 |
IMS-JST007122 |
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21476131 |
0.32 |
0.49 |
0.16 |
0.21 |
hCV15869299 |
ATTTGCCCCTAGAGGTGAAGGGATGGTCTGTGGTTCATGA[A/C]ATATTGAAATCATTATCTGGAGACCACAGGTGACAATGGG |
#N/A |
#N/A |
C__11896955_1_ |
rs2285066 |
IMS-JST035131 |
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21498304 |
0.34 |
0.37 |
0.43 |
0.25 |
hCV11896955 |
GTGTTCTCCTCCTTTTCACTGGGGAAAACACATAATTCTA[T/C]ATTACTGTTTCACTAAGACTTCCTACATCCAACTGTGCAT |
C |
C |
C___7622576_1_ |
rs1002793 |
IMS-JST023637 |
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21514209 |
0.26 |
0.34 |
0.42 |
0.33 |
hCV7622576 |
GAATTCCAGAGATTCTGATAGAGCTGGAATTCAAGTGGGT[A/G]GAGCATACCTGCTAGACTCTTGATGGATGCTTCTCTGCAG |
G |
A |
C__15876765_10 |
rs2269467 |
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21517625 |
0.27 |
0.33 |
0.44 |
0.38 |
hCV15876765 |
TAGCTAAGATACTCGTTGCTGACTGCCTTTCTTTCTCTAC[A/G]TATTTCCTCTTTCTCCTACCAGTGTTTCTTTTGCTGCCCA |
#N/A |
#N/A |
C___2187809_10 |
|
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21523828 |
0.25 |
0.18 |
0.48 |
0.33 |
hCV2187809 |
TCCCTCACTAAATAACATGCTCCATTATAGTGTCTTAAAA[T/C]TGGGAATGAAAAAGTGATGCCAGTTACATAATTACATTGT |
T |
T |
C__15756135_10 |
rs2301316 |
IMS-JST057331 |
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21530239 |
0.3 |
0.21 |
0.26 |
0.22 |
hCV15756135 |
CAACTTGGTCTAGAGCTTTCCCTGTCTCAAGTTTTTGAGC[A/C]GTATCTTGCTTCTTCCCTGTTTTGTTGGGCTGAATCTTAG |
C |
C |
C__15756132_10 |
rs2301319 |
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21541321 |
0.18 |
0.45 |
0.29 |
0.22 |
hCV15756132 |
ATTTATTCCTTTGGCTAATAAACTACTCTTTTAAATAAAA[G/A]TATTTCTCCAGAGTAAATATATTAGATTGCTATTAGTGAC |
A |
A |
C__15876755_10 |
rs2269468 |
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21542421 |
|
|
0.2 |
0.13 |
hCV15876755 |
ATCTTCAGCATGTAGATTTTTTCCTCATATGTGTTGCCTT[C/G]TGATTACTAGATGGCTGCTCGGCTTCTGGCATTGCATCAG |
C |
C |
C__15876743_10 |
rs2269472 |
IMS-JST023644 |
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21551143 |
0.26 |
0.35 |
0.28 |
0.27 |
hCV15876743 |
ACCATCACCTCCTCCCTTCTGTGACCCTAGACACAGGAGT[C/A]GCAGCTGTGTACTCCTGTGACTCTCACAGAGCCAAATCAT |
#N/A |
#N/A |
C__11915172_10 |
rs2040394 |
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21562544 |
0.5 |
0.03 |
0.44 |
0.4 |
hCV11915172 |
TTCCTAAAATGGTTATTTGTTGACAATGTTGTCCAGTTTT[G/A]TACTTGGTTTTTGTAGAAATGATTTGTCAACCTTCTCATG |
A |
A |
C__15861298_10 |
rs2071582 |
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21569721 |
|
|
0.26 |
0.2 |
hCV15861298 |
ATTCTAGAATTTCTCTTTAAAACTTTTTCAAAAGCACTGG[T/A]GTGCTGACTTTTTTTCTGTTAAGTTAGTAACAATAAATAA |
#N/A |
#N/A |
C___2187832_10 |
rs2301325 |
IMS-JST057340 |
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21594671 |
0.29 |
0.36 |
0.19 |
0.09 |
hCV2187832 |
CTGGAGACTAGGAAATAGTCTGGTTGGATTTCTGAAGTTA[T/C]TGATGAAGTAATTTGTTTATTGGGTCTGTGAGCATGTTAG |
#N/A |
#N/A |
C___2187834_1_ |
rs2285073 |
IMS-JST035138 |
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21595576 |
0.11 |
0.14 |
0.4 |
0.23 |
hCV2187834 |
TAGAAAAGACATTTCAGATCAGCATTATGGAGAGCTATTA[T/C]GTTTAGACCCGCCCAAAGAGGAAATGGGTTACCTTAGAAG |
T |
T |
C___2187845_10 |
|
|
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21607840 |
0.29 |
0.23 |
0.16 |
0.13 |
hCV2187845 |
ACATACGGGCAGCCTTTTCAAAGAAGTCAGGGATAGGTCA[G/A]TAAAGGTTCTAGTGAATGGCCTCACCGTGGGCAAATGTGT |
G |
G |
C___2187849_1_ |
rs2301331 |
IMS-JST057346 |
phosphate
regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D
resistant rickets) |
PHEX |
Intron |
X |
21626584 |
0.31 |
0.34 |
0.13 |
0.1 |
hCV2187849 |
CAATGGCAATACCACTTCCAAAAGGCAGCTACAATCAAAG[T/A]GCTGAGTAGGAATCCAGTCTTTGCTGTAGTTGGAAGCCTG |
A |
A |
C___1554170_10 |
rs1828078 |
|
|
|
|
X |
21816468 |
0.38 |
0.37 |
0.3 |
0.26 |
hCV1554170 |
CCTGAACACCTTGATATAGGTTTAAGTGTGGGACAGTCTG[A/C]AAAGTGATAGCATTTAGCATTTTTTTCCCCTCAAAAAGAA |
C |
C |
C___7627137_10 |
|
|
|
|
|
X |
22492627 |
0.27 |
0.47 |
0.28 |
0.19 |
hCV7627137 |
CATCATTATTTGCAGAGGACCAAAGGCAGAGGCATCTCCC[G/A]TTACAGAGTTGTCACAATCACAATCTTTCCCACGGTAGAA |
A |
A |
C___2182597_10 |
rs1859392 |
|
|
|
|
X |
22650832 |
0.23 |
0.13 |
0.45 |
0.4 |
hCV2182597 |
GGCATTTCGCAAGAGGTAGTTCCTATGTAGGGACTTAGGA[A/G]GGAAGACTAGGGAAGGGAAAGAAGAAACTATGCTTAGATA |
G |
G |
C____345332_10 |
rs4828977 |
|
|
|
|
X |
22652982 |
0.37 |
0.05 |
0.05 |
0.05 |
hCV345332 |
GTCGAAATAGATATTAGTTGGCCCTTGATTTAAGAAAAAA[T/C]AATATGGTCTGCTTATGCTGACATTTGTTGATTTTAGTGT |
C |
C |
C___2182604_10 |
|
|
|
|
|
X |
22665071 |
|
|
0.05 |
0.03 |
hCV2182604 |
CTACCAGCATTAAAACTATAGAATGGGAGTGTTGAGAGTA[C/G]TATTGAATTGCCCACAAATCTAACTCCAAAGAGCCTATAG |
C |
C |
C___2182615_10 |
rs2363165 |
|
|
|
|
X |
22683619 |
0.47 |
0.08 |
0.04 |
0.13 |
hCV2182615 |
AAGATCAATTCAGGAAAGCCTCGCCAATCAGAGGTCCAAC[T/C]TGCAGCTGCCTCAGCCAGTTGTAACACAGGGAACCCCAAA |
C |
C |
C__12027745_10 |
rs1918559 |
|
hypothetical
protein FLJ30296 |
FLJ30296 |
Intron |
X |
22732111 |
0.36 |
0.07 |
0.26 |
0.14 |
hCV12027745 |
ACTCCGAGAATTATTTGGCATTTGAATAGCTCATCAGAGG[G/A]GACTGGAATGACCTAGAATGGTTTAAATAGAGGTTGGGAT |
G |
G |
C__11851614_10 |
|
|
hypothetical
protein FLJ30296 |
FLJ30296 |
Intron |
X |
22765276 |
0.47 |
0.11 |
0.48 |
0.29 |
hCV11851614 |
ACTCAAGAACCAAAATATAGACAGATGGAGCCCAACAGAG[A/G]GATTCTATAGCCCCTTCTCTACACTGATTGGTGTAGCAAC |
G |
G |
C___9475960_10 |
rs1317583 |
|
hypothetical
protein FLJ30296 |
FLJ30296 |
|
X |
22774362 |
0.47 |
0.1 |
0.32 |
0.42 |
hCV9475960 |
GGCCATCACTCATGGACTAAAATTGATTCACCGCTAAATT[T/C]ACCCAGGTGAAGCAGTTTCGTTGTCTAGAATGAAATTATC |
T |
T |
C___2764057_10 |
rs925343 |
|
|
|
|
X |
23013075 |
0.43 |
0.44 |
0.28 |
0.23 |
hCV2764057 |
CCACCTCAACCTTCCCTGTGGAACCTACTGTGACAGTACA[A/C]TATCTGCCCAAAGGAAGCAAGCACTAGAAGGATTCTGAGC |
A |
A |
C____590658_10 |
|
|
peroxiredoxin
4 |
PRDX4 |
|
X |
23044303 |
0.1 |
0.23 |
0.09 |
0.03 |
hCV590658 |
TAAGGACACACCCTCCCTCAGCAGAAGGAGGCTGGCATCA[C/T]CTTTTTCATCCTTTACCTCCAGGAAGCAGGGGCCGGGAGG |
T |
T |
C____590688_10 |
rs482702 |
|
peroxiredoxin
4 |
PRDX4 |
|
X |
23067679 |
0.44 |
0.27 |
0.36 |
0.17 |
hCV590688 |
TTAGTATGGTTTACAAGGAGAACTATTTGTAGGTCCACCC[A/T]GAAAAACCAGTCATTAATGTTTCATTCAACATTCAGCAAC |
A |
A |
C___1250108_10 |
|
|
likely
ortholog of mouse acyl-Coenzyme A thioesterase 2, mitochondrial |
ACATE2 |
Intron |
X |
23098067 |
0.18 |
0.04 |
0.24 |
0.16 |
hCV1250108 |
CTTTTTCAACCTATTTGTCCAAGAGGCAAATTGTCAAGAT[G/T]CCCTAAAAGGCAGGTCCTGTGCCAGGAATCTGCTGTGCAT |
G |
G |
C___1250123_10 |
|
|
likely
ortholog of mouse acyl-Coenzyme A thioesterase 2, mitochondrial |
ACATE2 |
Intron |
X |
23107790 |
0.43 |
0.08 |
0.21 |
0.16 |
hCV1250123 |
AGGTGGGAGCAAGTAAGGTAACCTAGAGTAGGGTGCTGGC[A/G]TCCAAGCACGGTGAGGAGGACATCCTTGCAGAGAGGCTGC |
A |
A |
C___1250104_10 |
|
|
|
|
|
X |
23145290 |
0.38 |
0.33 |
0.08 |
0.11 |
hCV1250104 |
GAGTCTCAGATCATCAGTATTATAATCCCTATTGCACTTT[T/C]CTTGAAGCATTTTACCTTCCTGACCGGACACCATCTGTTC |
C |
C |
C___1250137_10 |
rs1978240 |
|
|
|
|
X |
23177041 |
0.3 |
0.12 |
0.35 |
0.22 |
hCV1250137 |
GGGAAGAATCTAGGTGGTGCTGCGTGTGTGTGGTTTACAT[T/G]CCAGTCTGTATTTTAAGAGGTTTCCAAGCCGATTTTAATT |
G |
G |
C__15888855_10 |
rs2520233 |
|
hypothetical
protein FLJ25444|hypothetical protein MGC4825 |
FLJ25444|MGC4825 |
Intron |
X |
23288596 |
0.15 |
0.27 |
0.12 |
0.1 |
hCV15888855 |
CCTCTTAAGAAAGAGAAAAGCAGCCCTTAACATCTGGGAG[C/T]TAAGCTGGGCTTAACTAACACCAAGGCTGGCAGTCACAGC |
G |
G |
C__16275512_10 |
rs2707164 |
|
hypothetical
protein FLJ25444|hypothetical protein MGC4825 |
FLJ25444|MGC4825 |
Mis-sense
Mutation |
X |
23289915 |
0.28 |
0.22 |
0.38 |
0.28 |
hCV16275512 |
AATGATCTTGCATTTCGTGCATTTGCGAAATGTACTCTGC[G/A]AACTTTTTGTAAGGATCTTGTACCTGATTTCAGAATACCT |
T |
T |
C___2538257_10 |
rs2520229 |
|
hypothetical
protein FLJ25444 |
FLJ25444 |
Intron |
X |
23301105 |
0.27 |
0.21 |
0.38 |
0.3 |
hCV2538257 |
ATATTCCATATTTACAAGTTTTCTATCAACCATGAATCCA[A/G]GTGTTACCAGAGTTTGAAGCTGAACTAAAGGGAAAAAGGA |
C |
C |
C___2539995_10 |
rs2704838 |
|
zinc
finger protein, X-linked |
ZFX |
Intron |
X |
23540468 |
0.26 |
0.21 |
0.48 |
0.29 |
hCV2539995 |
AAAGTTCTAAATAATTTTAATGGGCAACAGGAAAATTATG[A/G]AGATCACAATATATTTAGAACTAAATAATAAAAACCAATT |
T |
T |
C__15889097_10 |
rs2520324 |
|
zinc
finger protein, X-linked |
ZFX |
Intron |
X |
23552947 |
0.39 |
0.39 |
0.39 |
0.33 |
hCV15889097 |
TCCATCTTCCTGAAGCAGAAGTCTCTTTTTGGGAACTTGC[A/G]AGAGAGAGAGTTATAAAAATAGGACAGGGTCAATGTGGGA |
T |
T |
C___2539984_10 |
rs2464544 |
|
zinc
finger protein, X-linked |
ZFX |
Intron |
X |
23566538 |
0.39 |
0.39 |
0.07 |
0.39 |
hCV2539984 |
ATTTTTATCAAGAGACAATAGCTACTGGTAGGGAAGAAAT[G/T]TATCGTTAATGCCTTGGATGAGGCATGATGTACACGGACT |
A |
A |
C__16271541_10 |
rs2704818 |
|
zinc
finger protein, X-linked |
ZFX |
Intron |
X |
23575436 |
0.4 |
0.27 |
0.4 |
0.33 |
hCV16271541 |
AAAGAACCAAAAATTGTAACACACTTATCATGAAAAGTCA[C/T]GGGAAAGGGAGGTGAGAACAAAAGTGAGCAAAATTGTCAG |
G |
G |
C__15889038_10 |
rs2238925 |
IMS-JST019918 |
zinc
finger protein, X-linked |
ZFX |
Intron |
X |
23584234 |
0.29 |
0.39 |
0.46 |
0.43 |
hCV15889038 |
GCTACGTTAGTCCCAATCAGGGCTCGTCAACTTCTGGAAT[T/A]TGGAGCATGGGGTTTAAATTGGTAGAGGCAACTGTGATTT |
T |
T |
C___2567491_10 |
rs929292 |
|
pyruvate
dehydrogenase kinase, isoenzyme 3 |
PDK3 |
Intron |
X |
23847676 |
0.35 |
0.19 |
0.34 |
0.44 |
hCV2567491 |
TTACTGATGTGCAGTACATCCACATAAGAAAGCCTATTTA[C/T]CAAGGTTGTAACAAATTGTGTATATCCTGTGTATCTCCTT |
G |
G |
C___2567495_10 |
|
|
pyruvate
dehydrogenase kinase, isoenzyme 3 |
PDK3 |
Intron |
X |
23853650 |
0.37 |
0.39 |
0.33 |
0.42 |
hCV2567495 |
GTGGCTGTGCAAAAGTAACTGGAAAATCAAACAAATGGGA[G/C]GTCAGTCTGCAGGGAGGGGAGAAAAGTGGTTAATATGGGA |
C |
C |
C___2569603_10 |
|
|
pyruvate
dehydrogenase kinase, isoenzyme 3 |
PDK3 |
Intron |
X |
23870030 |
0.38 |
0.38 |
0.32 |
0.44 |
hCV2569603 |
AATTTTCAGAGTTTTTTGAGTTCAGGATTCAGAGAAAAGC[C/T]TATGGTCCTGCGGGGCGTTGATGACAAAGGTCAGGTGCTG |
G |
G |
C__11280555_10 |
|
|
pyruvate
dehydrogenase kinase, isoenzyme 3 |
PDK3 |
Intron |
X |
23891565 |
0.45 |
0.24 |
0.3 |
0.48 |
hCV11280555 |
GAGGCATGTTTCAGTGTTCTGCACATTCAATTAATGCTAC[G/A]CAAGATGCACCCCACTTTTATATGTTGATACAACTGTCTA |
C |
C |
C___2569612_10 |
|
|
pyruvate
dehydrogenase kinase, isoenzyme 3 |
PDK3 |
Intron |
X |
23892368 |
0.47 |
0.21 |
0.33 |
0.49 |
hCV2569612 |
CACAGAGAAAGGCGGAAAGGCCATGACTTGGCAACTCCAG[C/T]TGCAAAGACACACAGAAAACAACCTTGTTTTCTGTTTCCT |
A |
G |
C___2569614_10 |
|
|
pyruvate
dehydrogenase kinase, isoenzyme 3 |
PDK3 |
Intron |
X |
23903310 |
0.39 |
0.31 |
0.15 |
0.32 |
hCV2569614 |
AAGACTTTTCAACTTGGCTTGAGGATGAGCAGGTAGTAAA[C/T]GGGCCTCTGAGCAGAGAGGCCCCCAAATGCTTAAACGAAC |
G |
G |
C__11726452_10 |
rs1882403 |
|
phosphate
cytidylyltransferase 1, choline, beta isoform |
PCYT1B |
Intron |
X |
23942172 |
0.31 |
0.35 |
0.47 |
0.39 |
hCV11726452 |
TCCTTACTATACATAGTCTTGGACAACACGGGATGTGGTA[C/T]GAGTGTAGGTTTGTGGGCTCAGGAGTTTTGGGGTAGTGGC |
A |
A |
C__16198615_10 |
rs2319591 |
|
phosphate
cytidylyltransferase 1, choline, beta isoform |
PCYT1B |
Intron |
X |
23944933 |
0.33 |
0.46 |
0.44 |
0.41 |
hCV16198615 |
AGCTGAGACATGACCACCTCTTCTACCCTCTTCTTCCCCC[C/A]CTTCCTCCTGTGTAGCACCTGGTCCCCAGAAGATCTCTGT |
G |
G |
C____107998_10 |
|
|
phosphate
cytidylyltransferase 1, choline, beta isoform |
PCYT1B |
Intron |
X |
23964682 |
0.33 |
0.48 |
0.44 |
0.41 |
hCV107998 |
GGACAGACCGCACTCCTGTTCTCTCATTTCTGCTGTCCGC[C/T]TCCCAATCCCTCTCTGCACTCCTCCCCTCAACTCCCAGAG |
A |
A |
C__11851748_10 |
|
|
phosphate
cytidylyltransferase 1, choline, beta isoform |
PCYT1B |
Intron |
X |
23999117 |
0.36 |
0.21 |
0.29 |
0.48 |
hCV11851748 |
ATGGCGTGCCACGCTTCTGAGTATGGCACTCTTTCCAGCC[A/G]AGTCTCCTGGGTGTGGGTGAGTCTAAATGTTTGAAGACTG |
T |
C |
C__16198726_10 |
rs2319654 |
|
phosphate
cytidylyltransferase 1, choline, beta isoform |
PCYT1B |
Intron |
X |
24015546 |
0.4 |
0.22 |
0.31 |
0.47 |
hCV16198726 |
AGCCCTAGTCAGGTAATCTGTGAATTAAAATCCGTGGCCC[G/C]CAATTGTGTACTATGCCTGGCCTCACAGTCAGACAGGTTG |
G |
C |
C__11502213_10 |
rs1921917 |
|
phosphate
cytidylyltransferase 1, choline, beta isoform |
PCYT1B |
Intron |
X |
24018201 |
0.36 |
0.19 |
0.32 |
0.47 |
hCV11502213 |
ACATCTTTAGCTGGTGCCCCACACAAAGCTTCTCAGTGAC[C/T]GTTAGGGAAATAAATGCAGGAAAATAATTATCCCATCAGA |
A |
G |
C___2267125_10 |
rs714522 |
|
|
|
|
X |
24047965 |
0.42 |
0.28 |
0.33 |
0.42 |
hCV2267125 |
AAGTGGACTCCGATTTTCTACAGCGAATACATTTATCAAA[T/A]GGAAAACTGACTCCCAGTTTGTTCTTTCCTCTTTACCAGT |
T |
T |
C__11851733_10 |
|
|
polymerase
(DNA directed), alpha |
POLA |
Intron |
X |
24100284 |
0.44 |
0.28 |
0.34 |
0.42 |
hCV11851733 |
CTTACCCTGCAAAACAATGCTCTGTTTACTAAGAGTATCA[A/G]CCAGTAAACGAAATGTAGAAATAACCAACTCATTTTCAAA |
C |
C |
C____278752_10 |
|
|
polymerase
(DNA directed), alpha |
POLA |
Intron |
X |
24235148 |
0.38 |
0.24 |
0.35 |
0.42 |
hCV278752 |
AGGACATTGGAGGAAAATTCTAACATTTCCATTGGAGCTT[T/C]GTCACAAGAAAATTTCAGCTCTGAGGATTTGGGAAAGAAA |
T |
T |
C____338381_10 |
|
|
polymerase
(DNA directed), alpha |
POLA |
Intron |
X |
24318631 |
|
|
0.2 |
0.33 |
hCV338381 |
TAAAAGGGGAAAGGAACTTGCCCACTAAAAAGACATAATG[G/C]GAAATGATTTTATAGAACGAGTAACACATCTGTTATCATA |
G |
G |
C___2257657_10 |
rs734305 |
|
polymerase
(DNA directed), alpha |
POLA |
Intron |
X |
24326295 |
0.22 |
0.14 |
0.32 |
0.39 |
hCV2257657 |
TTATTAGGCTCCTATCATGAGCAAGTTGCCATCAGACATA[T/A]AATAATGTATCAAGCATGATCCCTGTCCTCAAATAATTAT |
T |
T |
C____339468_10 |
|
|
polymerase
(DNA directed), alpha |
POLA |
Intron |
X |
24362268 |
0.41 |
0.09 |
0.48 |
0.34 |
hCV339468 |
AAAGCCAGTGGAGGGAGGGGAGGGACTTGAGATGGAGAGA[G/A]GATAAATTCCATTTGTGCTATTAAAAAAAAAGTAGAACAG |
C |
T |
C____342722_10 |
|
|
polymerase
(DNA directed), alpha |
POLA |
Intron |
X |
24367536 |
0.31 |
0.27 |
0.31 |
0.4 |
hCV342722 |
TTCCCTTCTCACTAGCCTCTTGTTCTCACAGCCTATGCTG[C/T]GGTGTTAGGGACAGTTTTGACTAATATAAACAGCTGGAAC |
G |
G |
C___2544749_10 |
|
|
aristaless
related homeobox |
ARX |
Intron |
X |
24391712 |
|
|
0.45 |
0.33 |
hCV2544749 |
GTTTAATGTAAACGGGTTTACCGGGTGGACAATGATTGCT[G/A]GAAGCCTGGCAGGGAGTAGACAAAGCAGTTGGGGGAATTT |
T |
T |
C___8719339_10 |
rs1481162 |
|
|
|
|
X |
24553274 |
|
|
0.4 |
0.5 |
hCV8719339 |
TCCTTGGGATTGGTCTCTCTCTACCCATCTGAGCTTCACT[A/G]TGATGTGGGGTAGGGGAGTGGGATGGGACATTCAGAGCAC |
C |
C |
C___9458565_10 |
rs1351449 |
|
|
|
|
X |
24604546 |
0.1 |
0.38 |
0.31 |
0.46 |
hCV9458565 |
ATAATCCAACAAGTTGAAGTCTTACCAGTTAGACCTACTA[T/C]ATGATTGAACTTCTCAATAAGTTGTTATTATCATTTGCAA |
A |
A |
C___9458582_10 |
rs999793 |
|
|
|
|
X |
24667769 |
0.33 |
0.09 |
0.35 |
0.46 |
hCV9458582 |
CCGGGGGAAGCCAGTACAGGTGAAGTGGTAGGGATTAATT[A/C]ATTAGTAACAGACATTTCTGCAGAGACAGTGAAGGTGTGC |
G |
G |
C____296305_10 |
|
|
|
|
|
X |
24908478 |
0.44 |
0.04 |
0.3 |
0.42 |
hCV296305 |
ATAAATCATTTGTAGATATGAACATACAATACCCCTCACC[C/T]CACTATTATTTCTTAAGAAATCGGAAGAAAAGTCAAAATA |
T |
T |
C____218282_10 |
|
|
|
|
|
X |
24914222 |
0.47 |
0.04 |
0.3 |
0.41 |
hCV218282 |
TGAGAGCCTAGCTAATAGCATGTGCTTCCCTGGCCTTACC[A/G]TCAACTGGCATCCTGCTAAGGAACAAACCCACTATCTCAA |
G |
G |
C____279151_10 |
|
|
|
|
|
X |
24936244 |
|
|
0.17 |
0.36 |
hCV279151 |
AAAAGCATATAATCCAATTATATATTTCAGGTAGATGAGT[A/G]TTCAAGGGGTAGAATAAAAGAGGGGTGAGTGGTTCTAAGT |
A |
A |
C__11603906_10 |
|
|
|
|
|
X |
24976806 |
0.48 |
0.06 |
0.17 |
0.28 |
hCV11603906 |
TCAAGCACAAGAAGTTCCAACCTCTCATCATAAGCACTCA[C/T]CTTTGGAATATCTTAATGTCCACCACTCTTAGGGGATCAC |
C |
C |
C__11603807_10 |
|
|
|
|
|
X |
25003195 |
|
|
0.08 |
0.13 |
hCV11603807 |
TCAGGTGCAGTAAATTTAAAAGTCTTACTCAGAATACTCA[C/T]TGACATATTGTAATCTGTCCACAGTGGTCAGGCAAATAGA |
T |
T |
C__11603900_10 |
rs3922856 |
|
|
|
|
X |
25009583 |
|
|
0.08 |
0.13 |
hCV11603900 |
ATTGTCCCTCAAATTATTTCTTGCATCAAATAGATTCTAA[A/G]TAGAGCTTTGATATCTTTCTTTCCAGTCATCCTCAAATGA |
G |
G |
C____243845_1_ |
rs895057 |
|
|
|
|
X |
25058676 |
0.25 |
0.18 |
0.08 |
0.33 |
hCV243845 |
CAGACAGTCTAAACCAGTCTAATCAGGTTGTGACCAGTCA[A/C]AACCAGTCTAAACCAGTAGAGACTGGTCAAAAACACTCAA |
C |
C |
C____282901_1_ |
rs1025952 |
|
|
|
|
X |
25097314 |
0.42 |
0.38 |
0.29 |
0.42 |
hCV282901 |
AGAATTACAGTGCTGGTAGAGAGGACTTGATAAAGCTTGC[A/G]GAACATTACCTTTCCTTGTGTCCTAAACTTTTTTTTCTTT |
G |
G |
C____282902_1_ |
rs1025953 |
|
|
|
|
X |
25097451 |
0.4 |
0.05 |
0.06 |
0.1 |
hCV282902 |
CCTCGGTGCTCTGAGAGAATCCCAGTGAGAGCACTAAGGG[G/A]AGAAAGGAAACTTACTGTACCTGACTCTAATGCCCCAAGA |
A |
A |
C__11603935_10 |
|
|
|
|
|
X |
25119277 |
|
|
0.27 |
0.4 |
hCV11603935 |
TGAGGGCGGCCAGTAGCTACTTCTAATACTTCTGTTCTCC[A/G]TTATCATGCTGCCCACCTCAGCTCTAAGTAACAATTTGAA |
G |
G |
C____332412_10 |
rs2313041 |
|
|
|
|
X |
25159851 |
0.09 |
0.02 |
0.49 |
0.42 |
hCV332412 |
TTACAGCTGAAACATAGACAATGTTGAACTCAAATGTTAG[G/T]AAACCCATGCCAACATTAGTAGAAGTGATGGGCATCAGAA |
A |
A |
C___7425596_10 |
rs959644 |
|
|
|
|
X |
25166941 |
0.31 |
0.3 |
0.37 |
0.29 |
hCV7425596 |
AAAGAATTCCAACCAAGTACAAGGCCCAAGCAGATCAGTA[C/T]TGCTGCATGGCAGATGTTAAAGCACTTCAGAGATGGTAGA |
A |
A |
C___7425605_10 |
rs1156145 |
|
|
|
|
X |
25176022 |
0.32 |
0.12 |
0.5 |
0.43 |
hCV7425605 |
AAAGAATACATTTGCTTCTCCCTCTGTTTTTTGATTTATC[A/G]TATTTAAGCACTATGCATTGACTCTATGTTATGAAAGAGG |
C |
T |
C___9219395_1_ |
rs1487642 |
|
|
|
|
X |
25242112 |
|
|
0.17 |
0.16 |
hCV9219395 |
CATACAAAAACTTTGCACTTTAACTTCTACCCCCATATTC[A/C]TGTTATTGATGTCAATTTACATCTTTTATGTATCTATCCA |
C |
C |
C___9219489_10 |
rs1032223 |
|
|
|
|
X |
25341629 |
0.47 |
0.15 |
0.27 |
0.34 |
hCV9219489 |
GCATTTCCTTCATCAGCTTTCATGGGATACCTGTGGATTT[G/T]CCTATGCAGAAATTCCCATCATTATACCAGTATTCATTGT |
T |
T |
C_____75355_10 |
|
|
|
|
|
X |
25428872 |
|
|
0.23 |
0.34 |
hCV75355 |
ATATATGTGGAATGGCCATGGGATCCTTTGTATTTCTTTT[C/T]TTCTGTAAGAAATTTATACCAGGTTATTAGTGTTACTGTG |
C |
C |
C___8729460_10 |
|
|
|
|
|
X |
25961925 |
0.45 |
0.24 |
0.02 |
0.08 |
hCV8729460 |
TGATTCTAACGGAGAGGTGAGCAAGAGGGCAATTAAGTGA[T/A]TGTGAGTACACCATCAGCCTTTCTTTACCTGGTCAAGTGA |
T |
T |
C___1902375_10 |
rs1016198 |
|
|
|
|
X |
26387661 |
0.44 |
0.19 |
0.43 |
0.45 |
hCV1902375 |
AGCTTAGATTTTGTGATCATTAGTGGCAAAAGTGAACTAA[A/C]CAGATGTACTAATCCTAATGCTATATTTCCTTTTCAATTT |
C |
A |
C___1358111_10 |
|
|
|
|
|
X |
27137412 |
0.1 |
0.21 |
0.39 |
0.4 |
hCV1358111 |
CAGACAGCTATGAGATACTGGGCAAAACTAACAATTCCAT[T/C]AGTTCAATAAGCAGGCGAAGCTGCCCCTTTAGCTTTAATT |
T |
T |
C___1358125_10 |
rs1368769 |
|
hypothetical
protein FLJ32965 |
FLJ32965 |
Mis-sense
Mutation |
X |
27200998 |
0.38 |
0.46 |
0.05 |
0.11 |
hCV1358125 |
GAATCTCCCCCCTCTGCCTCTGCTTGTTTGAAGGATGTTT[T/C]CCAGAGTTCACTTGATGGGGCATCCAACAATCCCCATGGA |
C |
C |
C__12114863_10 |
rs2057784 |
|
|
|
|
X |
27369910 |
0.05 |
0.47 |
0 |
0.1 |
hCV12114863 |
GAAAAAACATGATAAAAAGGTCCTAAACACACACAGTTGC[A/G]TATACAAACTTACAGCCCTCTTTCCTTACAGGAGCCATCA |
A |
A |
C___7426963_10 |
rs1461507 |
|
|
|
|
X |
27370381 |
0.05 |
0.16 |
0 |
0.09 |
hCV7426963 |
TTTCTTTCATTTTTTTCTCACCAAATACCTCAATGAATTA[T/C]AAACTTTCAGATCTCTGTTACTATAATAAAAATCTGTACC |
T |
T |
C___2255227_10 |
rs197022 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
|
X |
28044121 |
0.37 |
0.23 |
0.47 |
0.29 |
hCV2255227 |
CCAAGGTGATCCCACAGTGCTGACTTTGTCCAATCATTCC[C/T]GAGGCTTAATCTTTTAAGTATGATCAATGGTTCTTTGTGT |
C |
T |
C___2255221_1_ |
rs196984 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
|
X |
28051589 |
|
|
0.16 |
0.14 |
hCV2255221 |
TTCAGTAGTGTTTTTGTGCCTGCACAGAATATAATCTCTA[G/C]AGGCTTAAATATCAACATTTGTAACTGTATGGGTATGATG |
G |
G |
C___8819295_10 |
rs1015928 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28723378 |
0.48 |
0.09 |
0.16 |
0.2 |
hCV8819295 |
AGAGAGAGAAAGACTAATGTGGGCCAAGAAGTGAAAGCTA[A/C]TTAAGAAGAGTTTCTCACTAATGTTTTTGGGAATCTTTAG |
C |
C |
C___8879738_10 |
rs1028361 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28769842 |
0.33 |
0.46 |
0.19 |
0.26 |
hCV8879738 |
ATAATATTTTTCAAGTGTCATAAGCCTTTGGCACTGAAAA[G/C]CAGCACAGAGTGGCAGCAGATCTGAAGGTTCAGTTACTAC |
G |
G |
C___2461343_10 |
|
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28771046 |
0.34 |
0.32 |
0.19 |
0.25 |
hCV2461343 |
TAAAGTCCCCAAAATCTGATAAGTGATATAAGGGAGCAAA[T/C]GACCTGAAATACTATGTTTTCTTCATATTTTTCTACTATA |
C |
C |
C___2461344_10 |
|
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28771109 |
0.48 |
0.24 |
0.17 |
0.22 |
hCV2461344 |
TAATGACCCAAGTTTTCAAAAAAATCCATGATCTAACTTG[A/G]TTTTTTTGAAAATTTAGGTCCTTAAAGTCCCCAAAATCTG |
G |
G |
C___8879761_10 |
|
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28781096 |
0.42 |
0.28 |
0.23 |
0.22 |
hCV8879761 |
AATGATGTGCAGAAAACCAAGATAAAAAACAGTGATTCCT[T/C]ATCATTCAGATACTGCCCATGTTTGTTGCTTTAACTGAGG |
C |
C |
C___8879762_10 |
rs1014724 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28781336 |
0.42 |
0.24 |
0.23 |
0.22 |
hCV8879762 |
TTGAACCAGTACTTCACTTAGCTAAGGATATACATTTTCA[G/A]TAAGGGAAGGATCGATCACCCATAAAAGCTCACGATGCTG |
G |
G |
C___2970733_10 |
|
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28866242 |
0.47 |
0.17 |
0.23 |
0.33 |
hCV2970733 |
CTGCAGTCCCTGTGATGTCTGAGAACTTCTGAACTTCTGA[C/T]CACTTATCCATAATTACACATCAGAGCAGAGCTGCATCCC |
T |
T |
C____576165_10 |
rs727561 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28890571 |
0.44 |
0.23 |
0.27 |
0.27 |
hCV576165 |
CTCCTTTACTAGAGGTTTTCAAACATAATATCCATGGGTA[G/T]AGATCATCTCACTCGACTATAAAGAAGGAGTTCAAGCAGC |
G |
G |
C___2970796_10 |
rs1016206 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28903483 |
0.44 |
0.39 |
0.24 |
0.23 |
hCV2970796 |
GAAAGGCAAAAAGAAAAGACAGAAACAGCATATGAATAAA[T/C]ACTAAAAGAAATGGAGAAGAGTTAGGAATCATTTTCCTCC |
C |
C |
C__11179081_10 |
rs2143145 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28915897 |
0.08 |
0.08 |
0.09 |
0.05 |
hCV11179081 |
TTTCTTTTTCATTTTGTTACTTCTTTTCGCCTGAAAAATA[T/C]TAATGAAGCTATTTGGAGTAGACATGTCATGAATAGATTT |
T |
T |
C__11179088_10 |
rs2340364 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28942979 |
0.24 |
0.47 |
0.4 |
0.23 |
hCV11179088 |
TTTTCAACAGGTGTTGCCTAAAATCTGACTTGTAGATTAC[C/T]AAGAAAATAAAAACCACTTACAGAAAACTAGGTATATCAT |
T |
T |
C___2451134_10 |
|
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28984896 |
|
|
0.34 |
0.45 |
hCV2451134 |
ATTGGTAAGTTATGATGTGTTAGTGGGTTATAAATTACAC[T/C]AAACAGAAAACCTCAATTCAGCTACTTAAACAAATAAGGG |
T |
T |
C____414855_10 |
|
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
28994185 |
0.32 |
0.46 |
0.34 |
0.44 |
hCV414855 |
TTTTACTTACACATATAGTTAATATTAGTGTACGGTAAAG[C/T]TTCTCCACACATCTAGGAAAGAAACAGGAAAATGCATTAT |
A |
A |
C__11874359_10 |
|
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
29003538 |
0.48 |
0.19 |
0.33 |
0.45 |
hCV11874359 |
ATATTAGGAAGTCAATAAGAATACTGACAAACTGGCATGT[A/G]AGTCAGGTTTGCCTGCATCAGGTTTGAAAATTATTCTATT |
C |
C |
C___8819314_10 |
rs1419851 |
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
29303156 |
0.1 |
0.49 |
0.1 |
0.03 |
hCV8819314 |
ATAATCAAAGTAAAGCGCTGACAAATTAGATATTGGGTTA[T/C]TTCTTGTTCTTGTTATTGCTCATACTTGATTGAATTCCAC |
C |
C |
C__11602811_10 |
|
|
interleukin
1 receptor accessory protein-like 1 |
IL1RAPL1 |
Intron |
X |
29305928 |
0.47 |
0.06 |
0.48 |
0.39 |
hCV11602811 |
TCGAGGGCCAAGAATAATAAACTCTTTAGTCTTTAATCAT[T/G]CCTGTTGATCATTCATGTGGGCCAAAGCTCTTAAATATTT |
T |
G |
C___2610323_1_ |
rs2071310 |
|
melanoma
antigen, family B, 4|melanoma antigen, family B, 3 |
MAGEB4|MAGEB3 |
Silent
Mutation |
X |
29615956 |
|
|
0.37 |
0.44 |
hCV2610323 |
CTGAGATCCTTAAAAAAGCTTCTTTCAACATGGAGGTGGT[A/G]TTTGGTGTTGATTTAAAGAAAGTTGATTCTACCAAGGACT |
G |
A |
C__11872632_10 |
|
|
nuclear
receptor subfamily 0, group B, member 1 |
NR0B1 |
Intron |
X |
29686925 |
0.1 |
0.03 |
0.13 |
0.16 |
hCV11872632 |
GAAAGTTTAGTGCAGCCAATATCCCACTGGGCCCAGAAGA[C/T]AGGACCCTCAGGTGCCACAACACACCAACCATTTACTTTG |
T |
T |
C___8821444_10 |
rs1034948 |
|
nuclear
receptor subfamily 0, group B, member 1 |
NR0B1 |
|
X |
29692775 |
0.16 |
0.36 |
0.19 |
0.16 |
hCV8821444 |
ATTGCGTGCTTGTCCTTCACAAGTATTCATCCTTGAAAAC[G/A]TCACGAGAAAACTGACTTCATCTTTCCACTTTCCATTTTT |
A |
A |
C___8821447_10 |
rs887369 |
|
hypothetical
protein FLJ11577 |
FLJ11577 |
Silent
Mutation |
X |
29939272 |
0.23 |
0.12 |
0.17 |
0.03 |
hCV8821447 |
TATATAACTCCACAACCTTCTGCTCCAGGTACTCATTCAG[A/C]ACTGCATTAGAAATAGGATTCTGCATTTGCAAGCTGCTTT |
A |
A |
C___8821450_10 |
rs1544545 |
|
hypothetical
protein FLJ11577 |
FLJ11577 |
Intron |
X |
29948189 |
0.45 |
0.16 |
0.13 |
0.03 |
hCV8821450 |
TTATCCCCATTCAGACACACCCCAAGTCTCCCACTATTTA[A/T]CTTATTTTTCTTCATATTAAACAATCAACCCTAACAGAGT |
T |
T |
C___2649463_10 |
rs1074194 |
|
|
|
|
X |
29999797 |
0.44 |
0.14 |
0.14 |
0.08 |
hCV2649463 |
TGTGATTTAGTTATTTCTAATGGGAGATTTGGCAAATACT[T/G]AGGGCAGGGCCTTGTCTCCTTTCCCAGTGATGTAGTTTGG |
G |
G |
C___2649469_10 |
|
|
|
|
|
X |
30016960 |
0.5 |
0.41 |
0.29 |
0.24 |
hCV2649469 |
AGGATTCTGACTCTAAAAGACTGGTTAGAGTTTCCTCCTT[C/T]GTGATTCCCATAGCACTTATGCTTCCTTCTGTTTGGTCTT |
C |
C |
C__11603001_10 |
|
|
glycerol
kinase |
GK |
Intron |
X |
30053079 |
0.27 |
0.04 |
0.12 |
0.28 |
hCV11603001 |
TGGAACATTGAAAAAGTTCAGAGATAAGTTCACACATAAG[A/G]CTTGTGTGCCCTGGGGAGAAATAGGTAGTAAAGACATGTT |
G |
G |
C__11603002_10 |
|
|
glycerol
kinase |
GK |
Intron |
X |
30053488 |
0.23 |
0.13 |
0.14 |
0.28 |
hCV11603002 |
CATGTTGTAAAGTTGTCACACGCACAAAAAAATTACATTC[A/G]CAATATGTACCCATAGAGCTGCTGCAGAATTCCTTTATTT |
G |
G |
C____200162_10 |
|
|
glycerol
kinase |
GK |
Intron |
X |
30060593 |
0.34 |
0.32 |
0.14 |
0.29 |
hCV200162 |
AATCCTTTCTGGAGGAAGACAACATCATCTAGAGCCTCAA[A/G]TAATCTCTAGAATTTTTCATACGCATTATCTAGTTTTCTA |
A |
A |
C____200163_10 |
rs4636357 |
|
glycerol
kinase |
GK |
Intron |
X |
30061203 |
0.24 |
0.06 |
0.11 |
0.27 |
hCV200163 |
TAATCCCTAGGCAAGATAAATATACAGAAGACCATACTTA[T/C]GCTGGGATATGAAGATATAAAGTTTTGAAGTAGCTGAGGA |
T |
T |
C__16146665_10 |
rs2868571 |
|
glycerol
kinase |
GK |
Intron |
X |
30085394 |
0.26 |
0.15 |
0.48 |
0.49 |
hCV16146665 |
TGCTAATACTCATTAATTGCTTATTAAGTATACTCACTTA[A/C]GAATTCACTTTTATTAAGTACCTTCAGTCTTCTCATCAGT |
C |
A |
C___1861041_10 |
rs931240 |
|
glycerol
kinase |
GK |
Intron |
X |
30096375 |
0.26 |
0.22 |
0.15 |
0.3 |
hCV1861041 |
GCAGGGAATGAGCTGTGTTAGAGTCCCTTGTAAGGTATTT[G/C]TTGAATTGTTTTTGTCCCATTTTTAAAGCCTTGTCATATT |
C |
C |
C____911422_10 |
rs751541 |
|
|
|
|
X |
30159942 |
0.16 |
0.35 |
0.26 |
0.23 |
hCV911422 |
AGTATAAAGCTAGGATAAAATAATAAATGTGTCTGCGAAA[C/T]AGATTTGGGAGATAACAAAGTAGAATTAGTGTTTGGGGAC |
T |
T |
C__11407030_10 |
rs1905204 |
|
TAK1-binding
protein 3|hypothetical protein MGC45404 |
TAB3|MGC45404 |
Intron |
X |
30215951 |
0.11 |
0 |
0.23 |
0.17 |
hCV11407030 |
AAACTGCTTGGGGTAGGAGTCATGTTTTCCCTGTGTAACA[G/T]CAAGCATCTATCTACATAATTGAGCTACGCATTGAGCATT |
G |
G |
C___1861010_10 |
|
|
TAK1-binding
protein 3|hypothetical protein MGC45404 |
TAB3|MGC45404 |
Intron |
X |
30227402 |
0.2 |
0.24 |
0.18 |
0.31 |
hCV1861010 |
GGTATCAAAGTTTAAAATAAGTGATAAAAGGCAGAATAGC[T/C]ACAATTCCACAGAATGCTAGAGGAACAAAAAAAGTCGTTT |
C |
C |
C__16227722_10 |
rs2404154 |
|
ferritin,
heavy polypeptide-like 17 |
FTHL17 |
|
X |
30453876 |
0 |
0.11 |
0.09 |
0.13 |
hCV16227722 |
GATAAAGAGGACACATATATTGGACTCCACAAGCAAAAAT[T/G]CCTGTTCTCACATCACAGACAATGCTTGTGCTATTTATTA |
G |
G |
C___2654635_10 |
rs725979 |
|
|
|
|
X |
30464377 |
0.26 |
0.36 |
0.21 |
0.35 |
hCV2654635 |
GTCTAAAGTGAACTCAGCCTCCTCTAAAGATCTAAAGGGA[G/T]TAGTGCCCACACAACTAGCACGGCAATCAGTCATGGACTG |
T |
T |
C__16153357_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30549322 |
0.1 |
0.24 |
0.11 |
0.17 |
hCV16153357 |
|
#N/A |
#N/A |
C__11874650_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30552703 |
0.12 |
0.34 |
0.14 |
0.16 |
hCV11874650 |
CTCTTCTTTACAGCATATCATGTAAAATAAATACACAAAC[A/G]GAAAGCTGATGCTTTCATATTCTCCATATAATATAGTATC |
G |
G |
C__11874654_10 |
rs2178539 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30568470 |
0.02 |
0.07 |
0.21 |
0.27 |
hCV11874654 |
ACAGACAAAGAATTCTCAATATCTGGAATTTCTAGCAAAC[A/C]GATTTACCTATCAATATAATAAGTTTAAAAGGGCATTACA |
A |
A |
C____179019_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30579941 |
0.27 |
0.18 |
0.17 |
0.16 |
hCV179019 |
ACTAGGAATCAAACCCTTCCACCAGCTGAGGGACTTTAAG[G/A]GCGCAAATAAATTATTCATCCACTTAAACAATAATAAAAG |
A |
A |
C__11874409_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30595527 |
|
|
0.37 |
0.28 |
hCV11874409 |
GACTACTATTCATATGATTTTAGCCTAGTCACATTTTTGT[A/G]TCTCATGTGTATTTCCCATTAAAGCTGCTATTTCTCAATG |
A |
A |
C____358960_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30614220 |
0.06 |
0.03 |
0.08 |
0.15 |
hCV358960 |
CAAAAAGATTATTCACCCTGTAAAAAATCAGTACACGTAT[G/C]CCAGGTATTTGTGATGTGTCAAGCAACACACACATACAAA |
G |
G |
C____299335_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30622363 |
0.41 |
0.41 |
0.36 |
0.41 |
hCV299335 |
AGACATCTAAAGTAACCTTGAAAAGCAAAATGGGTATACG[T/C]TGGCATTAATAAACGATACCACTAGCAATAAGAGAAGATA |
C |
C |
C__11874407_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30638577 |
0.3 |
0.35 |
0.41 |
0.47 |
hCV11874407 |
AAAAATATATGTATAGAAAGACATTTTTGAAGATCCTAGA[C/T]TATTAAACACCAGCTAACTCTAAGAAGTGGGGTTACGAAT |
C |
T |
C__11874759_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30674308 |
0.13 |
0.01 |
0.1 |
0.3 |
hCV11874759 |
AGTTTTGGGAGAAGGAGATCCATTCCCTTAAATGATAATG[A/G]CAGAAATGACCACTAAAGGAAGGCAAGAAGTATCTGGTTT |
A |
A |
C__15837173_10 |
rs2178537 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30689253 |
|
|
0.1 |
0.29 |
hCV15837173 |
GAACATTATTTCCCTGGGGAACCTGAAATAATCACACATG[C/T]GTTTCCAAAACATCCATGTTATTTCCCATTATGATGTGCT |
T |
T |
C__11179269_10 |
rs2404682 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30737907 |
0.19 |
0.19 |
0.31 |
0.25 |
hCV11179269 |
TGAATTTCTAGGTCATCATGGAAGTAGGTACACTTCCCTG[A/G]GCGATAATCTGAGGTACTTTATAAGCTTCTTTCTTTCACG |
G |
G |
C__16271655_10 |
rs2704908 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30769256 |
0.49 |
0.15 |
0.35 |
0.3 |
hCV16271655 |
AAGGTGCTTTGTGAAATGTAAAGAATTATATACATGAAAC[C/A]TGATCTTAGGATATTCAAGAAAATTGACCATAGAAATGCA |
C |
C |
C____457324_10 |
rs2704910 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30785521 |
|
|
0.44 |
0.43 |
hCV457324 |
GTTTTATACCTAGAAAAGACTTAATAGCTAGACGTTGTCA[A/C]AAATTACTACACTAACAAACAGTGCATGAATTTCAGCTTT |
C |
C |
C__11615718_10 |
rs1112432 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30822147 |
|
|
0.21 |
0.39 |
hCV11615718 |
CTTACTAGTCATAATCCTTTGACCTCATTTGGAAATCTAC[C/A]TGCCACTGTCACAAATCTTTTACCACGTTCTGAAAGCAAA |
A |
A |
C__11615720_10 |
rs1800280 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Mis-sense
Mutation|Silent Mutation |
X |
30857776 |
0.1 |
0 |
0.12 |
0.05 |
hCV11615720 |
CAGCTTGAGGTCCAGCTCATCCGTGGCCTCTTGAAGTTCC[C/T]GGAGTCTTTCAAGGGTCTCATCTATTTTTCTCTGCCAGTC |
C |
C |
C__16228580_10 |
rs2404685 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30885742 |
0.12 |
0.23 |
0.18 |
0.36 |
hCV16228580 |
CATACTTGATGCAGACATTTACAATAGTGCTTCTGAATTA[C/A]TAAAAATGCAGATTTTCCTCCTTATAGAAGTATATATGTT |
A |
A |
C____217007_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30918396 |
0.02 |
0.19 |
0.18 |
0.22 |
hCV217007 |
TGGAAGCAGAGGGCCATGAACAGCTGTGCAAGTTGTACAC[C/T]GAGAAAAACAAAGAAGTACCATTCACATCATGAGTTGTAT |
T |
T |
C____297988_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30936968 |
0.12 |
0.1 |
0.07 |
0.17 |
hCV297988 |
CATCATTATTAAACTGATCATGAGGTTTCCCAGGGCAACA[C/T]TGGAAACAGAGTCATCTCCAGTCTGGGTATACAGACTTAT |
C |
C |
C____189866_10 |
rs1921960 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30958695 |
0.21 |
0.4 |
0.33 |
0.49 |
hCV189866 |
CTGAGGAACACTGCAGAGAAGTTTGGGCTTTCTTACAGAA[C/A]AGACTGACTGTATAGCTTAGCTGAGGGAGATCTGGAGACC |
A |
A |
C___8822304_10 |
rs1497445 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
30983095 |
0.2 |
0.27 |
0.18 |
0.25 |
hCV8822304 |
TGAACCCACTAGGTCGTATTTCCAGGTTTTCAAGCAGACT[A/G]TTCTGGTTTGCAATATTTGAAAAGAGTCTGCTGTGGTATG |
A |
A |
C___8822327_10 |
rs1039159 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31009267 |
0.25 |
0.43 |
0.36 |
0.48 |
hCV8822327 |
TATCATGCTTGAAAAATTCAGAACCACTGCAACAACTCCA[A/C]GAATCTCAATGCTACAATTGGGCATACACCTTACAGTTTG |
A |
C |
C____324156_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31042796 |
0.16 |
0.11 |
0.23 |
0.48 |
hCV324156 |
GCTCCCTCTGTAATTCCATTACCTGCTGTGCAGACCTTAC[A/G]TTGGGTGAATTAGCACCCGATGGTTCTGGTTTCTGGGCTT |
G |
G |
C____321003_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31052405 |
0.29 |
0.41 |
0.4 |
0.42 |
hCV321003 |
GCCAAAATCCCCTATGGACACCTCATTCTCCAGAGCTTCA[T/C]TGGAAGTTTTTCTCCAGACCTATGTTTATCTCAACTAGCA |
T |
C |
C__16050869_10 |
rs2646299 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31116224 |
0.24 |
0.19 |
0.5 |
0.44 |
hCV16050869 |
TTTTTTCAAGGAACTTATAATCTAGCAAACAAATACTCAT[A/G]AACAATTATTTTTTGTGTAATAATACAATGGGAAGTAATG |
A |
G |
C____904093_10 |
rs741935 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31125513 |
|
|
0.32 |
0.36 |
hCV904093 |
TGAATATAACTTTTCAATGCCCTTAATACGTATTGCTGCA[C/T]TAGACCTGATATTTTTCTTTGGGAAATAAGTCTTCAGGTA |
C |
C |
C___8822353_10 |
rs1458378 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31174065 |
0.2 |
0.12 |
0.31 |
0.3 |
hCV8822353 |
CGATTAAATTATTAAGAACCTCTGATCTAGCTATTTCATA[T/G]TTTAGATGTGAGTGAAGATGTTTTGAAATCATTTTCATTG |
G |
G |
C___1671050_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31202873 |
0.14 |
0 |
0.25 |
0.2 |
hCV1671050 |
CAGTCAGACTATGTGCCCTTCGCAAGGCAGGACTGAGTCC[G/T]CTATGCCTTGTACGATGTTTTCTTTATATCCAGTCTAGTG |
G |
G |
C___8822680_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31210756 |
0.34 |
0.15 |
0.16 |
0.08 |
hCV8822680 |
TGCTTGTAATCTTGGCCAGAGGGCTTTCAGAGTATTATGT[G/A]GGGATTCAAACAATGCCATATTACAAATAACTTAGCAAGG |
A |
A |
C___8822690_1_ |
rs1379871 |
IMS-JST063383 |
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31216208 |
0.27 |
0.44 |
0.38 |
0.24 |
hCV8822690 |
GATTATAAATAGTCCACGTCAATGGCAAATGTACAACAGG[G/C]GAAGCATAACCCATTATGAGGTAATGGATATTGCTAGAGG |
G |
G |
C___1671040_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31228270 |
0.3 |
0.09 |
0.22 |
0.17 |
hCV1671040 |
TAGGTAATAGGGAGTAATGGTTCAATAACAGTAGGAGAAT[T/A]TCATGGTCTCTTCTGAAATCCAGCCCTGATAGGTTTTTGA |
T |
T |
C___1671019_10 |
rs1458376 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31279197 |
|
|
0.26 |
0.19 |
hCV1671019 |
GCCTGCAAAATTTTTTTTATTAATTTAAAATAGGACGATA[A/T]ACATTCCATACAGCGATTATTTATTTTCTTAACCATAACA |
A |
A |
C___1671057_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31293501 |
0 |
0.33 |
0.06 |
0.1 |
hCV1671057 |
ATTATCTAAAAACAACCATTGCCTCCACTTCTGGACTGCG[C/T]CAGATCCACCCGTTTTATGCTCTCTTGCTTTCCTTGTTTG |
C |
C |
C___2532357_10 |
rs999328 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31406034 |
0.36 |
0.45 |
0.36 |
0.39 |
hCV2532357 |
ATTTGGAAATTAAAAGAAAGAAACTGTTATATATCAGTGT[C/T]ACTAAACCCTGAAGACAAAAACATATATAGAGAATTGAAA |
T |
T |
C__12113694_10 |
rs1921379 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31451767 |
|
|
0.18 |
0.36 |
hCV12113694 |
GGGTGCTGATATACGTGCCACGATATGTAATATTAAAAAC[T/C]CTTTGCTCTCCAATGACATTCTTATCATTTGAAGTCATTT |
T |
T |
C___1639554_10 |
rs768273 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31615783 |
0.08 |
0 |
0.44 |
0.44 |
hCV1639554 |
GAATGCCAATTAGACTGACAACTTACCGTTCAACAGAAAA[C/T]ATGGAAGCCTGAGAACAATCATGCTATCTTCAATGTGATT |
T |
C |
C___1639555_10 |
rs331359 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31621799 |
0.27 |
0.18 |
0.47 |
0.45 |
hCV1639555 |
CTCTGGAGATTCCACAGATCTGCAGGCCTAGTAACAAAAA[T/G]AGAAGTTCAACTAACCAATCAACCAACAAGGATCACTCTG |
G |
T |
C___1639556_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31629395 |
0.37 |
0.29 |
0.37 |
0.47 |
hCV1639556 |
GGAGACCTAAATATTTTGGAATAGGAGCCAGGATAACCTG[T/C]CCTCAGAGATGCTTCCTTGGCTGCATCACCTAGCCATAAG |
C |
C |
C___1639564_10 |
rs1456726 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31639527 |
0.14 |
0.3 |
0.47 |
0.47 |
hCV1639564 |
GAAAATGTAGCATCTGAGCAGGGCATGGAAGGATCATTTA[A/G]TGGATATTCCTCTGTCCCAAAATTTTTTGTCTGTCCAATA |
A |
A |
C___1639565_10 |
rs1456727 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31639661 |
0.14 |
0.05 |
0.14 |
0.14 |
hCV1639565 |
CATTATGTTTCTCATGTTCCCTTGAGGTTTCGTGAGTGCA[A/G]TTGTGATTGAATCCTGGAAAGTGGGAAAGTGTAGGAAGTG |
G |
G |
C____787898_10 |
rs331352 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31643147 |
0.5 |
0.26 |
0.44 |
0.49 |
hCV787898 |
TGTAGCAGGTTTCACTTTTCAATAAACGAAATAGCCGTGA[C/T]AATTCTGTCTTTAGGATGAAGAGAGAGCATTTTCCATGAA |
C |
C |
C___1639572_10 |
rs1160300 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31664637 |
|
|
0.05 |
0.06 |
hCV1639572 |
AATACCTGGATCATTTGCCAAAAATTACTCATGAGTAAAG[C/T]GGAGGAGAAACCTCAAAAAGCAGAAAGCGTTATTTCTACT |
A |
A |
C___1639577_10 |
rs331328 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31674864 |
0.27 |
0.17 |
0.27 |
0.48 |
hCV1639577 |
GATTCACAGTCTCCAATAAGTTAAAGAAGACCCTGATTAT[G/A]CACTGTGAATAGAGAAAAATTAGATAGCACAGTAACTTTT |
A |
A |
C____787930_10 |
rs331320 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31680397 |
0.38 |
0.27 |
0.43 |
0.5 |
hCV787930 |
AATTCCAAAGCAATACAACAATCCAAGAAAACCTCAAAAA[T/C]TGATGATCACCAATGAATGGAATATGCTTTTTTAAAATTC |
T |
C |
C___3049055_10 |
rs1325576 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31704169 |
0.31 |
0.29 |
0.32 |
0.43 |
hCV3049055 |
TCCCAAAGCACAGTAGTCATTAATTGCTATGCCCCAAACA[A/T]TTGGGTGCATTCTACATAAGGTAAAAATTACTAGAAATAA |
A |
A |
C___3049056_10 |
rs3788899 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31706992 |
0.41 |
0.23 |
0.33 |
0.48 |
hCV3049056 |
AAATGATATCCATCTGACCTCTGAATAAATAAAGTGCCAC[G/T]GTGTGTATAGAAATGGTTATATTTAATATTATTTTCCCAA |
T |
T |
C___3049063_10 |
rs331310 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31727253 |
0.39 |
0.2 |
0.33 |
0.45 |
hCV3049063 |
TAAAGGTTAAGAATGCCACAGAGGTGATGGCAGTGAAAGA[G/A]GGGAAAAAATTGTGAAAAGGAGGATGAAGAGAGAAAAAAA |
G |
G |
C__11615942_10 |
rs2038354 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31754984 |
0.47 |
0.35 |
0.23 |
0.32 |
hCV11615942 |
CAATAATACTCACGAAGTGGGTGTTCCTTAATTACTAAGC[T/G]TTATCTTACAGAACCTGGCTAGTGGAGTTTCCAAAAGGAA |
G |
G |
C___2524251_10 |
rs1555255 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31767173 |
0.24 |
0.11 |
0.21 |
0.24 |
hCV2524251 |
AATGCTACATGTATATTTCCATATTAATCCTCTTTGACAA[A/C]TGATGTTAACATTCCTTCATCACTAATAATTATGACTTTT |
A |
A |
C___2458608_10 |
rs3788905 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31801238 |
0.16 |
0.32 |
0.07 |
0.16 |
hCV2458608 |
GTTCCAAACTTCCTCTCTTCTCTATGTCCTCACCCCACAA[C/T]GGCATCTTCTCATCGTCTATAGATGAAACCCATCGTGCTG |
C |
C |
C___2458620_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31843289 |
0.3 |
0.26 |
0.23 |
0.2 |
hCV2458620 |
TTGTCTTTTAAAATCTGAGATACAGAGATATTGATATAGA[T/C]GACTGCCTAACAGTCTTGCAAAAATGTTCAATGGTTATTA |
T |
T |
C___2458621_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31843482 |
0.33 |
0.49 |
0.21 |
0.14 |
hCV2458621 |
TATTATCTTTGTTAGTATTTTCATTTTCAAACACAGGATA[T/C]TGCAGAAATTGTTTACAGTGTAATGGGTGTGAAGGTTATT |
C |
C |
C___2219013_10 |
rs170604 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31893841 |
0.16 |
0.17 |
0.19 |
0.22 |
hCV2219013 |
CTATGAGCACAAATACCCACAATTTGAGAAATATTATTTC[G/A]ACTAAAGTAGGAGATGAAATCATTTACTGTGAATGATGGG |
A |
A |
C___2219018_10 |
rs228332 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31896779 |
0.16 |
0.1 |
0.14 |
0.2 |
hCV2219018 |
ATGGATAAAATTACTTTTCATTCATAATCACTGCTTCCTT[A/G]GCTTGCCCATTTTATTTACTCTGCCTGTTAGAAATTATTT |
G |
G |
C___2219039_10 |
rs228355 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31917231 |
0.45 |
0.1 |
0 |
0.09 |
hCV2219039 |
GAGAGGGTAAAGGAAAGAATCAGGAGTCCGTAAGGGAATA[C/G]AGATAGTTCAGGTCTTCTGATTAAAAACTGACTTTTATTT |
C |
C |
C___2219055_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31924914 |
0.47 |
0.22 |
0 |
0.08 |
hCV2219055 |
AAATCTGTGAGAAGTATTGAAACAGAGGTCAGACATTGCT[A/C]GAAAGACTTCAGTAAAGACTGCTTGGAGTGGCAAAGGAAA |
A |
A |
C___8885936_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31936959 |
0.05 |
0.23 |
0.14 |
0.16 |
hCV8885936 |
AGGAAGAATTACTCAATGTTAAATATGTTTGGCTCTTGAC[A/G]TGCTATATTGAAATCTGTGCAAAATTAGTCAAAATACACT |
G |
G |
C___2562270_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31942005 |
0.33 |
0.45 |
0.5 |
0.48 |
hCV2562270 |
GCAATCATACGCGCAAGCAGTGTTCTTTATATGAGTACAA[C/T]TGGGTGCCTTGTCATCTCAATCACGATTTCCACACCCTGC |
C |
T |
C___2562253_10 |
rs808558 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31966856 |
0.42 |
0.04 |
0.44 |
0.39 |
hCV2562253 |
TATAGCACATTCCCTTTGTAACCTGTGTGATACTCATGTT[A/T]CACAAGTTAAAACTATTAACGACACTAACAGCAATGTCCA |
A |
A |
C___2562225_10 |
rs808513 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
31994282 |
0.48 |
0.03 |
0.26 |
0.39 |
hCV2562225 |
CTAACTGAAGTGCAAAGCATCTGATAATTGACTAAGTAGT[A/G]TATTTTGGCAGTTGTTCGTTTACATTCTCATTATTTAGTA |
A |
A |
C___8886339_10 |
rs995880 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
32143103 |
0.34 |
0.24 |
0.17 |
0.43 |
hCV8886339 |
AATTACTACTAGACTAATACTTGTCAGTACAGTAACAACT[C/G]ATCATGCTCTAAACACCACTAAGGGAGAAAAGTGATGAAT |
G |
G |
C___8886346_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
32188891 |
0.45 |
0.24 |
0.12 |
0.27 |
hCV8886346 |
GAGAACTAGAATTAAATAAGACAATTCATAATATAGTGCA[A/G]GAAGGCTGAACATTTTAAATATATCTACAGTATTGGAAAA |
G |
G |
C___1088314_10 |
rs730522 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
32246672 |
0.36 |
0.32 |
0.25 |
0.06 |
hCV1088314 |
GTTGTAGCCACTGTATTGTAAATGCAACTAAGGTTGTATT[T/C]CTTGCCCAATATGTTCATTTGACGTTCAATTGGAGAAGTT |
T |
T |
C__11179156_10 |
|
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
32406284 |
0.41 |
0.41 |
0.48 |
0.31 |
hCV11179156 |
AGGTCTAAAATAATTAAACTTCTGCACGAAGAACAGAAAA[G/A]CTGTTCATGTCAAAGATATTTCTTTATTTCCCATTCGCTT |
G |
A |
C___1294963_10 |
rs2814862 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
32423495 |
0.27 |
0.26 |
0.37 |
0.27 |
hCV1294963 |
TATATATTAGGCTCAACTTTTCAGTCGGTGATGAGAGACA[A/C]ATGGCCTGCCATCCCTGCCCTCTCTCACCTACCCCAGTTA |
A |
A |
C___8528156_10 |
rs2765391 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
32430289 |
0.46 |
0.36 |
0.28 |
0.31 |
hCV8528156 |
TGATTAGAATGGAAAAGTGTTAAGCCATCAAAAACAAGAC[A/G]CAGCTATAAGGAAAGAGGAAATATAAGGCTAATGAATTTT |
G |
G |
C__16161483_10 |
rs2206377 |
|
dystrophin
(muscular dystrophy, Duchenne and Becker types) |
DMD |
Intron |
X |
32586136 |
0.16 |
0.38 |
0.16 |
0.11 |
hCV16161483 |
ATCCAGACTACTAAGAACATTGGTTTTCTCAGGGCTTACT[A/G]TCATTACATATACTACGCAAAGTCACCTTCAGAGGTTGTA |
A |
A |
C__11782558_10 |
|
|
transmembrane
4 superfamily member 10|brain cell membrane protein 1 |
TM4SF10|BCMP1 |
|
X |
33999260 |
0.3 |
0.46 |
0.25 |
0.46 |
hCV11782558 |
GCAAAGACAGCTTCTGAGTCGATCTTCATTATGAAAATGT[T/C]TTGGCCTTGCCAGGATTTGATATTATGGAAGAGTGCTTGG |
C |
C |
C____301303_10 |
|
|
transmembrane
4 superfamily member 10|brain cell membrane protein 1 |
TM4SF10|BCMP1 |
Intron |
X |
34016203 |
0.24 |
0.24 |
0.25 |
0.48 |
hCV301303 |
CATATATTACCTATCACTGTCAGTTACACAAAAAGAAATA[T/C]GCTGTAGTCAACTGTACTGGAAATGTGCACAACTTTCATT |
T |
T |
C_____70034_10 |
|
|
proline-rich
Gla (G-carboxyglutamic acid) polypeptide 1 |
PRRG1 |
Intron |
X |
36307225 |
0.11 |
0.49 |
0.09 |
0.15 |
hCV70034 |
GGTAGGTTTCCTGGAAAAAGTGTGGATAATATGCCAGAAA[C/T]GGATTTCTATGAGAGATGACAAAAGAGGTAAAGTGTGTCT |
C |
C |
C___2531322_10 |
|
|
proline-rich
Gla (G-carboxyglutamic acid) polypeptide 1 |
PRRG1 |
|
X |
36356591 |
|
|
0.09 |
0.15 |
hCV2531322 |
CAGGTGGCAGAGGAAGGGGCAGAGGACCAGGATGATTATT[T/C]GGGGGATTCAAGGTGCTGATCAGCACCTTGTCCTCTACAT |
C |
C |
C___2531371_10 |
|
|
Kell
blood group precursor (McLeod phenotype)|FLJ42925 protein |
XK|FLJ42925 |
|
X |
36573667 |
0.23 |
0.25 |
0.07 |
0 |
hCV2531371 |
AAGCCTTTCATTTTGTGTCCGAGTCTTTCAAAATTTTACT[C/T]GTATACAACAGATAAGTGCTGTTTGATTTAGTGCTAATGG |
G |
G |
C__16190020_10 |
rs2295447 |
|
Kell
blood group precursor (McLeod phenotype) |
XK |
Intron |
X |
36586828 |
0.22 |
0.35 |
0.07 |
0 |
hCV16190020 |
AGAAAAATAAACTCTAGGTTAACTTTACAGTTAGGTGTTT[G/C]TTCCTTGCACCAAATGCATTTCTAACCACATGACAGACAC |
C |
C |
C___7625373_10 |
rs12849 |
|
t-complex-associated-testis-expressed
1-like |
TCTE1L |
UTR
3 |
X |
36729323 |
0.24 |
0.27 |
0.09 |
0 |
hCV7625373 |
TAAGCTTAGCGTTAATATTGACAATATTAAGGCAATATTC[A/T]TGTAGGAATACTATGTGCATGTTTGATATTTTGCCAAATA |
T |
T |
C__11616150_10 |
rs2024916 |
|
synaptotagmin-like
5 |
SYTL5 |
Intron |
X |
36951576 |
0.26 |
0.43 |
0.02 |
0.08 |
hCV11616150 |
TATAGAGACAGCTCAGTGGGGCTGCAATATTCTCTCACAA[T/C]AAACAAAGAGTGTTTGCTGCCAATAAAATATTATTTATGC |
G |
G |
C__11616146_10 |
rs2024917 |
|
synaptotagmin-like
5 |
SYTL5 |
Intron |
X |
36951863 |
0.25 |
0.41 |
0.02 |
0.06 |
hCV11616146 |
TATAGAGTTTAAAAACTAGGCTTACAATAGCCAACTTGTT[G/A]GAATCAGAAGGGATTGGAGAAAATGTCAGGGCCTGCTCAG |
T |
T |
C__16074880_10 |
rs2144995 |
|
synaptotagmin-like
5 |
SYTL5 |
Intron |
X |
36959998 |
|
|
0 |
0.08 |
hCV16074880 |
TACATTTCAAGTGATCTATAGACTTATGTATCACAGTGTT[T/G]GAAATCCAGGTGACAATTGTGGTATTCTAAATTCGAAAGA |
A |
A |
C___7625466_10 |
rs927074 |
|
synaptotagmin-like
5 |
SYTL5 |
Intron |
X |
36970641 |
|
|
0.02 |
0.09 |
hCV7625466 |
CTTGTGAAGCTTCACAGAGACTGTGACCATCAGTCCCAGA[C/T]CCACTGGAGAGCAATTAGGAATAACTGGATGAAACTGGTG |
G |
G |
C___2190951_10 |
|
|
sushi-repeat-containing
protein, X-linked |
SRPX |
Intron |
X |
37046719 |
0.3 |
0.03 |
0.12 |
0.2 |
hCV2190951 |
CAAACCTGTCCAGGATATGCCTGGCTGGAAGCAATCAATT[A/G]GTTGCCTGCCCACATTTTTCCCCAGGGAATTTCTTTGACT |
T |
T |
C___2190955_1_ |
rs2268790 |
IMS-JST022742 |
sushi-repeat-containing
protein, X-linked |
SRPX |
Intron |
X |
37053158 |
0.45 |
0.43 |
0.16 |
0.23 |
hCV2190955 |
TCTTCAGGGTCTAGCACAATGTCTGGCCCAGCCCCAGCAC[G/A]TAGTAGGTTTTTAGATTTTTGCAGCTCTGACTGCTGTTGA |
T |
T |
C___2798574_10 |
|
|
sushi-repeat-containing
protein, X-linked |
SRPX |
Intron |
X |
37067835 |
0.49 |
0.33 |
0.16 |
0.2 |
hCV2798574 |
ACAAGAACCTTCTGTCCAGACTCAGGTAAGTATGTCCACA[G/A]ATATTTCTACTGGTGAAACATTTCTCTGAAGCTTAGGGAA |
T |
T |
C__12114289_10 |
rs1885445 |
|
sushi-repeat-containing
protein, X-linked |
SRPX |
Intron |
X |
37085812 |
0.47 |
0.24 |
0.37 |
0.29 |
hCV12114289 |
GAGTTTTCATTGGGACTCTCTCAGTACTTGAGGCTGGCGT[A/G]TGCATCAGATTGTCTTCCAAGAGTATTTCCAGATCTAAGA |
C |
C |
C___2198088_10 |
rs2235125 |
|
ornithine
carbamoyltransferase |
OTC |
Intron |
X |
37293709 |
0.42 |
0.35 |
0.37 |
0.23 |
hCV2198088 |
GATGAAATCCAGGCGTAAATTCGCTTATGTGTAGCAATTA[C/T]TAAGGTTAAAATAAATAGTCTTAATCTCAGTATTAGTGCC |
G |
G |
C___2198094_10 |
rs991916 |
|
ornithine
carbamoyltransferase |
OTC |
|
X |
37311802 |
0.28 |
0.3 |
0.04 |
0.07 |
hCV2198094 |
TCCCCACTACCACATTCTCACAAGTTATTGGAAAAAACTT[C/T]GGAGTTTGGGCACAGTAATAGCTATATTTTAAGAATTTCG |
G |
G |
C___2198095_10 |
rs991917 |
|
ornithine
carbamoyltransferase |
OTC |
|
X |
37311927 |
|
|
0.37 |
0.24 |
hCV2198095 |
AGAATTTGAACCTAAGAAAATGCTACTCTAGGTATCCATG[G/C]TTTTACCACTTGCTAACAAAAGCTTCTTATGGCTTGTAAC |
G |
G |
C___2198101_10 |
|
|
|
|
|
X |
37325357 |
|
|
0.33 |
0.29 |
hCV2198101 |
ATGGCTTCCCAAAAAGCTCTGATTCCCATCACAGAAAAAA[A/G]TACTAATATACACATAAAATGCTGTGTATAATTTTATGCA |
T |
T |
C___2198126_10 |
|
|
|
|
|
X |
37380820 |
0.08 |
0.23 |
0.29 |
0.16 |
hCV2198126 |
TCAGTTTTTCGGTTGCCAGGGATATTTTGACTTTTAAGTA[C/G]TTGTGTGAAGCTATTTAAAAAAATCAATATGTGGTTCCAA |
G |
G |
C___7620994_10 |
|
|
transmembrane
4 superfamily member 2 |
TM4SF2 |
|
X |
37450031 |
0.08 |
0.27 |
0.29 |
0.25 |
hCV7620994 |
GAGTGAAAAACAGAGTCAATAAGGCTTGGGAAAAGCCTGC[T/C]AAGGTCAGTTGTTACAGGAGTAATTATTACCTCTATCCAG |
G |
G |
C___3269672_10 |
|
|
transmembrane
4 superfamily member 2 |
TM4SF2 |
Intron |
X |
37469915 |
0.1 |
0.27 |
0.33 |
0.25 |
hCV3269672 |
GCCAAAATCTACTATCTAGTAGGTGTAGTAGTAGATACAC[T/A]ATTTAGTTAGTAGATACACAGAAAATTATCATATCGTTCT |
A |
A |
C___1465609_10 |
rs963481 |
|
transmembrane
4 superfamily member 2 |
TM4SF2 |
Intron |
X |
37515879 |
0.4 |
0.49 |
0.34 |
0.38 |
hCV1465609 |
CCTTCCCAATTCTCAAAATCAAAGATGTGTCCTGTTCAAA[T/A]CTAATGCTTTCACCTGTGCTCTGGATCTCATCTCCTGGGA |
T |
T |
C__11179761_10 |
rs1980423 |
|
transmembrane
4 superfamily member 2 |
TM4SF2 |
Intron |
X |
37531409 |
0.33 |
0.23 |
0.33 |
0.39 |
hCV11179761 |
TCAACTACAAACACACACCTGGAAGAGAAAACCTTCACTT[G/A]TGAAAGTTCAAAGCCTCTCTTCAGAACTGCAGACAGTAGA |
C |
C |
C___7620962_10 |
rs10333 |
|
transmembrane
4 superfamily member 2 |
TM4SF2 |
UTR
3 |
X |
37578763 |
0.39 |
0.23 |
0.22 |
0.17 |
hCV7620962 |
CAACAACACAGCTTTGTAACAGGGTTATACAGGTTTCAAC[C/T]GAGAGGCAAAGATGCACTAAACTGCCTACACATACCCAGG |
G |
G |
C____558220_10 |
rs755151 |
|
|
|
|
X |
38414672 |
0.31 |
0.39 |
0.14 |
0.13 |
hCV558220 |
TCTAAATTTTTTAGAAAATTCGTCCAACTAGAGCCCTTGG[G/A]CCCTTTAGGTTTGTTCTCTTATCACCATAAATGACCTCTT |
C |
C |
C___2349605_10 |
rs206029 |
|
|
|
|
X |
38559080 |
0.34 |
0.26 |
0.43 |
0.41 |
hCV2349605 |
GGGGAGCATAAACTCCCAGGCACTTCCAGCTCCGCACAAA[C/G]TGGGTAAAGTGGCTCTAGAAGCCCCAAGCCAGCTGGCTAA |
G |
G |
C__11616694_10 |
rs1866933 |
|
|
|
|
X |
38611756 |
0.35 |
0.42 |
0.48 |
0.5 |
hCV11616694 |
GATGTGCATGGGATGCCTATCAGATGGTCTGGAGACTTTT[C/T]GGAAACTTTGTCAAAGATGGAAGCCCCAGAAAAGGGCAGG |
A |
A |
C___2766198_10 |
rs1372261 |
|
|
|
|
X |
38617839 |
0.35 |
0.46 |
0.48 |
0.49 |
hCV2766198 |
CTGTAACTTGTACAATTTACAAGGAAATCAGATCTGTTTT[A/C]TCCATCCTTTGGAACCATCAAAAGACCGACGGTGCATTCA |
G |
G |
C___2766199_10 |
rs763382 |
|
|
|
|
X |
38617975 |
0.34 |
0.29 |
0.47 |
0.48 |
hCV2766199 |
CAGATTCCCACCCGGGCACCGAGAATGTCATCTGGCAATG[T/A]GATGTACAAGACCTTGGCTGCCACTTTATAGTTTCACGAA |
T |
T |
C__11874905_10 |
rs3002411 |
|
|
|
|
X |
38758341 |
0.45 |
0.36 |
0.28 |
0.36 |
hCV11874905 |
CAGGATGCCATGGTGAGGGGGTCTCTCCTACCCCCACCCC[T/C]GGTTATCCCATAGCTGACACCTTAACTGCAGGGGCTTCAC |
A |
A |
C__25654193_10 |
|
|
BCL6
co-repressor |
BCOR |
Intron |
X |
38965396 |
|
|
0.31 |
0.4 |
hCV25654193 |
AAGGCTGATGGCATGTTGAACTAGTTGGCAGTGTCTTTGG[A/G]TGCTGCTGCCTTGAAGGAGTATCCCAGTAACACCCATGTT |
C |
C |
C__11875495_10 |
|
|
BCL6
co-repressor |
BCOR |
Intron |
X |
38969133 |
|
|
0.29 |
0.38 |
hCV11875495 |
GATATGGGCTGAAGCGCAGTCAAAAGAAACGGCTCAACCT[C/G]CAAAGAGCAATTAAAATCCTGCACGAGGATAAATCACGCG |
G |
G |
C____289328_10 |
|
|
BCL6
co-repressor |
BCOR |
Intron |
X |
38976533 |
|
|
0.45 |
0.43 |
hCV289328 |
GGCCAGGATCCGTTGAACTGGGTCCTCAGCTGTTTATGGC[A/T]GAGTTTTTAAGATTTGTGAAAATAACTTTCAGCCCTAAGT |
A |
T |
C____382652_10 |
|
|
cofactor
required for Sp1 transcriptional activation, subunit 2, 150kDa |
CRSP2 |
Intron |
X |
39568676 |
|
|
0.04 |
0.05 |
hCV382652 |
AGTAAGCTTGGTTGCAGCAGCGCTTACATATTCATAACTG[T/C]ACAAATGCTGAAAAATAATCTAATCAAAATTGCTACCTAA |
A |
A |
C___8720113_10 |
rs887496 |
|
ubiquitin
specific protease 9, X-linked (fat facets-like, Drosophila) |
USP9X |
Intron |
X |
40030622 |
0.35 |
0.38 |
0.24 |
0.34 |
hCV8720113 |
GTAAGTATAGATTAAATCACTGGGGCATAGTTCTGTCTGT[C/T]TGTACCAATGTAAGTGGTGAACAGGAATTAGAAGACATGC |
G |
G |
C___2658500_1_ |
rs1978255 |
IMS-JST058722 |
ubiquitin
specific protease 9, X-linked (fat facets-like, Drosophila) |
USP9X |
Intron |
X |
40038878 |
0.14 |
0.12 |
0.19 |
0.24 |
hCV2658500 |
CCTAAGGAAAGCAGACTAATGAACAAAAAAAGTCAACTCC[G/A]GAAGATCATTTAAAAACTAACAATGTCAGAGTAACAGAAC |
T |
T |
C__11181494_10 |
|
|
ubiquitin
specific protease 9, X-linked (fat facets-like, Drosophila) |
USP9X |
Intron |
X |
40062964 |
0.03 |
0.11 |
0.19 |
0.24 |
hCV11181494 |
CTAGGATTCTATACACAAACCATTAATCAAACGTGATAGT[C/T]TGCCCACATTCAGATAAAAAATATCTCAAAAAAAAGTATG |
G |
G |
C__11181464_1_ |
rs2239491 |
IMS-JST010647 |
ubiquitin
specific protease 9, X-linked (fat facets-like, Drosophila) |
USP9X |
Intron |
X |
40122129 |
0.03 |
0.13 |
0.2 |
0.24 |
hCV11181464 |
ATATATAGGAGCAGTAACCCTGAACTCACAATAATGCTGA[T/C]TAAAAACAGAACAATGTTCAAGATGATAAAGTAACCAGGC |
G |
G |
C___8791216_10 |
rs870208 |
|
DEAD
(Asp-Glu-Ala-Asp) box polypeptide 3, X-linked|DEAD/H (Asp-Glu-Ala-Asp/His)
box polypeptide 3 |
DDX3X|DDX3 |
Intron |
X |
40253160 |
0.31 |
0.14 |
0.38 |
0.37 |
hCV8791216 |
CTTGCCCATGAATAGAGAGCATTTTACTTTTAGAAAGTAA[A/G]AGTGCTTTCATGTTAGATCCTTTCAAGGCAGGAAGACAGC |
C |
C |
C__11181267_10 |
rs2807188 |
|
nyctalopin |
NYX |
|
X |
40334832 |
|
|
0.37 |
0.44 |
hCV11181267 |
CCGATTAATTAAGACAGCCGGCGACTACTGGAGGCTTTGC[C/T]TGCTATCTGGAGGACACAGATTTGCCCTCCAGCCTTTCTG |
A |
A |
C__11181262_10 |
rs2859021 |
|
nyctalopin |
NYX |
Intron |
X |
40346609 |
0.24 |
0.49 |
0.35 |
0.4 |
hCV11181262 |
GTCCCTAAGTAAACTCCTTCTTGCCTTCAATGACCTAGAG[T/A]AGATGCTTTGCAACAAGAGTCCTGAGCAATATCCTGAATC |
A |
A |
C_____51897_10 |
|
|
calcium/calmodulin-dependent
serine protein kinase (MAGUK family) |
CASK |
Intron |
X |
40421651 |
0.48 |
0.46 |
0.09 |
0.16 |
hCV51897 |
ACGTCTTCCTCCTGTGGTGGTTCATGAAGGGATAAAATAC[A/C]TCTCACCTGAACACTGAAAGTTTCACCAAACCAGACAATT |
T |
T |
C____299099_10 |
|
|
calcium/calmodulin-dependent
serine protein kinase (MAGUK family) |
CASK |
Intron |
X |
40490658 |
0.42 |
0.46 |
0.09 |
0.17 |
hCV299099 |
CAAAAGGCAAAGGAATTTGCAGAAAGCCTTCTAAGTACAA[C/T]AAGCACTGATTCTTCTTTATGCTATGCTCAAGGAAAGGAG |
G |
G |
C__11875499_10 |
|
|
calcium/calmodulin-dependent
serine protein kinase (MAGUK family) |
CASK |
Intron |
X |
40524843 |
0.16 |
0.31 |
0.07 |
0.03 |
hCV11875499 |
TCATTCTAAACCTAATTGCTTTGGCCTCATGTGACATTAC[A/G]CTGTATGGGGTTGAACCTTTCATTGCCCAAATACAAACAT |
C |
C |
C___9460005_10 |
rs1028913 |
|
G
protein-coupled receptor 82|calcium/calmodulin-dependent serine protein
kinase (MAGUK family) |
GPR82|CASK |
Intron |
X |
40618507 |
0.27 |
0.12 |
0 |
0.06 |
hCV9460005 |
TATCCTAGTCATGAAATAACGTGTTCTGAACAGAAGCACT[C/G]ACAGTTGAGTTTAAACAGAAAACAGCCTGTTAGTTTCATA |
C |
C |
C___2743841_10 |
|
|
calcium/calmodulin-dependent
serine protein kinase (MAGUK family) |
CASK |
Intron |
X |
40693425 |
0.48 |
0.5 |
0.09 |
0.17 |
hCV2743841 |
TTATCCCTAGGCTGTCCCACTAAACTGTGTAACTTTCCTC[G/A]GTACATTCAACCCCATTGGATAATTTATCACATTCATTGT |
T |
T |
C___8817997_10 |
rs707441 |
|
calcium/calmodulin-dependent
serine protein kinase (MAGUK family) |
CASK |
|
X |
40832438 |
0.28 |
0.07 |
0.14 |
0.21 |
hCV8817997 |
CAGGAGGGTGGTTGTAGGGATGTTGTTTGGCACTTGCTTT[G/C]TTTTCTTTTGATTTTCCCTTCAATTTTATTCCCTAACCTA |
G |
G |
C___2220603_10 |
|
|
|
|
|
X |
41574141 |
|
|
0.28 |
0.25 |
hCV2220603 |
TACTCCAGGAAGCTGACCTGTATAGACTGCCTTAAAAAAA[A/G]TCTTGCCTTGTGGCTTCTTGTTGGACTTCACCAATAGAAA |
T |
T |
C___2462657_10 |
rs3848971 |
|
|
|
|
X |
41587890 |
|
|
0.28 |
0.38 |
hCV2462657 |
CCAGGCTTCCTATCAGAGTAGCAAGTAATGTTCAAAGTTT[A/T]GAGCATTACACGAACCTGGAGATTATAGCTACTGATAATC |
A |
A |
C___8817950_10 |
rs999614 |
|
|
|
|
X |
41639680 |
|
|
0.47 |
0.45 |
hCV8817950 |
GCAATAGATATTTTGTGTGTTCAGGAGAAGAAGAGAAAGA[G/A]GAATTTTCCTGTCTGTAATCTATACTTTCTACATATGAAC |
C |
T |
C___2462683_10 |
rs734329 |
|
|
|
|
X |
41644289 |
0.16 |
0.33 |
0.29 |
0.3 |
hCV2462683 |
GAGCCTAGTACATATAATTTTGAAGGGAGGAAAATGTAGT[G/T]TTCCAACTCCTCTATCTTCCCATATCACTCTGTTTTCTCT |
A |
A |
C___8817946_10 |
rs929077 |
|
type
1 protein phosphatase inhibitor |
I-4 |
|
X |
41663318 |
0 |
0.17 |
0.33 |
0.24 |
hCV8817946 |
CCTCTTGGAGATAGGAGCTGTGCCCATGTGTCTGACATCT[C/T]TAAGCACAGTGTCTTGTACTCAACAGATGTTGTAGAACGG |
A |
A |
C___8817688_10 |
|
|
monoamine
oxidase A |
MAOA |
Intron |
X |
42584140 |
0.41 |
0.25 |
0.4 |
0.47 |
hCV8817688 |
GCTAGACTTCCCAAGAGTGAAGGCCAGGTACAGAGGAAAT[A/G]AAGCATTCCAAATAATGCCAGGTAAGAATGAGGATGAATA |
T |
T |
C___2491071_10 |
rs2064070 |
|
monoamine
oxidase A |
MAOA |
|
X |
42654664 |
0.31 |
0.28 |
0.41 |
0.48 |
hCV2491071 |
TCAGAAACTTGGCTCCAGGCTGAGACAACCAGTTCACATC[T/A]ACTGTCACTTTGAGACCTGCTTTTGCCTTCAAACTCTGAA |
T |
T |
C___8878790_10 |
|
|
monoamine
oxidase B |
MAOB |
Intron |
X |
42673981 |
0.45 |
0.17 |
0.25 |
0.16 |
hCV8878790 |
CTTAGTCCTTTAGGGAGCAGATTAGAAGAAAGATGGTGTC[A/G]CTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCT |
C |
C |
C__16174897_10 |
rs2239449 |
IMS-JST010594 |
monoamine
oxidase B |
MAOB |
Intron |
X |
42676183 |
0 |
0.11 |
0.08 |
0.21 |
hCV16174897 |
ATGTTAGTTCTTGACATCGCTTATCAGATATAAGAGAACC[A/C]TGAGACAGGATGAATAATGGCATGTTGACGGTGCTTTCCT |
#N/A |
#N/A |
C__15763403_10 |
rs3027452 |
|
monoamine
oxidase B |
MAOB |
Intron |
X |
42703771 |
0.11 |
0.01 |
0.22 |
0.14 |
hCV15763403 |
AGATAGTTTGCTTTCTGGTGTGCTTCCTGATAGGTGATAA[C/T]CTCTCACCATTTACCTGCCAATGTCAAGCAAAAGCTTACC |
A |
A |
C__15763402_10 |
rs3027453 |
|
monoamine
oxidase B |
MAOB |
Intron |
X |
42703847 |
0 |
0.19 |
0.09 |
0.13 |
hCV15763402 |
AGAAATCCCAGAGTGCACACTACTACTGATGAATTTTATG[C/G]TGTGCTAGATATAATGGAGTCCTCGAAATTGCATGAGATA |
C |
C |
C__15763499_10 |
rs3027465 |
|
monoamine
oxidase B |
MAOB |
Intron |
X |
42714361 |
0 |
0.06 |
0.07 |
0.14 |
hCV15763499 |
CTGGGTTATTCAGATGGGATCTGTCAAATAGAGTCTTGGA[A/G]GGGGCCCCTTCCCACCCTCATCACAGCATTTCCATATGAC |
C |
C |
C__15959461_10 |
rs2283729 |
IMS-JST033324 |
monoamine
oxidase B |
MAOB |
Intron |
X |
42724024 |
0.35 |
0.48 |
0.09 |
0.15 |
hCV15959461 |
GAGCTTCTGGAGCCTGGAACTATGTCTTATTTAATTTCCG[C/T]TTCTTCAGTGTATTTCTTAATGCCTGTTTCATAGCTTGCG |
#N/A |
#N/A |
C__16174887_10 |
rs2239450 |
|
monoamine
oxidase B |
MAOB |
Intron |
X |
42729109 |
|
|
0.07 |
0.14 |
hCV16174887 |
TGAACAGAATTTTAAAATTGAAGCTATACATAAGAATGGT[A/G]TGGGAAGTAGGGACCTTCTGAATTAAAAGTTTAATTTTGG |
C |
C |
C__15959450_10 |
rs2283731 |
|
monoamine
oxidase B |
MAOB |
Intron |
X |
42784409 |
|
|
0.04 |
0.13 |
hCV15959450 |
ACTAACTTTTTAGAAATGTGTATGGTGTATAAATGAGTAT[G/T]CACTGAAATCTCTTTTACCCAAGGGGCAGATCATCTCCAG |
A |
A |
C___8878741_1_ |
rs1159223 |
IMS-JST010592 |
Norrie
disease (pseudoglioma) |
NDP |
Intron |
X |
42878326 |
0.38 |
0.44 |
0.28 |
0.19 |
hCV8878741 |
TGAACGGGTCTTTGAAGTCTGTGACAGAGCAGGGAGCCTC[C/G]TAGAAAAGCTTGAAAATATCTTTTGGTTTGACTTAAAGAG |
C |
C |
C___8878654_1_ |
|
|
hypothetical
protein FLJ22843 |
FLJ22843 |
Intron |
X |
43054344 |
0.5 |
0.24 |
0.39 |
0.39 |
hCV8878654 |
CATATCAAAGGAACAGGAAAATATACCCTTCTTACTCCAC[G/A]GGAGGTTCTACAGAGTCATATGACAAAGAGTGTGGGCACA |
T |
T |
C___3250262_10 |
|
|
hypothetical
protein FLJ22843 |
FLJ22843 |
Intron |
X |
43098756 |
0.05 |
0.09 |
0.09 |
0.07 |
hCV3250262 |
GTACAGGAGAATCCATACAGATTCTGAAAAGTTAGTTTTA[C/T]TGTGTGAAAAGTTAGTTTTTGTTTGTTTGTTGTAGGAAAC |
G |
G |
C___2143949_10 |
|
|
hypothetical
protein FLJ22843 |
FLJ22843 |
Intron |
X |
43148010 |
0.09 |
0.4 |
0.09 |
0.09 |
hCV2143949 |
ACCTGGAGTTACTTTGGAGGCAATGGAGGGTACTCAAATA[C/G]AGGGTGCAGTAGGAGGAGATGGTGGATGGGGAAGGATAAA |
C |
C |
C__25641467_10 |
|
|
hypothetical
protein FLJ22843 |
FLJ22843 |
Intron |
X |
43190102 |
0.07 |
0.31 |
0.09 |
0.09 |
hCV25641467 |
ACTCCCTGAAGAGGGGCGCTCAATTGCCATCTTTTCTTTG[C/T]GCTTTTGAATTACTGAATGGGAGTTATAGTTATCCGGAAC |
G |
G |
C___1331670_10 |
|
|
hypothetical
protein FLJ22843 |
FLJ22843 |
Intron |
X |
43228348 |
0.42 |
0.25 |
0.28 |
0.29 |
hCV1331670 |
CATAATTTATGTATGTTCATGGAGCAAATATTATTATGGC[T/C]AAGAATGTCATAAAAGTGGAGATAAATCTATAAATCTATT |
A |
A |
C___1331678_10 |
|
|
hypothetical
protein FLJ22843 |
FLJ22843 |
Intron |
X |
43244758 |
0.42 |
0.26 |
0.37 |
0.43 |
hCV1331678 |
GTCCACGGCTAGGTGATACGCAACCTGTATTTCTCTCTCT[G/C]AAATACAAGAAGTATGGTGCCTTCTAAAATATGAACATTT |
C |
C |
C___2477744_10 |
|
|
hypothetical
protein MGC51029 |
MGC51029 |
|
X |
43421675 |
0.14 |
0.38 |
0.07 |
0.09 |
hCV2477744 |
CAGAATTCACAATGATTTTACATGAACATCACTGTAGAAT[C/T]GAGTAGTGGGCTTAGCTCCATAGAAAAGGAAATGTTTATA |
A |
A |
C__11181057_10 |
|
|
hypothetical
protein MGC51029 |
MGC51029 |
Intron |
X |
43444276 |
0.05 |
0.41 |
0.09 |
0.08 |
hCV11181057 |
TTATTGAGTGGAACAACAGCTGGACCTGAAAGGGTAGGAA[A/T]GGTAGGAAAGCTTTAGATAGGTAGAGCTAGGAAGAAACCC |
T |
T |
C___8818180_1_ |
rs1045031 |
|
dual
specificity phosphatase 21 |
DUSP21 |
Mis-sense
Mutation |
X |
43749917 |
|
|
0.07 |
0.05 |
hCV8818180 |
ATGTCAGGGGCTGGCCGGGATGGCTTACATTGATATCATC[A/G]TACGTAGGTCCTTCTCATAGATGTCAGGGATGTTACCTAC |
C |
C |
C__11180720_10 |
|
|
dual
specificity phosphatase 21 |
DUSP21 |
|
X |
43757811 |
0.05 |
0.36 |
0.05 |
0.03 |
hCV11180720 |
GGGAAAGAGACACCAAGGTAGCTGGAAATGGGCTCTCAAG[C/T]ATCCACAGATAAATGCAACGCTCTTATTGGATATATTGGA |
A |
A |
C___3068299_10 |
|
|
ubiquitously
transcribed tetratricopeptide repeat gene, X chromosome |
UTX |
Intron |
X |
43829704 |
0.03 |
0.29 |
0.05 |
0.03 |
hCV3068299 |
ATTGCCTCCACACTGGGCAACATTAGCCCAAGACTAAAGG[C/T]TGCTCTATTCCCAGAGGCTTGTATAATTAAAAGCAAGCCT |
G |
G |
C__25653911_10 |
|
|
ubiquitously
transcribed tetratricopeptide repeat gene, X chromosome |
UTX |
Intron |
X |
43879823 |
0.48 |
0.03 |
0.26 |
0.22 |
hCV25653911 |
TATGTCTCACTTTAAAGTCAATAATACACTTAACAAACAC[G/T]GTAACAAGATTCCCACCACACCCACCTCCCAGTAGATAGT |
C |
C |
C___1682329_10 |
|
|
ubiquitously
transcribed tetratricopeptide repeat gene, X chromosome |
UTX |
Intron |
X |
43917897 |
|
|
0.05 |
0.03 |
hCV1682329 |
TAGGGAAACCATATAAAATCACTGTCAATGCATATGTAAA[C/T]GCTCTGTAATAAGTATTCAGGGTGCCCAATAGGTATATGA |
G |
G |
C__11875576_10 |
|
|
ubiquitously
transcribed tetratricopeptide repeat gene, X chromosome |
UTX |
Intron |
X |
43968428 |
0.05 |
0.31 |
0.05 |
0.03 |
hCV11875576 |
TGTATTTGTTCATTTTAAAATAAACTTCCTTGAAAAAGCA[A/G]AAGTCGGTTTCAAAAAAAAAAAATCCCATTAGTAATGACA |
C |
C |
C____124450_10 |
|
|
hypothetical
protein FLJ14103|hypothetical protein LOC286399 |
FLJ14103|LOC286399 |
|
X |
44064797 |
0.21 |
0.48 |
0.46 |
0.48 |
hCV124450 |
ATGAGAGGATCACATCATATAACCCTGCAGTTAGCACCAG[A/G]CTGTATTCAGACTGTATTTGTGGACACAAAGGGAACAAAA |
G |
A |
C____285031_10 |
|
|
hypothetical
protein FLJ14103 |
FLJ14103 |
|
X |
44106958 |
0.25 |
0.29 |
0.24 |
0.25 |
hCV285031 |
GCCCCAGGATTGCCTTCCTCAGGATACCAAGATAAGGTCC[G/A]CAGCATGGAGTAGATGGAAGTGCTAATTTGGGAGTAGAGA |
A |
A |
C___2227533_10 |
rs764120 |
|
|
|
|
X |
44633080 |
|
|
0.36 |
0.49 |
hCV2227533 |
GGTTTAACACTTAAATATATGGCTACATTGAGGTGAAAGA[C/G]GGACGGCAGGAACAATGGGAGGAAACAAGTGCATTAGAAA |
G |
C |
C___2219085_10 |
rs736163 |
|
|
|
|
X |
44789565 |
0.45 |
0.13 |
0.1 |
0.16 |
hCV2219085 |
AATATACAGGAGTTGGCTGTATTTTATTGGATGACTGTCT[C/G]TTGTCTTTTTTTAAGTCTGGTTTTTTTTTTTTTCAATCTT |
C |
C |
C___8818942_10 |
|
|
hypothetical
protein FLJ20344 |
FLJ20344 |
|
X |
45350386 |
0.37 |
0.07 |
0.19 |
0.06 |
hCV8818942 |
ATGCCAATGTCATGAATGGCAAATGCTAGCATCCCAATAA[C/T]GGTGTGCCCTTCATGAAACCCCATCCAAAGATTCAGCCCC |
C |
C |
C__15838593_10 |
rs2179208 |
|
carbohydrate
(N-acetylglucosamine 6-O) sulfotransferase 7 |
CHST7 |
Intron |
X |
45483440 |
0 |
0.14 |
0.12 |
0.2 |
hCV15838593 |
TGGTCCATACCCAATGGCCAGGATTTGGCAGTGAGGGAGT[T/C]AGTGAAGTTTTTTCTGGTCTGGGTAGGGGCCGTAGCACCC |
T |
T |
C___8879725_10 |
rs6640 |
|
carbohydrate
(N-acetylglucosamine 6-O) sulfotransferase 7|solute carrier family 9
(sodium/hydrogen exchanger), isoform 7 |
CHST7|SLC9A7 |
|
X |
45505110 |
0.48 |
0.4 |
0.21 |
0.38 |
hCV8879725 |
ACTGCAGTTTTCCTTATTGCACATAAAGGTTGTGGATAAC[T/G]CCAAGTCTTTAATTTTTCACAGTTATACTTTAATGTCATT |
G |
G |
C___2479184_10 |
|
|
solute
carrier family 9 (sodium/hydrogen exchanger), isoform 7 |
SLC9A7 |
Silent
Mutation |
X |
45518808 |
0.47 |
0.11 |
0.25 |
0.44 |
hCV2479184 |
TGGTTAGTGGGGGACCACTGTGTGTGAGGATGGGCTTCAG[G/A]TAACTTTAAAATGTGAATTAAGGAAAAATGGCTGCAAAGA |
G |
G |
C__15952035_10 |
rs2235314 |
|
solute
carrier family 9 (sodium/hydrogen exchanger), isoform 7 |
SLC9A7 |
Intron |
X |
45567799 |
|
|
0.12 |
0.22 |
hCV15952035 |
CATGTTACGCTGGTGTCAGCATTCTGATTGCTGCTGGGCA[C/A]ACAAAGCAACGTAATTTTATCCACAAAGCTGATAAATCTC |
A |
A |
C__15952085_10 |
rs2235315 |
|
solute
carrier family 9 (sodium/hydrogen exchanger), isoform 7 |
SLC9A7 |
Intron |
X |
45568155 |
|
|
0.09 |
0.17 |
hCV15952085 |
CTGATTACAGATTTATAGAGGCAATTCCTATCTTGGGTGG[A/G]ACTGGGTGATTCAAGAGATAGCAAGGGAGTCAAAGATAGA |
A |
A |
C___7718553_10 |
|
|
RNA
binding motif protein 10|ubiquitin specific protease 11 |
RBM10|USP11 |
Intron |
X |
46082575 |
0.4 |
0.23 |
0.28 |
0.26 |
hCV7718553 |
TCGAATTGTTAACTGTAATCATGAAAGAAAAGCACAGAGC[G/A]TTCTGAGAGCCCATAGCAGGTAGCTCAAGCCTGAAGGCCA |
G |
G |
C__15852026_10 |
|
|
inactivation
escape 1|ubiquitin specific protease 11|ubiquitin-activating enzyme E1 (A1S9T
and BN75 temperature sensitivity complementing) |
INE1|USP11|UBE1 |
Mis-sense
Mutation |
X |
46108516 |
0.23 |
0.11 |
0.1 |
0.06 |
hCV15852026 |
GGGAGGCCTCTCTAACCCTCCTCCCTTTGCATTCCTTAGC[A/G]CCAGAACCGTTATGACGGGCAAGTGGCTGTGTTTGGCTCA |
A |
A |
C___2779421_10 |
|
|
PCTAIRE
protein kinase 1|ubiquitin specific protease 11|ubiquitin-activating enzyme
E1 (A1S9T and BN75 temperature sensitivity complementing) |
PCTK1|USP11|UBE1 |
Intron |
X |
46128231 |
0.36 |
0.15 |
0.3 |
0.25 |
hCV2779421 |
AGTCTAGATTGGACCCTAGGGGTCCTAACCTGATCAAACC[T/G]TTCTGGCAGCCCTGAGAAGAGCTGGTGTACACTGAGACCC |
G |
G |
C___2779420_10 |
|
|
PCTAIRE
protein kinase 1|ubiquitin specific protease 11 |
PCTK1|USP11 |
Intron |
X |
46132329 |
0.4 |
0.17 |
0.29 |
0.23 |
hCV2779420 |
AGGTGAGGAGGCATGGGCCCTAGGCGCTGTGGAGACACAC[G/A]GGGAGGACCTGTGAAATGTTTGGGATAACTCCTCTTCCCT |
G |
G |
C___2779399_10 |
|
|
|
|
|
X |
46177797 |
0.32 |
0.12 |
0.47 |
0.45 |
hCV2779399 |
GTCGCACACATGTCCAGTTTTCCAGGTCCAAGACATACAA[C/A]AGTACTGCTTTATAATAGCCACCAGGGGTGAAGCCAGGAA |
C |
C |
C____194929_10 |
rs4481738 |
|
zinc
finger protein 157 (HZF22) |
ZNF157 |
|
X |
46323713 |
|
|
0.23 |
0.38 |
hCV194929 |
ATCTCAATTGAAATGTGAAAACAAAGCAATAAAACATCCC[C/T]TGTTCCCATTTCAGGAGTCATGTCTGGGCTGCCTGGGAGG |
T |
T |
C___2459045_1_ |
rs2071780 |
IMS-JST007461 |
zinc
finger protein 41 |
ZNF41 |
Intron |
X |
46387803 |
0.3 |
0.26 |
0.22 |
0.32 |
hCV2459045 |
AATGCTTGATCCATGTCATAACATCTCCATATTTATCTCA[G/A]TGCTTAAGTGGCCCTAAGTCCGTCTGTTAAACTCACTCCC |
G |
G |
C___2459020_10 |
|
|
v-raf
murine sarcoma 3611 viral oncogene homolog 1 |
ARAF1 |
|
X |
46462597 |
0.07 |
0.24 |
0.24 |
0.3 |
hCV2459020 |
TGTAAGGTACTTGGCTGAAGTGCCAGTTGAGATGGGTGTG[A/G]AGTGAGTCTATGAGTCCTTGGGGGAGAAAGCATTGCCTTT |
G |
G |
C__11175659_10 |
rs4898 |
|
synapsin
I|tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity,
collagenase inhibitor) |
SYN1|TIMP1 |
IntronMis-sense
Mutation |
X |
46490967 |
0.42 |
0.48 |
0.48 |
0.34 |
hCV11175659 |
AACTGCAGGATGGACTCTTGCACATCACTACCTGCAGTTT[C/T]GTGGCTCCCTGGAACAGCCTGAGCTTAGCTCAGCGCCGGG |
C |
C |
C___8938113_1_ |
rs2294219 |
|
synapsin
I |
SYN1 |
Silent
Mutation |
X |
46512343 |
|
|
0.3 |
0.17 |
hCV8938113 |
CAAGGTACCCTTCTTATACTCACCGCACGACCTTCACCCC[A/G]TTCCGAAGAACTTCCATATCCACAGAGAATCCACCATTGG |
G |
G |
C___2457342_10 |
rs766775 |
|
properdin
P factor, complement|synapsin I |
PFC|SYN1 |
|
X |
46528009 |
0.28 |
0.43 |
0.23 |
0.19 |
hCV2457342 |
TGCACACACGGGACTCCTGCATTGTTATGGCATACATACA[A/T]TTGTAACCTCACACACATGCCACATATCAATACATCCTTA |
A |
A |
C___2457367_10 |
|
|
|
|
|
X |
46661809 |
0.41 |
0.31 |
0.29 |
0.39 |
hCV2457367 |
CCCGATCATCTCATCTCTTCCATGTAGCAAGCCATGCTGC[A/T]AGATCAATTGGAAATTCTGCATCAAAGTGTTGCAAGACAT |
A |
A |
C___8938071_10 |
rs909713 |
|
|
|
|
X |
46708954 |
0.38 |
0.39 |
0.17 |
0.28 |
hCV8938071 |
ACTCAGCTGGATCCCAAGGAAGAAGAAGTGTCACTGCAAG[G/T]AATCAACACCCGAAAAGCCTTCAGAAGCTCCACCATTCAA |
T |
T |
C___3267956_10 |
|
|
|
|
|
X |
46956033 |
0.45 |
0.39 |
0.07 |
0.1 |
hCV3267956 |
TGGCTCTTCCAAATGTTAGGAATATGCAAACTGATACTAT[G/C]GCTGTGTCTGGTATATGCTGTGTTAAATACTACACTAAAT |
C |
C |
C___7477209_10 |
|
|
|
|
|
X |
46971916 |
0.44 |
0.07 |
0.38 |
0.33 |
hCV7477209 |
CAATACCACCCTGGACTGAAAACCACTGACCTTCAGGAAA[A/G]CTCAGTAATAAAATTCCTCAAGTTAAAGTCCCAGAAATCT |
A |
A |
C___8346107_1_ |
rs909322 |
|
solute
carrier family 38, member 5 |
SLC38A5 |
Intron |
X |
47364404 |
|
|
0.26 |
0.33 |
hCV8346107 |
GATTGTCAGAGGATGGAGGCAGGAAGCCTGTTCAGAACAT[G/A]GAGACACAGATGTTGGGTTAGGCAGGGTGGAGCCATAGAT |
G |
G |
C__16193862_10 |
rs2293952 |
IMS-JST047263 |
solute
carrier family 38, member 5 |
SLC38A5 |
Intron |
X |
47366283 |
0.23 |
0.25 |
0.47 |
0.39 |
hCV16193862 |
TGTCATATGGTGCATCCTGCTCAGAGTGGAGCTGGATATT[G/C]GACATTGGGAGCTTCTATGTGTCTGATATGGAGGGCGATT |
G |
C |
C__16185620_10 |
rs2293953 |
|
solute
carrier family 38, member 5|FtsJ homolog 1 (E. coli) |
SLC38A5|FTSJ1 |
Intron |
X |
47372198 |
|
|
0.44 |
0.35 |
hCV16185620 |
GAGTCAGGGGTCCAAGGAGGTGGGCTCAGGGATCAGGGGT[T/C]AGGATTTCCCTCTTATCGGCCCCTATTTCCCTGCCCTATC |
T |
C |
C___2357619_10 |
rs760395 |
|
FtsJ
homolog 1 (E. coli) |
FTSJ1 |
|
X |
47391757 |
|
|
0.47 |
0.39 |
hCV2357619 |
AATTTAAACACCATTTCTGACTGGAGATTGGACAATGGTT[T/G]TCCCAGACTTGAGTGTGCATACTCCTGGGGTCACACATGG |
T |
G |
C___8346148_1_ |
|
|
emopamil
binding protein (sterol isomerase)|likely ortholog of mouse porcupine homolog
(Drosophila) |
EBP|PPN |
Intron |
X |
47416455 |
|
|
0.32 |
0.48 |
hCV8346148 |
GACAGACAGACTTCGGGAAAATGCACGGTGGAAAGAGACA[C/T]GGACCCAAGAGTAATGTGAGGTCTGCACGTCCAGTGGGGT |
T |
C |
C___2779347_10 |
|
|
emopamil
binding protein (sterol isomerase) |
EBP |
|
X |
47437849 |
0.09 |
0.1 |
0.12 |
0.05 |
hCV2779347 |
TCTGTAGGGGTGCTGATGTGCTAGCTCATAAGGTGAGAGG[C/G]CTTTGTGGTGTGAGAGATGGAGGGCCTGTGAGATGAGTGG |
C |
C |
C__16265554_10 |
rs2249583 |
IMS-JST022948 |
RNA
binding motif protein 3 |
RBM3 |
Intron |
X |
47479481 |
0.41 |
0.3 |
0.48 |
0.4 |
hCV16265554 |
AAGAATGGTGACAGGAAGGAGAAAGAAAATGGAGATGTGA[G/C]AAAATAGCGAGACGGAAAGCAGAGAAAAAGCACAGAAAAT |
#N/A |
#N/A |
C___2357648_1_ |
rs235829 |
IMS-JST010860 |
RNA
binding motif protein 3 |
RBM3 |
UTR
3 |
X |
47481910 |
0.06 |
0.09 |
0.14 |
0.02 |
hCV2357648 |
TAAAAACAAAAGGTTGATATACTATAAAATAAGATGCTTC[A/G]GTGCAGCTCCAAAAACCTTTATAAATACAGCCATTTGGAA |
G |
G |
C___2779369_10 |
rs235826 |
|
RNA
binding motif protein 3 |
RBM3 |
|
X |
47484361 |
0.39 |
0.3 |
0.49 |
0.42 |
hCV2779369 |
GACAAATGTGCATCAGTTGGATGCTGAAGACAAACCAAAG[T/C]AGGAGACCAACAAGCACTTTAAGGGTGGTCGGGGGTTGAC |
T |
C |
C___2357664_10 |
rs235837 |
|
WD
repeat domain 13 |
WDR13 |
|
X |
47510748 |
0.13 |
0.46 |
0.09 |
0.05 |
hCV2357664 |
GCTTGGGGCTCCAGGACTCAACACCTCTGCTCCCTGCTTT[C/T]AATAAACAACACAATGCACAGAAGGGTTGGGAATATCGCC |
C |
C |
C___2779382_10 |
rs235818 |
|
WD
repeat domain 13 |
WDR13 |
|
X |
47516712 |
0.32 |
0.27 |
0.45 |
0.44 |
hCV2779382 |
AGAGGAATTTATAGTGGAAGAATGAACAGACACCATCGTT[A/T]AAAGTCAGACACGGACATTGATGTTAGGAGAGTTAATACA |
T |
A |
C___2779431_10 |
|
|
|
|
|
X |
47666159 |
|
|
0.09 |
0.21 |
hCV2779431 |
GGCAGCCTGGAGGGCAGATGGCGCAGCATGGCAGGGTAGG[T/C]GTCTTTGCCCAGGGTCCTCCCGACAATCCTCTGGCTCAGC |
T |
T |
C__15863131_10 |
rs2075840 |
|
histone
deacetylase 6 |
HDAC6 |
Intron |
X |
47718765 |
0.18 |
0.3 |
0.1 |
0.29 |
hCV15863131 |
GAGGTAAGAGAGTTGGAGAAGTCAATCCCCATAGACACCC[C/T]CAACCCAACAGTTGCCAGTTTCCTCTACCACTCATTTCCC |
T |
T |
C___2788543_1_ |
rs2239453 |
IMS-JST010598 |
pim-2
oncogene|polyglutamine binding protein 1|solute carrier family 35
(UDP-galactose transporter), member A2|translocase of inner mitochondrial
membrane 17 homolog B (yeast) |
PIM2|PQBP1|SLC35A2|TIMM17B |
Intron |
X |
47806769 |
0.43 |
0.33 |
0.33 |
0.24 |
hCV2788543 |
CCTCACCACCGCCGCCCTCACTTGCTCAGGAAACCCGCCT[A/G]CCAGCCTAGCCCAGCTTTGTGTTTTTCTTTCCTCCCCATT |
G |
G |
C___2788549_1_ |
rs2238978 |
IMS-JST019971 |
hypothetical
protein DKFZp761A052|pim-2 oncogene|polyglutamine binding protein 1|solute
carrier family 35 (UDP-galactose transporter), member A2 |
DKFZp761A052|PIM2|PQBP1|SLC35A2 |
|
X |
47815599 |
0.14 |
0.07 |
0.11 |
0.09 |
hCV2788549 |
ACCGCCTCTGGCCCGGACTCTTGCCCTGCTTCCAAATGCT[A/G]GCTAACCTGTGAGCCTTTCGCCTGTCCCCTTTGCCATCCT |
G |
G |
C___2788555_10 |
rs1003590 |
|
hypothetical
protein DKFZp761A052|potassium voltage-gated channel, Shal-related subfamily,
member 1 |
DKFZp761A052|KCND1 |
|
X |
47864412 |
0.16 |
0.38 |
0.11 |
0.13 |
hCV2788555 |
GAAATGAAAGAGTGTGGTTTGAGGAGTTCATCTACAGCCA[A/G]TGAGACAGGCCAGGGGGTCCTGAGACATTCCTCCTTGGAT |
G |
G |
C__11611030_10 |
rs2064034 |
|
GRIP1
associated protein 1|hypothetical protein DKFZp761A052|potassium
voltage-gated channel, Shal-related subfamily, member 1 |
GRIPAP1|DKFZp761A052|KCND1 |
Intron |
X |
47869952 |
0.42 |
0.09 |
0.21 |
0.08 |
hCV11611030 |
TGGCATGGAGAAAGGCAGGAGGGTTTCAAGGCTCCTCCCT[A/G]TTTTGTCATATGTGGACAGTTTTCAAGGATTCCCCTATAG |
A |
A |
C__15763452_10 |
rs3027481 |
|
GRIP1
associated protein 1|potassium voltage-gated channel, Shal-related subfamily,
member 1 |
GRIPAP1|KCND1 |
|
X |
47874543 |
|
|
0.11 |
0.13 |
hCV15763452 |
TGCATCATTCCCTGTGGCACTCCGCTCTGGGGCCATTAAC[A/T]GACGCCTTCCCATCGATCGGATCTGCTAAGTGCTGCTGAT |
A |
A |
C__15763476_10 |
rs3027475 |
|
GRIP1
associated protein 1 |
GRIPAP1 |
Intron |
X |
47883837 |
|
|
0.31 |
0.2 |
hCV15763476 |
TGTAAATGCAAATCTAAGTCAACCATGCGAATGGTGCAAC[G/T]TTAGATGTGACACTTCAGCATATTGCCTAAGGGCGTGTGG |
G |
G |
C__15868733_10 |
rs2071314 |
|
LIM
domain only 6|PDZ domain containing, X chromosome|proteolipid protein 2
(colonic epithelium-enriched) |
LMO6|FLJ21687|PLP2 |
Intron |
X |
48054712 |
|
|
0.13 |
0.07 |
hCV15868733 |
CCCGGACCATCCAGTTCCGCATGGTCCAGCCACCCCATCC[C/G]GCTTTTGCCCACGCGCCTGCCCCAGAACGCTCACAATCTC |
G |
G |
C___2610434_10 |
rs3817678 |
|
LIM
domain only 6|synaptophysin|calcium channel, voltage-dependent, alpha 1F
subunit |
LMO6|SYP|CACNA1F |
Intron |
X |
48073559 |
0.31 |
0.21 |
0.4 |
0.37 |
hCV2610434 |
AGTGTGGAATTTCAAAGGAGGAAGAGGGATAGGGTGGGGT[T/C]CTGGAAAGGTTTGCCGGCCTTCTTGCTGGGCCTTAAAAGA |
T |
T |
C__16185830_10 |
rs2294019 |
IMS-JST047375 |
JM1
protein|forkhead box P3|forkhead box P3 |
JM1|FOXP3|FOXP3 |
Intron |
X |
48129331 |
0.29 |
0.37 |
0.4 |
0.38 |
hCV16185830 |
AGGCCCTGCCTCCTCCAAGGACCCCCTGACAAGAGTATAC[A/T]GACAAGTCACCCCCACCCTCCAGCCTTCCCACTAAGGCAG |
A |
A |
C___2766057_10 |
rs3761547 |
|
forkhead
box P3|protein phosphatase 1, regulatory (inhibitor) subunit 3F |
FOXP3|PPP1R3F |
Intron |
X |
48144695 |
0.12 |
0.03 |
0.24 |
0.22 |
hCV2766057 |
GTATCCCTATCTCTCAGCCAGTCCCCTGGATAGAGGGGCA[G/A]TTGTCAACTTGAAGCCCTGCAGACACCTAATGACTTAACC |
G |
G |
C___2766059_10 |
|
|
forkhead
box P3|protein phosphatase 1, regulatory (inhibitor) subunit 3F |
FOXP3|PPP1R3F |
|
X |
48155257 |
|
|
0.22 |
0.2 |
hCV2766059 |
CCACACAGCTGATGGGCGGAGCCGAATTTAGGAGAGGAAT[C/A]CAGGAAACTGTAGGTGTGGCTCCCTAAATACTGACACTAG |
A |
A |
C__11875790_10 |
|
|
protein
phosphatase 1, regulatory (inhibitor) subunit 3F |
PPP1R3F |
|
X |
48175814 |
0.37 |
0.38 |
0.38 |
0.36 |
hCV11875790 |
CTTGGGGCTCCCCGTGGGCAGAGATGAGGACCAACAGGAA[A/G]GAATAGTGGCACAGTGGCTGGCCACCCCAGAACACTACAG |
G |
G |
C___2766072_10 |
|
|
G
antigen 7B |
GAGE2 |
|
X |
48291167 |
0.37 |
0.1 |
0.38 |
0.38 |
hCV2766072 |
GCAGAACTGTTTTCTTGGGGTGGGGGGTGCTGTGAAGATG[C/G]AAACAAGACCTCAGAGGTGTAACCTGTCTTTGTGTATAGT |
G |
G |
C___2766077_10 |
|
|
G
antigen 7B |
GAGE2 |
|
X |
48299166 |
|
|
0.37 |
0.39 |
hCV2766077 |
GATTTGGGGAAAGATATAGTGAGGTGTCCCAGAAGTCCTG[G/A]TCCAGACACCTGCACCATTCACAGTCTGCTGCTCACCCAT |
A |
A |
C___2766088_10 |
|
|
|
|
|
X |
48310145 |
0.35 |
0.11 |
0.36 |
0.38 |
hCV2766088 |
CACTGCAAGAATGACTGACTGGAGGCAGGGTGCCTGCTGG[A/G]CTTGTGACTTGAGTTTAGGGATGAATGGGCACCACAAGAC |
A |
A |
C__11175826_10 |
|
|
|
|
|
X |
48357802 |
0.08 |
0.05 |
0.4 |
0.27 |
hCV11175826 |
CCCTTATCACAGGAGAGCTGACTCAACTTCAGATGCAGAG[A/G]CATTCCCTTTCAAGAGGACAAATGTAATGCCCAGGGGCTC |
A |
A |
C__11611055_10 |
rs1882984 |
|
G
antigen, family B, 1 (prostate associated) |
GAGEB1 |
|
X |
48387856 |
0.37 |
0.01 |
0.08 |
0.05 |
hCV11611055 |
ATATTAACCTTGAGACATCTATATGCCTTAACTTGACACT[A/C]GGTCATTAACAATTAACTGTTGTTTCTGATATTTCCAAGA |
C |
C |
C___9187962_1_ |
rs2295543 |
IMS-JST049407 |
|
|
|
X |
49258481 |
0.25 |
0.5 |
0.19 |
0.09 |
hCV9187962 |
GTGGGCTCTATCCTAGTCACTGGAAACAAAGGAAACTTGG[C/G]CAAGTCATGAGCAACTCCAGTCTTTTGGGCAAGCACCTTC |
G |
G |
C___9187956_10 |
|
|
|
|
|
X |
49266474 |
0.32 |
0.5 |
0.4 |
0.32 |
hCV9187956 |
GATGACAACTGGCTCAGTGGAGTGAACAAACACTGGCAGT[C/T]CTGCTGCCAGAACACACTCTTGCTTTGGCCTCCCTGCCCA |
T |
T |
C___9187945_10 |
|
|
|
|
|
X |
49288482 |
0.48 |
0.44 |
0.33 |
0.39 |
hCV9187945 |
GCCTGGTGAAGCAGAATAAACATAGATCCTTGGCGCAGTC[T/A]CACTGGCTAAGACACTTAATAGTGGTGTTATTTGAGGTTA |
A |
A |
C___9187943_10 |
rs1406987 |
|
|
|
|
X |
49300390 |
0.47 |
0.15 |
0.4 |
0.37 |
hCV9187943 |
GCCTTGTTCTACCTCCAGTCACTGCTTTTAGGTCATATCA[C/T]GTTAAACGCCAACTGAATTGGGGTACTCTCCTATTCAAGA |
T |
T |
C__15787836_10 |
rs2382673 |
|
|
|
|
X |
49474472 |
0.34 |
0.32 |
0.22 |
0.14 |
hCV15787836 |
ACCTTGCCTAGAGGGGTGGAAAGCAAAGCCAGCAGGCCAG[G/C]GGACATAGTGAGGCTGTGTGTGTAGACTGCTCTGTGTGTA |
C |
C |
C____362271_10 |
rs952422 |
|
bone
morphogenetic protein 15 |
BMP15 |
|
X |
49560880 |
0.11 |
0.49 |
0.05 |
0.02 |
hCV362271 |
AAGGATCCAGTATACAGTAGATAATCAGTATCAGTGACTT[A/G]TATCAGAACTTCTTTCTTACAACTGCTGTGCCTTACAAAT |
A |
A |
C___7455457_10 |
|
|
bone
morphogenetic protein 15 |
BMP15 |
Intron |
X |
49571822 |
0.38 |
0.28 |
0.03 |
0.16 |
hCV7455457 |
ACTTCAAGGAATTCTTGGGAACCTAGTGAGATCAATCTGT[A/G]GCCTTCACTAGTCTGAGATGAAAAGGGACAGGACTTAATC |
G |
G |
C__11876046_10 |
|
|
bone
morphogenetic protein 15 |
BMP15 |
|
X |
49576983 |
0.02 |
0.2 |
0.1 |
0.05 |
hCV11876046 |
CAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAA[G/A]GAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTT |
A |
A |
C___3175987_10 |
|
|
|
|
|
X |
50070408 |
0.13 |
0.14 |
0.07 |
0.05 |
hCV3175987 |
TCAGAGGTACAAACTCTAGGAATTTAACAAATTTATACTC[G/A]CAGTCGTTACATGAATGCTTCTGAGAACAGTAGTTTTTCT |
A |
A |
C___3175973_10 |
rs1875754 |
|
|
|
|
X |
50095192 |
0.26 |
0.38 |
0.1 |
0.05 |
hCV3175973 |
ACTAGTCTCTCCATAAATGTTTACTGCTAGTACTATAGTG[T/C]ACTACTCAGAATGTAGGATGAAAAATAATCAAGTACTGTC |
T |
T |
C___8759295_10 |
rs976556 |
|
G1
to S phase transition 2 |
GSPT2 |
|
X |
50407247 |
|
|
0.05 |
0.07 |
hCV8759295 |
CTTTGCTGTCAAACCTCATACTCATGAGCTAGTTGAATAG[T/G]TGTGGGGACTGCTGGCACAACACCCTGGGCTCATTCATGC |
G |
G |
C____277473_10 |
|
|
melanoma
antigen, family D, 1 |
MAGED1 |
Intron |
X |
50554357 |
0.13 |
0.12 |
0.1 |
0.08 |
hCV277473 |
TTGGTCTCCCAAACGCCGGGATCCGGTTTGACCCTATTTA[G/A]TGACTAGACTCCGTGGGCTTTTCGAATTCCCATCGTTTAT |
A |
A |
C__11876071_10 |
|
|
melanoma
antigen, family D, 1 |
MAGED1 |
|
X |
50565385 |
0.23 |
0.25 |
0.1 |
0.14 |
hCV11876071 |
ACAAACAAAAGTGCATTCACTCCTTTCCAAAGCAAGAAAA[C/G]CAAAAGTCTCATAAGCTGTTGCATGCAGATCCAAATCCAG |
C |
C |
C__15966221_10 |
rs2291723 |
|
G
antigen, family D, 3 |
GAGED3 |
|
X |
51041444 |
0.44 |
0.23 |
0.44 |
0.43 |
hCV15966221 |
GGCCTGGGTCACCAGCCCACAGCATTCCCACTTCCCAGGC[C/T]TGTTCCTTCCCACCCACCCTGCCCCTTCCTGGTTCCCCAC |
A |
A |
C__15860359_10 |
rs2807033 |
|
|
|
|
X |
51829812 |
|
|
0.5 |
0.49 |
hCV15860359 |
CCTTTGTTCAAGTTCTTGTCCTGCATCCAGGAAGTATAAG[G/A]TACACAGACAAGTGGAGGGTAAACAAGACAAAGAGGACTT |
A |
G |
C___7422118_10 |
rs1536248 |
|
Jumonji,
AT rich interactive domain 1C (RBP2-like)|Smcx homolog, X chromosome (mouse) |
JARID1C|SMCX |
Intron |
X |
52192292 |
0.03 |
0.49 |
0.11 |
0.19 |
hCV7422118 |
GTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACA[T/C]ATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCA |
A |
A |
C__11612927_10 |
rs1977364 |
|
Jumonji,
AT rich interactive domain 1C (RBP2-like)|Smcx homolog, X chromosome (mouse) |
JARID1C|SMCX |
Intron |
X |
52194939 |
0.03 |
0.44 |
0.25 |
0.23 |
hCV11612927 |
GCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGG[A/C]CCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTG |
G |
G |
C__11612924_10 |
rs1886887 |
|
Jumonji,
AT rich interactive domain 1C (RBP2-like)|Smcx homolog, X chromosome (mouse) |
JARID1C|SMCX |
|
X |
52223227 |
0.03 |
0.28 |
0.1 |
0.19 |
hCV11612924 |
AAAGTGATGCTAATCACAGTAATATCACTAGCCTCTCACA[T/C]GGATAAGCATCTAATTGCCTACATGGCTAGTTCATACCAA |
A |
A |
C___1244124_10 |
rs1547218 |
|
|
|
|
X |
52313819 |
0.05 |
0.11 |
0.08 |
0 |
hCV1244124 |
TACAAACCCAGAACAGACCTAGCAGGGGAGTCGCTTGCAG[C/T]AGCAGCAGTGACAGCAATGGCTACTGCATCAACAGGCCCT |
G |
G |
C__16185809_10 |
rs2297104 |
|
SMC1
structural maintenance of chromosomes 1-like 1 (yeast) |
SMC1L1 |
Intron |
X |
52397621 |
|
|
0.08 |
0.09 |
hCV16185809 |
AAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTAC[G/A]GGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGG |
C |
C |
C___7422215_10 |
rs1264011 |
|
SMC1
structural maintenance of chromosomes 1-like 1 (yeast)|hydroxyacyl-Coenzyme A
dehydrogenase, type II|hypothetical protein FLJ32783 |
SMC1L1|HADH2|FLJ32783 |
UTR
5 |
X |
52416359 |
0.46 |
0.06 |
0.43 |
0.45 |
hCV7422215 |
CAATCAGTTTCAGGAACCCCATGACGGCCGCGGCGCCGGC[A/G]GCAGTAGGACAGGCCGCGCCGTACGCCCGAGAACTGAGGT |
T |
C |
C___2986612_1_ |
rs3747437 |
|
upstream
regulatory element binding protein 1 |
UREB1 |
Intron |
X |
52529444 |
0.47 |
0.08 |
0.36 |
0.47 |
hCV2986612 |
CTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAA[G/C]AGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCA |
G |
C |
C__15875873_20 |
rs2281481 |
|
upstream
regulatory element binding protein 1 |
UREB1 |
Mis-sense
Mutation |
X |
52544678 |
|
|
0.08 |
0.15 |
hCV15875873 |
TGCCTCCCTCTGTACCCGGGCTTCGGAGAATAGCAGAGAG[C/T]GCGGAGGTGCTACTGTGCCCAAACAGACGCTCATGCATGA |
G |
G |
C___2986605_10 |
rs1244413 |
|
upstream
regulatory element binding protein 1 |
UREB1 |
Intron |
X |
52588869 |
0.48 |
0.1 |
0.4 |
0.48 |
hCV2986605 |
TCCAAATTCTCAAATTCAGTGGCTCACACTCCATTTTAAG[A/T]AGTATAGGAACAACTTACATATTTTTTATTGTAACTTTCT |
A |
T |
C___2986602_10 |
rs414923 |
|
upstream
regulatory element binding protein 1 |
UREB1 |
|
X |
52613580 |
0.47 |
0.04 |
0.4 |
0.48 |
hCV2986602 |
ACAGAGTTTGGAAAGTCAAGGTTACAGAGAAGAGAGTAAA[A/G]GAAGGCAGAAGGTCATCACAGTCCCTGGGCCCAAATGCCA |
C |
T |
C___2220617_10 |
rs198508 |
|
upstream
regulatory element binding protein 1 |
UREB1 |
|
X |
52634666 |
0.48 |
0.14 |
0.4 |
0.48 |
hCV2220617 |
GTCAGAACATTTAATTAAAGTATGAAATATTAGTGTGTTT[A/G]TATCAGCCTAAAAGTAGGGTGATGTGAATTCTGTCAGATG |
T |
C |
C___2462706_10 |
rs2036658 |
|
upstream
regulatory element binding protein 1 |
UREB1 |
|
X |
52649123 |
0.48 |
0.05 |
0.36 |
0.45 |
hCV2462706 |
TTTGCCTGTACGACCTGTATCCATTCAATCAGCAGGCATT[C/G]AAGGAAGAGTTTGTGAAAAATTCAGAATACGTTCTAAAAC |
C |
G |
C__11600056_10 |
|
|
KIAA1111
protein |
KIAA1111 |
Intron |
X |
52943179 |
0.1 |
0.08 |
0.09 |
0.1 |
hCV11600056 |
GTTTTTATTGGGGAGTGAATTCTTGGAGGTCCTTTGCCAT[G/T]TTTACTGATGTCGCCCATCATAACATCTCATCCTTAATAC |
T |
T |
C___2511911_10 |
|
|
|
|
|
X |
53082680 |
0.03 |
0.27 |
0.1 |
0.1 |
hCV2511911 |
TCCTAGGTGTCGTTTAGCACGAGCAGTTATTCTAGGACAA[G/A]CAATACTACATTTACTGCAAAAGGCAAGCACTAACTGGTT |
T |
T |
C__15982277_10 |
rs3021284 |
|
protein
kinase, lysine deficient 3 |
PRKWNK3 |
Intron |
X |
53247068 |
0.03 |
0.47 |
0.1 |
0.12 |
hCV15982277 |
GACTTACACTTGATGATAACCCAATTTACCTCTGTACAAA[T/A]TTTTAAAACTAATCGTACTCTAAAAAACAATGGCTCAAAA |
A |
A |
C____343355_10 |
|
|
faciogenital
dysplasia (Aarskog-Scott syndrome)|hypothetical protein DT1P1A10 |
FGD1|DT1P1A10 |
Silent
Mutation |
X |
53442940 |
0.02 |
0.35 |
0.12 |
0.03 |
hCV343355 |
TGTCTTCATCTTCCCTGTTTGTTGAGTTCAACAGTTTGAA[A/G]GTCTCCAGCGTCTGTTCATGCTTCAGGAGGGTGGAGTTGA |
C |
C |
C___2490547_10 |
rs3830137 |
|
faciogenital
dysplasia (Aarskog-Scott syndrome)|hypothetical protein DT1P1A10 |
FGD1|DT1P1A10 |
Intron |
X |
53448624 |
0.15 |
0.14 |
0.43 |
0.38 |
hCV2490547 |
GGAACAATCTCTGGGCCTGGAATGCCTCAGCATATCTGAA[C/G]AAAAGGGAGGTAGGCGCTGGAGGAAAGGCATAGGCAAGGA |
G |
G |
C___2220570_1_ |
rs743974 |
IMS-JST023860 |
melanoma
antigen, family D, 2 |
MAGED2 |
|
X |
53801748 |
0.27 |
0.29 |
0.48 |
0.36 |
hCV2220570 |
CACCCTCTGGGATCTGGAGAAAACCTGCCTTAAGGACCGG[A/C]TCGTACCGGATCCATCCGGCTGGGAAGGGAGGGGACTGGA |
T |
T |
C___2462523_1_ |
rs2071932 |
IMS-JST007723 |
melanoma
antigen, family D, 2 |
MAGED2 |
|
X |
53804868 |
0.27 |
0.45 |
0.48 |
0.36 |
hCV2462523 |
CTGATGTGTACCCCGAAATCATTGAACGAGCAGGCTATTC[C/T]TTGGAGAAGGTGAAGGGGCAGCCCTGGGGGATGGGCACAG |
G |
G |
C___2220572_1_ |
rs763183 |
IMS-JST007722 |
melanoma
antigen, family D, 2 |
MAGED2 |
|
X |
53806804 |
0.27 |
0.46 |
0.48 |
0.36 |
hCV2220572 |
GTGAAGCAGAAGTAAGTATCTCTGTCTGGTGTTCATGTGT[C/T]CCATGCATTTGGCCTATTTCAGAACTGAGTGATAAAGCCG |
G |
G |
C__15875637_10 |
rs2281383 |
|
trophinin |
TRO |
|
X |
53915164 |
0.23 |
0.04 |
0.48 |
0.43 |
hCV15875637 |
GGGCATTGAAGAATGGTTCTTTTGGGATAGAGGTGGGCCT[A/G]AGATGGGGGGTGGGGGCGCCTCTAGTCGGTGCGCATGCGC |
C |
T |
C___2462993_10 |
rs983823 |
|
aminolevulinate,
delta-, synthase 2 (sideroblastic/hypochromic anemia) |
ALAS2 |
Intron |
X |
54023117 |
0.45 |
0.07 |
0.45 |
0.47 |
hCV2462993 |
GTCAGCACCCAATCTGTACTCCCAGAGGTGAAAAGGGCCA[A/G]CTGCAACTCTACCCCAGCAGACAGCCAGAAAACACTCATT |
C |
T |
C___2483074_10 |
rs2473057 |
|
|
|
|
X |
54477297 |
0.4 |
0.27 |
0.47 |
0.29 |
hCV2483074 |
CCCAATAGGTCCACAAAGAATGGCGGGAAAATGAGGGTGC[C/T]GAGCAGAAAAATAAACTACAGCTCTTCAATAAACACTGTT |
A |
A |
C___2483075_10 |
rs3002630 |
|
|
|
|
X |
54479105 |
0.39 |
0.16 |
0.48 |
0.28 |
hCV2483075 |
TAAACACATTTTGTCTTTTTGTCTTGAATTATTCTAAACT[C/T]GCCTCTTTTAAAACTTTTCTCTAAAATCTGAATTGCATTC |
G |
G |
C___2027206_10 |
|
|
Ras-related
GTP binding B|GTP-binding protein ragB |
RRAGB|RAGB |
Intron |
X |
54714742 |
0.38 |
0.49 |
0.37 |
0.2 |
hCV2027206 |
CAGCCACACTTAATTGAACTGCTGGTAGTCCCTCTGATTG[T/C]TCCCAGCCGTCTGGGAGGTCCTGCATCTGTGCCATTGTTT |
C |
C |
C__11875954_10 |
|
|
Ras-related
GTP binding B|GTP-binding protein ragB |
RRAGB|RAGB |
Intron |
X |
54725199 |
0.5 |
0.05 |
0.36 |
0.2 |
hCV11875954 |
GCATAGTGCCTAACACACTGTGGTTAGCACTTGAACTGGT[A/G]CATACCAGTTTCCTAAGTCAATCTAATGAAAGCAGCAACC |
G |
G |
C__15785102_10 |
rs2375630 |
|
Kruppel-like
factor 8 |
KLF8 |
Intron |
X |
55231775 |
|
|
0.48 |
0.17 |
hCV15785102 |
GGGGAGGGAGGGAGAGGCTCATCAACTCTAGGCAATTATT[T/G]CCAAGAGAGAATGCTGGTTCAGTATCTTCTGATTAGTCAA |
G |
G |
C___7626113_10 |
rs1033565 |
|
Kruppel-like
factor 8 |
KLF8 |
Intron |
X |
55258307 |
0.45 |
0.06 |
0.45 |
0.16 |
hCV7626113 |
CATGCAAGCAATGTAAAAAAGAAATCTCTATTCATTTCAC[A/C]TGGAAGGAATACATGGTGCTGGGAGAAATAAGGCAGGAGT |
A |
A |
C__16073480_10 |
|
|
ubiquilin
2 |
UBQLN2 |
|
X |
55551381 |
0.43 |
0.11 |
0.45 |
0.21 |
hCV16073480 |
CAATATTCACCTCTAGTCAAATTACAGCCCTCAAGTGTAT[A/G]AGCCCAATGTAGCCAGATCATTTAATTTTGAAAGAGAATT |
G |
G |
C__11876406_10 |
|
|
|
|
|
X |
55986653 |
0.37 |
0.28 |
0.47 |
0.26 |
hCV11876406 |
AAAACCTACTCCATGTCTGCAGATACCAGCCAGAGCTATT[G/A]GAGACAAGAGAGACCCTAATGCCACTGATGACTAAAACCT |
A |
A |
C__11876403_10 |
|
|
|
|
|
X |
55986682 |
0.35 |
0.05 |
0.47 |
0.27 |
hCV11876403 |
CCAGAGCTATTGGAGACAAGAGAGACCCTAATGCCACTGA[G/T]GACTAAAACCTTTCACTTAAGCTCCACCAGAAATCTTGAT |
T |
T |
C___2474531_10 |
rs512119 |
|
|
|
|
X |
56161028 |
0.36 |
0.12 |
0.48 |
0.28 |
hCV2474531 |
AAAAAAATATATACTAGGTATTGTATAGTGGTAGGAGCAT[T/C]TACCTACTTGGGCAAGCTTTGGCCCAGTGACACCAACTTT |
C |
C |
C___2226112_10 |
rs549872 |
|
hypothetical
protein FLJ31204 |
FLJ31204 |
|
X |
56226327 |
0.36 |
0.06 |
0.41 |
0.25 |
hCV2226112 |
CTCATGAGATATAGGAATGCCTACAACCAGGTCTATGGTA[C/T]TATGTAGATCAATAACTGTCTTATGAGGAGTAGCTAGCCA |
C |
C |
C__16029393_10 |
rs2499550 |
|
hypothetical
protein FLJ31204 |
FLJ31204 |
|
X |
56276073 |
0.39 |
0.07 |
0.4 |
0.25 |
hCV16029393 |
TTTTCTGTTACTGTTCTGAAAGTGTAGGCTCCTCTCCCAC[A/T]GAAGTGCTGTCTGTAGACCTCTGTTTGGCACTTGCGAGCT |
T |
T |
C__15817830_10 |
rs2116364 |
|
hypothetical
protein FLJ31204 |
FLJ31204 |
Intron |
X |
56361915 |
0.37 |
0.35 |
0.45 |
0.27 |
hCV15817830 |
TATTGCACTCACTGGAATCAAAGCCAGCATGCTCTACCCA[A/G]TCAAGCCCTAGGAAACATCAGCAGGTAAAAGTATCTCCAC |
C |
C |
C___7468598_10 |
rs1431674 |
|
hypothetical
protein FLJ31204 |
FLJ31204 |
Intron |
X |
56446737 |
0.36 |
0.05 |
0.43 |
0.27 |
hCV7468598 |
CAGAAAAACTGCAGGATAGGTGATTCCACAACCCCCACCA[G/C]CACTCATAGCCAGGCAGCTAGAACTTCCAGCCCAGCAGTC |
G |
G |
C___3206217_1_ |
rs1048358 |
IMS-JST064358 |
hypothetical
protein FLJ31204 |
FLJ31204 |
UTR
3 |
X |
56482230 |
0.37 |
0.06 |
0.41 |
0.27 |
hCV3206217 |
TTTGTGTTCGTGTGGTGGTGTTTCTATTAATTGGGTGAAA[C/T]CAAGCACCAGCAGACAAGCAGAGAAACAACTGGGGAATTT |
A |
A |
C___2490706_20 |
rs3814295 |
|
zinc
finger, X-linked, duplicated A |
ZXDA |
|
X |
56899189 |
|
|
0.21 |
0.11 |
hCV2490706 |
GAAAATAATAATAATCTATTTAAGAGGACTTAACTAATGA[C/T]AACACATTTCTAAAATGGCTTAAAATCTTTCTAAAATACT |
A |
A |
C___2495667_10 |
|
|
moesin |
MSN |
Intron |
X |
63794198 |
|
|
0 |
0.5 |
hCV2495667 |
AGGAGCTGACCCGGATGGGGTAGCATTTCAAGATGTAGTC[G/C]CCAGAAGAGAACTGTTTATATGCCTAGATCCCTGCCTAAG |
G |
C |
C____994054_10 |
|
|
oligophrenin
1 |
OPHN1 |
|
X |
66130635 |
0.4 |
0.08 |
0.36 |
0.23 |
hCV994054 |
TTTTATTTTGTGAAGTGAAGGATTTGTGTTTTAGTTGGCA[G/A]TTGTTAAGTCCTTGGCTTGCCATTTTTCAAAAAGTAAAAA |
T |
T |
C___3179918_10 |
rs2182721 |
|
oligophrenin
1 |
OPHN1 |
Intron |
X |
66134630 |
0.05 |
0.41 |
0.33 |
0.25 |
hCV3179918 |
CTCTCGGGCCTTTAAGGAAACCAGGAACATGCTTTCTGAT[G/A]TTATAACAGATGCCAAGAGGCTACCTTAGTGTCTGTAGAT |
C |
C |
C___8814358_10 |
rs1410127 |
|
oligophrenin
1 |
OPHN1 |
Intron |
X |
66147172 |
0.4 |
0.39 |
0.35 |
0.22 |
hCV8814358 |
TTGCTTTTTTCCATGACAGTCAACTTTAAAATAAGAATCA[A/G]TAGTGTTTGCTGATGGAATTTTATCAAGGATCCTTTTCTG |
T |
T |
C___3179941_10 |
|
|
oligophrenin
1 |
OPHN1 |
Intron |
X |
66230202 |
|
|
0.44 |
0.27 |
hCV3179941 |
CCCAGAAGGAATGCAGGTATTCAGCATAAACCACATTGTA[C/T]AGGCATTCTAGGCATAGTGAGTCATGTTGTCAGTTCTAGT |
A |
A |
C___3179943_10 |
|
|
oligophrenin
1 |
OPHN1 |
Intron |
X |
66231906 |
0.13 |
0.38 |
0.36 |
0.44 |
hCV3179943 |
ATGCAATAACAGTTTGTGATAGGTGATATGAATGATAACC[A/G]AGATGTAAGCTGGTTTTCATCAACCTATATCATTTCTTTT |
C |
C |
C___3179948_10 |
rs1041214 |
|
oligophrenin
1 |
OPHN1 |
Intron |
X |
66241191 |
0.12 |
0.2 |
0.37 |
0.43 |
hCV3179948 |
ATAGTAGACCAGTTATAAAATGCACTATCTAAAAAGGTAT[G/C]CTTCACATTTATGATCCCGGTATTTGCATTCTGTGTCAAA |
C |
C |
C___2010821_10 |
|
|
oligophrenin
1 |
OPHN1 |
Intron |
X |
66262330 |
0.11 |
0.1 |
0.21 |
0.14 |
hCV2010821 |
AGGAGAAGGAGATTTAAGGCTTTTTAGAGGCAGATTACAA[C/G]AGAGTCATCATGAGGCTTACATGAGTCATGAGGTAGGATG |
G |
G |
C__15950375_10 |
|
|
oligophrenin
1 |
OPHN1 |
Intron |
X |
66298605 |
0.19 |
0.11 |
0.2 |
0.11 |
hCV15950375 |
CCTAGCCAATTTGTTAGAATATACTGGTGTGGATCACAAA[C/T]ATTTAGTATATCAGACTGTTCTTGCTCTTCCACTTTCACA |
A |
A |
C___3178384_10 |
|
|
oligophrenin
1 |
OPHN1 |
Intron |
X |
66384566 |
0.13 |
0.11 |
0.21 |
0.11 |
hCV3178384 |
TTACTTATGATAGGAAGATATTCCTGCACAGAAATAGTAT[C/G]TTGGACATACTTTTATATTATCCTTTAAGTCTTTTTCTCT |
C |
C |
C__12056643_10 |
|
|
START
domain containing 8 |
STARD8 |
Intron |
X |
66791583 |
0.11 |
0.47 |
0.46 |
0.25 |
hCV12056643 |
CGGTGACTGCTCTCCACTGTGGTTTGAGTGGAAAGTATTG[A/G]ACTAACGGTCAGGTGAACTACCTTCTGGCCTTAGCTCCAT |
T |
T |
C___8875714_10 |
rs792953 |
|
|
|
|
X |
66848351 |
0.36 |
0.38 |
0.14 |
0.14 |
hCV8875714 |
TTTCTGATGGCCTTCCCAATGCCAGGGTGCCAAAGTCTTC[A/C]CTAATGTTCTCTTCTGCCCTCAGTGGATGGCCCAGGTGGG |
G |
G |
C___8875720_10 |
rs792952 |
|
|
|
|
X |
66849914 |
0.28 |
0.09 |
0.18 |
0.16 |
hCV8875720 |
GCTGGGTTGTCAATGCAGCCAGTCATAAGATAACGGTAGA[G/C]TCATAATAAAGGAAAGTTTCCACCTCTCTATACCCACCTT |
C |
C |
C____793204_10 |
rs241386 |
|
ephrin-B1 |
EFNB1 |
|
X |
66910325 |
0.3 |
0.31 |
0.23 |
0.35 |
hCV793204 |
TAGCTCTGAGCCCTCTCTGGACTCCGAGCTAGCATCCTGC[A/C]TCCCACCCAACCATGGAGGTTAAAGGGTCAGGTTCTGGGC |
T |
T |
C___8875740_10 |
rs697500 |
|
ephrin-B1 |
EFNB1 |
|
X |
66911859 |
|
|
0.46 |
0.39 |
hCV8875740 |
CTTGTCTGCAGTCATCTCTAGCCTGCCCCATGCCTCCTAT[C/T]TTCCTCCTAGAAGACCTACTACCTGTACCTGCACATCTCA |
G |
A |
C___8875751_10 |
|
|
ephrin-B1 |
EFNB1 |
Intron |
X |
66920298 |
0.22 |
0.36 |
0.16 |
0.09 |
hCV8875751 |
CACGCCCAAGAGGGGCTGCTATGGTCTGCGGGGTAAGGAA[C/T]CCAGAATGTGGCTGGTGAGCACCCCCGTATCTCAGCTCCT |
A |
A |
C____793195_10 |
rs241396 |
|
ephrin-B1 |
EFNB1 |
|
X |
66936316 |
0.33 |
0.26 |
0.5 |
0.38 |
hCV793195 |
GCTGCTAGAGTCTGGCTGGGGAGGAGCATGGATTCTGGGT[G/A]GGAGAAATACTCATTCATTATTCATTGGCTCTTTACTGAG |
C |
T |
C___1945903_10 |
rs1171940 |
|
TED
protein |
TED |
|
X |
67588056 |
0.31 |
0.09 |
0.18 |
0.14 |
hCV1945903 |
CCATTTATCACAGGAGCACAATATAACAATAACTTACCCA[G/C]ACAGTTCCCGCTGCACACAAAGAAGAAGTGCTAGCAAACC |
C |
C |
C__12056678_10 |
rs2031732 |
|
TED
protein |
TED |
|
X |
67619632 |
0.28 |
0.36 |
0.19 |
0.25 |
hCV12056678 |
GAGGCTGGCAGACTAGAACTGAAGGCTGCAACAAAAGCAA[G/T]AACTGGCAATCCCCAGGCCATGTAGAGCCTACAGACTTGT |
A |
A |
C___2005410_10 |
|
|
TED
protein |
TED |
|
X |
67625418 |
0.48 |
0.28 |
0.07 |
0.08 |
hCV2005410 |
CCCTGAGCTCCCTTTAGTCCCGGGCCTGGCTGGACGGGAC[C/G]GGCCGGCTCAGGGCTGCGGTCGCGAGCTCTGTCGTTGGGG |
G |
G |
C___2005411_10 |
|
|
TED
protein |
TED |
|
X |
67625581 |
0.43 |
0.43 |
0.39 |
0.33 |
hCV2005411 |
ATCTGGGACACATGGCAGGAGGGTGGAAAGGGCCACTGGA[G/C]GAGTCCCAGAAGATTGGCTTCTTGCTCCAGGGGCCGGGAG |
G |
G |
C___8524807_10 |
rs1327346 |
|
|
|
|
X |
67701886 |
0.09 |
0.1 |
0.16 |
0.26 |
hCV8524807 |
TGCAGCAGTTTTGATTGGAGAACGTATGTCTTCAGTGAGT[A/T]GACAGGGAAACCGAGGGCCAGAATGAAGTGGATTTGTACA |
T |
T |
C___3176112_10 |
rs3811374 |
|
|
|
|
X |
67702196 |
0 |
0.47 |
0.11 |
0.24 |
hCV3176112 |
TGAAACCATGCCTGCTGTGTTTGCAATTCAATGGCTCGCC[C/T]GAAGAAAAGGAGACCCAGGAGCCTGGGAACTATGGGAATG |
A |
A |
C__11230363_10 |
|
|
ectodermal
dysplasia 1, anhidrotic |
ED1 |
Intron |
X |
68045654 |
0.04 |
0.19 |
0.34 |
0.48 |
hCV11230363 |
TTAGGGAAAGGAGGAAATTATTTTCTTTAAGAGAAAACTT[C/G]GGAGGTTAGATGAAGAGGTAAACCTTAGAAGCCATTAGAC |
C |
C |
C__11230395_10 |
|
|
ectodermal
dysplasia 1, anhidrotic |
ED1 |
Intron |
X |
68091990 |
0.43 |
0.11 |
0.28 |
0.41 |
hCV11230395 |
AACGAATGACGAAGAAAGTGGTAAACCTGGGAAGTAAACC[G/A]AGATTCTGACTCCAAGCTCATTGTACCTTCCATTGAATCA |
T |
T |
C___8815226_10 |
rs1327479 |
|
ectodermal
dysplasia 1, anhidrotic |
ED1 |
Intron |
X |
68111541 |
0.11 |
0.35 |
0.03 |
0.11 |
hCV8815226 |
AACACCTCATGATATAAAAGCCCAGAGACGTTTGTACTTA[C/G]AAACATACCCTATGTAGTGTTAGATGAAAGAATATACACA |
G |
G |
C___2008084_10 |
rs3795170 |
|
ectodermal
dysplasia 1, anhidrotic |
ED1 |
|
X |
68125306 |
0.45 |
0.16 |
0.45 |
0.26 |
hCV2008084 |
TTTGTTTACCTCCAGGGTTCCTAGCTCTTTCCTGTTCAGC[C/A]AAAGAAATTTGGCTCAGGATGGATGAAGGGGGAAATAGGC |
G |
T |
C___2008083_1_ |
rs2281932 |
IMS-JST030736 |
ectodermal
dysplasia 1, anhidrotic |
ED1 |
|
X |
68127727 |
0.36 |
0.03 |
0.19 |
0.45 |
hCV2008083 |
ACCATTTTACCCATTTCCTGTCCCTGAGCAAACAACGCCC[G/A]AAATACCCTCTGCTACCCACTAGCCCTCACTCAGTTTCTG |
T |
T |
C___8815233_10 |
rs1327476 |
|
|
|
|
X |
68141451 |
0.47 |
0.29 |
0.42 |
0.33 |
hCV8815233 |
TTTTTTTTTGCCTTCCATCACTAATGTCCTGCTTTGGTTT[A/C]TTAGGCAGGCTCTCATCCCCTGATCATTCTTAGTTTGCTA |
T |
G |
C___1945937_10 |
|
|
immunoglobulin
(CD79A) binding protein 1 |
IGBP1 |
Intron |
X |
68252266 |
0.11 |
0.38 |
0.05 |
0.02 |
hCV1945937 |
AATATATCGCATGTTAAAAAATAGTACGAAAGGATGCTCT[A/G]AGTGGTTTCCACAAGAAGGCAAAAATCATAAAAGGTGCCC |
T |
T |
C___1945925_10 |
|
|
FLJ25989
protein |
FLJ25989 |
Intron |
X |
68286356 |
|
|
0.14 |
0.05 |
hCV1945925 |
TCCCAGAGGAGGAGAGTTCTGCCTGCAGTCCTCAGGTCAC[A/G]TGAGGGGCCTCCTTCTGACACCTCAGAACTGTAAGTACTG |
T |
T |
C___8815385_10 |
rs1152182 |
|
FLJ25989
protein |
FLJ25989 |
Intron |
X |
68290512 |
|
|
0.4 |
0.32 |
hCV8815385 |
TCTTTCCTTGCAATCTGCTTAGCCATATTAAGTGTGCCTC[G/A]TACTCTCTCATCTCTGTGTCTTTGTACATTCTGCTCCCTC |
T |
C |
C___1945911_10 |
rs1152190 |
|
pyrimidinergic
receptor P2Y, G-protein coupled, 4 |
P2RY4 |
|
X |
68343132 |
0.21 |
0.32 |
0.38 |
0.44 |
hCV1945911 |
CCTTCTTGTGATCTCTTAAGAGAGTTACCTTGCCTCCTGC[A/G]AAACTGAGAAGCTCTAACGCTTCAACTTCCAGTTATCATT |
C |
C |
C___8815434_10 |
|
|
arrestin
3, retinal (X-arrestin)|pyrimidinergic receptor P2Y, G-protein coupled, 4 |
ARR3|P2RY4 |
Mis-sense
Mutation |
X |
68345733 |
|
|
0.42 |
0.42 |
hCV8815434 |
GGCTGCCTCGTGCCCAACCTGTTCTTTGTCACAACCAGCA[A/C]CAAAGGGACCACCGTCCTGTGCCATGACACCACTCGGCCT |
T |
T |
C__11771830_10 |
rs2030244 |
|
kinesin
family member 4A |
KIF4A |
Intron |
X |
68432505 |
0.43 |
0.23 |
0.47 |
0.44 |
hCV11771830 |
ACTGCACTTTGCTTACATTGCTGATATAAAAGAAAGCACA[C/T]GAGAGAGGATTCCCAATTTTCCTTGCCTTCAACCCTCGCC |
A |
A |
C__15752992_10 |
rs2296542 |
|
osteoblast
differentiation promoting factor|hypothetical protein FLJ20207 |
OBDPF|FLJ20207 |
Intron |
X |
68519553 |
0.08 |
0.37 |
0.14 |
0.14 |
hCV15752992 |
GAAAGTTCTTACCAGTTTTCCCTCTCTTCTTAACAAATCT[C/T]CTGTGGGGAGAAAAGCTTCCCATTATGAGTTCAGCTAGCT |
A |
A |
C___9696842_1_ |
rs2274310 |
|
discs,
large homolog 3 (neuroendocrine-dlg, Drosophila) |
DLG3 |
Intron |
X |
68540693 |
|
|
0.3 |
0.15 |
hCV9696842 |
TTCCAACCTTGCCCCTAAAACAAGGCCTAAAGGATACGAC[C/A]TCTCTAGTGTAACAATTATCTTCATAAAGGTCAAATGCCA |
G |
G |
C___9696852_10 |
rs1543568 |
|
discs,
large homolog 3 (neuroendocrine-dlg, Drosophila) |
DLG3 |
Intron |
X |
68543535 |
0.45 |
0.16 |
0.33 |
0.33 |
hCV9696852 |
AAATACCCACCGTGATGTAATCCTCTGAAGAACCACACTT[G/A]TTTATAAATTGATCAACATGGAGTCCTTATTTTTAAAAAC |
T |
T |
C___9696879_10 |
|
|
discs,
large homolog 3 (neuroendocrine-dlg, Drosophila) |
DLG3 |
Intron |
X |
68570096 |
0.45 |
0.16 |
0.32 |
0.33 |
hCV9696879 |
ACCCAAACTGAAAAAGGGTTCCCTCACTTTAACCACCTGC[C/T]GCTTAAATCTTTTCTGGGTAGATGGCGAACTGCCAGAGGG |
A |
A |
C__11678009_1_ |
rs1886890 |
IMS-JST050771 |
discs,
large homolog 3 (neuroendocrine-dlg, Drosophila) |
DLG3 |
Intron |
X |
68585105 |
0.45 |
0.17 |
0.31 |
0.32 |
hCV11678009 |
GAGATAGGTTAGCACCATATGATCTGCCTCCTTCTGTACA[G/A]TACTCCCCGTACCCCTCCCCTGCCAGGACACAGCCTTATC |
T |
T |
C__16181574_10 |
rs2274311 |
|
discs,
large homolog 3 (neuroendocrine-dlg, Drosophila) |
DLG3 |
Intron |
X |
68586366 |
|
|
0.31 |
0.35 |
hCV16181574 |
|
#N/A |
#N/A |
C__25641168_10 |
|
|
testis
expressed sequence 11 |
TEX11 |
Intron |
X |
68638709 |
0 |
0.31 |
0.17 |
0.07 |
hCV25641168 |
ATTAAACTTTCAGTTAATTTTAAAGAACTGAACTGTCTTG[T/C]GTACTATAAATTATATACAATAATGCTTTCTGATATGAGT |
G |
G |
C___1945838_10 |
|
|
testis
expressed sequence 11 |
TEX11 |
Intron |
X |
68705086 |
0.23 |
0.44 |
0.16 |
0.03 |
hCV1945838 |
TGTCCAGGTTCAACTTCAGAGGTTACAAGAGGAATATGTC[C/T]AGGTTCAACTCATTTCTTTTTGCTGAGTCCCCAGATGCCC |
G |
G |
C__11677989_10 |
rs2025553 |
|
testis
expressed sequence 11 |
TEX11 |
Intron |
X |
68738383 |
0.37 |
0.3 |
0.33 |
0.14 |
hCV11677989 |
TTTCAGCAGGAGGGTTGGTCTGACATATCTAACTTACTCT[A/G]TTTCCAGAAGTATAACTCACTGTTGCATTAGCATTCTAGA |
T |
T |
C__25595147_10 |
|
|
interleukin
2 receptor, gamma (severe combined immunodeficiency)|myeloid/lymphoid or
mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7 |
IL2RG|MLLT7 |
Intron |
X |
69188422 |
|
|
0.41 |
0.33 |
hCV25595147 |
TCGCCCAGATCATGGGACTAGCTGGGCACCTAGGAGTGGT[C/A]ATAGGCTATGAGGTGCTGTGGTGATTAGGGGGTACTGTAC |
C |
C |
C__11890886_10 |
|
|
gap
junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy,
X-linked) |
GJB1 |
|
X |
69308181 |
0.45 |
0.08 |
0.23 |
0.27 |
hCV11890886 |
GTCATTTCCTGACCCCAGTGCATGCTCCACAGCAGAGCAA[C/G]TGGTTGTGGAAGAAGCCTCATATTCAGCCCTGGGTGGTCC |
C |
C |
C___2310825_10 |
rs752081 |
|
gap
junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy,
X-linked)|zinc finger protein 261 |
GJB1|ZNF261 |
|
X |
69316593 |
0.29 |
0.49 |
0.19 |
0.22 |
hCV2310825 |
TGTGATAAGCGCTCTTATCACATACACCACAGTCATATTG[C/T]GGGAATTCAGAGTGGAGGTCTGAATTGGAGAGTCTCTCCA |
C |
C |
C___2310826_1_ |
rs749789 |
IMS-JST068080 |
zinc
finger protein 261 |
ZNF261 |
Intron |
X |
69335545 |
0.02 |
0.24 |
0.16 |
0.27 |
hCV2310826 |
AATCCTTGCTGCCCGACCTCAGTCCCAACCACATCTCCCC[A/G]TGGATTTTCTGTTCGTCTCTTACACTGCCTTACACCTTCT |
G |
G |
C___2027278_10 |
|
|
O-linked
N-acetylglucosamine (GlcNAc) transferase
(UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl
transferase)|hypothetical protein FLJ23071 |
OGT|FLJ23071 |
Intron |
X |
69628072 |
|
|
0.1 |
0.08 |
hCV2027278 |
GCAACTTCCCCCACAACACATCTCCCCATTTCCTAACAAA[T/G]CATTGTATGCACAATAAGCACTCACATATTTAAATGTGAC |
T |
T |
C__11533296_1_ |
rs3736670 |
|
O-linked
N-acetylglucosamine (GlcNAc) transferase
(UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl
transferase)|hypothetical protein FLJ23071 |
OGT|FLJ23071 |
Intron |
X |
69643521 |
|
|
0.44 |
0.48 |
hCV11533296 |
AATACAAAAATCTTTAACCCACTGTAATGCTAACTTATTC[T/C]GTTGTTATTTAAAGCCATTTTAGCATCTGCAATGTGCCGA |
C |
T |
C___2180823_10 |
rs3091304 |
|
acidic
repeat containing|chemokine (C-X-C motif) receptor 3 |
ACRC|CXCR3 |
|
X |
69709590 |
0.14 |
0.13 |
0.35 |
0.44 |
hCV2180823 |
TCCTCCTCTCTGTCAGAGTCGGCTGCTTCACAACCTCTCT[C/T]GCAGCTCCTCCAAATGCCTCTTGGAGCACTACTCCAAAAG |
A |
A |
C__15976812_10 |
|
|
Cbp/p300-interacting
transactivator, withGlu/Asp-rich carboxy-terminal domain, 1 |
CITED1 |
Intron |
X |
70390441 |
0.1 |
0.01 |
0.41 |
0.47 |
hCV15976812 |
CATACCTAGCTGGATTCAAAAGGCTTCCAAAGAAGTGATT[T/C]CCTGGCTCAAGTGCCAAAGGATAAGGGAATGAAGGCAAAA |
C |
T |
C____620002_10 |
rs663282 |
|
Cbp/p300-interacting
transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 |
CITED1 |
|
X |
70398914 |
0.11 |
0.01 |
0.47 |
0.47 |
hCV620002 |
CAGTTGCCTCTTACTCCAGAGGTATTGTGTGCTGCAAATT[G/C]TCAGTAAGAGTGGCTAGTCTTTCCTGATGGGCCACCGAGT |
C |
G |
C____620022_1_ |
rs660392 |
IMS-JST049846 |
histone
deacetylase 8 |
HDAC8 |
UTR
3 |
X |
70416303 |
0.18 |
0.26 |
0.48 |
0.44 |
hCV620022 |
AGGGCTCCACCTGGATGGTCCTGAGGCCCAAACCCTGCCT[C/G]TCAGCTGCCTCCTGCCCTACAAACTGGTGACTGCTCTCAT |
C |
G |
C____620028_10 |
rs576502 |
|
histone
deacetylase 8 |
HDAC8 |
Intron |
X |
70428164 |
0.06 |
0.03 |
0.26 |
0.25 |
hCV620028 |
AACCAAGATGCTTGTACTTGGGTAGTTCTCTGTCAGAAAT[T/C]TTGGCGGGGTATAAAAGTGACCCTTTTGAAAGTTGAATCT |
C |
C |
C__11891418_10 |
rs2984296 |
|
histone
deacetylase 8 |
HDAC8 |
Intron |
X |
70477352 |
0 |
0.41 |
0.32 |
0.07 |
hCV11891418 |
AGTCACATAGCTGCCAAGATTTGGAACTGAAGAAGTATAT[T/C]TTTAATATGTTTTAGAGTCACAATGAAACAAGATTCCCTG |
C |
C |
C___2202806_10 |
rs3012642 |
|
histone
deacetylase 8 |
HDAC8 |
Intron |
X |
70495703 |
0 |
0.34 |
0.3 |
0.11 |
hCV2202806 |
TTCCTTCTGAGAACCACACTTTCACATTCATTTGCTTTTG[A/G]ACTTTTCTACGTGTATATTCGTGACTCAAACTCAAATTGC |
A |
A |
C___2202808_10 |
|
|
histone
deacetylase 8 |
HDAC8 |
Intron |
X |
70517972 |
0 |
0.16 |
0.3 |
0.11 |
hCV2202808 |
GGCCAAAATCCATGGTTTCCAACTTCACATGCACTTGCAG[C/G]TTTCTTGTTTATCCTTTTACTTGTCTCTGGTCAGCTTCCT |
G |
G |
C___2202815_10 |
|
|
histone
deacetylase 8 |
HDAC8 |
Intron |
X |
70562179 |
|
|
0.3 |
0.16 |
hCV2202815 |
TGACTCATTCTGCAACAACTCAACCTGCCAGGGGATGCAG[G/C]ATATGGTAAATGCCTCAGTGACTTCTGAATATCTATTACA |
C |
C |
C__25764568_10 |
|
|
histone
deacetylase 8|phosphorylase kinase, alpha 1 (muscle) |
HDAC8|PHKA1 |
Silent
Mutation |
X |
70658703 |
0 |
0.38 |
0.33 |
0.26 |
hCV25764568 |
TAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCAT[C/T]TGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCA |
C |
C |
C___1215980_10 |
|
|
phosphorylase
kinase, alpha 1 (muscle) |
PHKA1 |
Intron |
X |
70686482 |
|
|
0.32 |
0.23 |
hCV1215980 |
GATCACAGCAGTTACCATAAAAGACGGTGACATCAAATCT[G/A]TACCCAGGGGATGACCACCATTGGACTATGAGAACAAATT |
A |
A |
C__11911913_1_ |
rs1883070 |
|
phosphorylase
kinase, alpha 1 (muscle) |
PHKA1 |
Intron |
X |
70696164 |
|
|
0.32 |
0.23 |
hCV11911913 |
ACCAACATTCTTCCACTAGGTGTCTCTGATAGAGGTGAAC[A/C]TATGTAGGACATTATCATCCACTGACAGATTAGGGCAAGG |
A |
A |
C__22275042_10 |
|
|
phosphorylase
kinase, alpha 1 (muscle) |
PHKA1 |
Intron |
X |
70705672 |
0 |
0.13 |
0.33 |
0.26 |
hCV22275042 |
GAAACCTTCCAGATGTATAATACAGCAATCTAGTTTTCCC[A/G]AAGTCTGACCAGACAAACTTGCCCAATGTAAAAGTGAACT |
A |
A |
C___1215985_10 |
rs2887426 |
|
phosphorylase
kinase, alpha 1 (muscle) |
PHKA1 |
Intron |
X |
70734299 |
0 |
0.38 |
0.3 |
0.25 |
hCV1215985 |
GGGTGAAGTGGAGGAGTTCTTACATCATGGCTTGTATTTC[G/A]TCTATGGTATAGGAGGTGAGATCATCTTCTGAGAGTGAGG |
A |
A |
C__15963664_10 |
rs2272781 |
IMS-JST068083 |
phosphorylase
kinase, alpha 1 (muscle) |
PHKA1 |
Intron |
X |
70742962 |
0 |
0.37 |
0.3 |
0.23 |
hCV15963664 |
TTAGATGTATATCTTTAGCTCAGAGGTATTATAATACGGG[C/T]TTTCATTACTGATTGTTTTAGAGAAGGTGTTCAGGAAGCA |
T |
T |
C___8337335_10 |
rs1011191 |
|
hypothetical
protein MGC34827|DMRT-like family C1 |
MGC34827|DMRTC1 |
|
X |
71002921 |
|
|
0.5 |
0.49 |
hCV8337335 |
ATTGCTGTAATGGAAGGATCCTTGCCTCAGATCAACCAGG[C/G]ACTGTATCTTGGCTCCCTCTTGTGCTGGCGATGCAACCTC |
C |
C |
C__11533680_10 |
rs2885665 |
|
nucleosome
assembly protein 1-like 2 |
NAP1L2 |
|
X |
71302139 |
0.13 |
0.01 |
0.26 |
0.06 |
hCV11533680 |
GCAACTGGTTAATTGTGGTTAATTGTCTGGTATGTTTACT[T/A]GTCACGTAGTTGTATACACCATACTAGTTTTTCATCACAG |
A |
A |
C___2552352_10 |
rs239906 |
|
|
|
|
X |
71325191 |
0.33 |
0.09 |
0.07 |
0 |
hCV2552352 |
TAAAATCAGTTGCCTGGGCAAAAGCAAGAGATATACACAT[A/G]AGCAAACCGGAACAATGAAAAGAGTTGGATAAAAACTCTG |
A |
A |
C__11533715_10 |
|
|
|
|
|
X |
72192603 |
0.18 |
0.45 |
0.12 |
0.03 |
hCV11533715 |
CACTAGGTATGTGTGCTTGAAACCAAGCACCAAGGCCAAC[T/A]TCTCTGGCATCCACCAATTCATTTACCTTATATAGTCCAA |
A |
A |
C___2466899_10 |
|
|
|
|
|
X |
72290982 |
0.09 |
0.15 |
0.14 |
0.03 |
hCV2466899 |
CTCACTGATGATGGTGGCAGTTCCCAAGCTAGAGATAGCA[G/A]TCTTGGTGGCCATTGTGTTCATTGGCTTCACAGGATGAAG |
A |
A |
C___2466894_10 |
rs1341326 |
|
|
|
|
X |
72306258 |
|
|
0.11 |
0.03 |
hCV2466894 |
TTTTGCAAAGGTATATTCTAAACTCAATGTTCTTCGGGAA[A/G]TTTTCCAATTAAGGCTCTGAGTATTGATATTTGGGATTTA |
A |
A |
C___3124359_10 |
rs693642 |
|
|
|
|
X |
72452548 |
0.32 |
0.36 |
0.11 |
0.03 |
hCV3124359 |
CTGCCCACCCCCCACCACCCCGATTTAATAATACTATTGC[T/C]GCTAGTACCAGGGAGATTGTGGGGAAAACTCATTTGTAGC |
T |
T |
C___2260914_10 |
rs499282 |
|
solute
carrier family 16 (monocarboxylic acid transporters), member 2 (putative
transporter) |
SLC16A2 |
|
X |
72503407 |
0.25 |
0.37 |
0.1 |
0.03 |
hCV2260914 |
CCTTCACCAACCATTCTCTTAACTATCTTCCAGTTGAGAT[T/C]CCATACCGTTCTTGACTCTCCAGAGTAGGTTAAACAAAAC |
C |
C |
C____945356_10 |
|
|
solute
carrier family 16 (monocarboxylic acid transporters), member 2 (putative
transporter) |
SLC16A2 |
Intron |
X |
72536326 |
0.18 |
0.45 |
0.05 |
0.03 |
hCV945356 |
TAACCTACTTAGAGGGGTGTGTGGCTAAAGGAGTCAATGC[A/G]CTGAGAAGTCGCACAGATGCTGCAGAGCTGAACAAGAGAG |
A |
A |
C___3130520_10 |
|
|
solute
carrier family 16 (monocarboxylic acid transporters), member 2 (putative
transporter) |
SLC16A2 |
Intron |
X |
72549721 |
0.11 |
0.03 |
0.09 |
0.06 |
hCV3130520 |
CCCCATCCATCCTCTCCCTCTGCAGTAGTCCCTGGAAAAA[T/C]CTGAAGAATCTCTAGAGTTGTGTATATCTCTTCTTTCCCA |
C |
C |
C___3130511_10 |
|
|
solute
carrier family 16 (monocarboxylic acid transporters), member 2 (putative
transporter) |
SLC16A2 |
Intron |
X |
72588953 |
0.12 |
0.23 |
0.05 |
0.03 |
hCV3130511 |
ATCCGCAAGGGTATGGAGGCAGGACTGAAGCTGCCACTGA[C/T]GAGGCTGGTATCTGAATTTTTTAGGGAGGGTAGGAAGGAG |
C |
C |
C___9202863_10 |
|
|
|
|
|
X |
73305789 |
0.06 |
0.21 |
0.09 |
0.06 |
hCV9202863 |
TGAACTCCATTCAGAGGCAAATGAAATGAGCTGTTAGGCA[A/G]AGAATTCAATTAGAAGGCAGAAGACCTGTCAATACTTGAA |
A |
A |
C__11962418_10 |
rs1938012 |
|
hepatocellular
carcinoma-associated protein HCA3 |
HCA3 |
|
X |
73866740 |
0.13 |
0.13 |
0.23 |
0.08 |
hCV11962418 |
TTCATACACACACAAGCCATCCAGAAATAAACATACAAAC[A/C]AAGCAAAAGCTGAGCTAGACTGGCATATGTGGATTTCAAG |
C |
C |
C___9475503_10 |
rs1343879 |
|
hepatocellular
carcinoma-associated protein HCA3 |
HCA3 |
Nonsense
Mutation |
X |
73871320 |
|
|
0.19 |
0.08 |
hCV9475503 |
GGGGTCTATCCAGCAGTCCGAGATGCTGGAGTTTCTCAGA[T/G]AGTACTCAGATCAGTTCCCTGAGATCCTCAGACGAGCCTC |
G |
G |
C___2570469_10 |
|
|
|
|
|
X |
74211028 |
|
|
0.23 |
0.13 |
hCV2570469 |
TCTGTACACATTCAAAGAGCAAACTTGCCTACGTAGACCA[C/A]CCAGGAATAGTCAGACTTGTATCACAAGAATTTTTCCCAA |
A |
A |
C____349322_10 |
|
|
|
|
|
X |
74224673 |
0.29 |
0.24 |
0.23 |
0.13 |
hCV349322 |
AAGCTGCCAAATATTTCTGTCTTGACCTGATACCTTCCCC[A/G]TACCTTGAACGCTACTGCCTGACTTCTTGAGGAGCCAAAC |
G |
G |
C___7423640_10 |
rs1024502 |
|
hypothetical
protein MGC874|hypothetical protein LOC51260 |
MGC874|LOC51260 |
|
X |
74258612 |
0 |
0.45 |
0.07 |
0.06 |
hCV7423640 |
ACTTTTATGATCACTCTAACACAACATAGAAGATTAATTT[G/C]AGGAAGACAAAATTGGAGACAGAGACACCAGTTTGAAGGC |
C |
C |
C__11891535_1_ |
rs2301862 |
IMS-JST058065 |
hypothetical
protein MGC874|hypothetical protein LOC51260 |
MGC874|LOC51260 |
Intron |
X |
74261655 |
0.13 |
0.16 |
0.19 |
0.25 |
hCV11891535 |
TTTATGGTTCTCAGGGCAGAAGATCTCTTCAGGAAGTGTC[G/A]ACAGTCTACATCCTGGATGAAATCATGACACAGTTTAAGG |
A |
A |
C__25636013_10 |
|
|
|
|
|
X |
74422157 |
0 |
0.4 |
0.08 |
0.14 |
hCV25636013 |
GCCTTATGGATGAAAAATTTGGCATTCATCCCAGCAGCTG[T/C]CATGGAAGGATTTTGGGGGAACATAGTGACTCAAGTGTGG |
T |
T |
C__25636021_10 |
|
|
|
|
|
X |
74422426 |
|
|
0.26 |
0.35 |
hCV25636021 |
TTATTCTGTGACTGCCAGTTATAAGATTGTAGTGGTAACT[T/G]CAGGAGTCCTTCAGCAAGAGGGGGAGAGGCGTCTCAATTT |
G |
G |
C__25643808_10 |
|
|
hepatocellular
carcinoma-associated protein HCA1 |
KIAA1587 |
Mis-sense
Mutation |
X |
74515810 |
0 |
0.38 |
0.08 |
0.14 |
hCV25643808 |
TTGGTCCCTCACCGGGAGTGGGCGGCACGGAGGTGCTCAA[G/C]TCCTCAGTGGCGGTGGGCGGCACGGAGGTGCTCAGTCCCC |
G |
G |
C___2263588_10 |
rs757310 |
|
|
|
|
X |
74798676 |
0.12 |
0.19 |
0.21 |
0.19 |
hCV2263588 |
GAAGTCCAGTCAATAAGTTCTTAATGAAAACTCAGAGATT[C/A]TTAGCTTAAAGGCAAGAGCAGTCAACTAAAAACTGTAAGA |
A |
A |
C___7627181_10 |
rs929084 |
|
|
|
|
X |
74804735 |
0.13 |
0.18 |
0.21 |
0.19 |
hCV7627181 |
GATATTTCTCAAGGAAAGATATAGAAGGCCCTTGGCTTGA[A/G]TCATTTCACATTGAATCAAAGTAAAGCAAAGTAAAATCTA |
A |
A |
C___2224130_10 |
rs757315 |
|
|
|
|
X |
74882749 |
|
|
0.34 |
0.33 |
hCV2224130 |
TATGAGAAACAATCCAGCTTGGAGGCTTTTCGGCTTCACT[C/G]TGAATTAATGGAAAGTATTATTCTATCATGTCTACACATA |
C |
C |
C___2524275_10 |
|
|
|
|
|
X |
76080992 |
0.23 |
0.26 |
0.3 |
0.3 |
hCV2524275 |
ATAGCCCAAAGAAAGCTGAATTCCCTACTCCGGTACCTAT[A/T]GTCCCTGATAATATGACCCCATATCATTCTTGCTATTTGA |
A |
A |
C__15910649_10 |
rs2643593 |
|
|
|
|
X |
76097311 |
0.14 |
0.25 |
0.3 |
0.3 |
hCV15910649 |
ATTCTGATACATTTCCATCCTTGCCTGGGTGCAAAACCTA[C/T]GGAAATCAAAGGAAGACCATCTGTTGAATTGCACAGGACA |
C |
C |
C__15874525_10 |
rs2268538 |
IMS-JST022388 |
phosphoglycerate
kinase 1 |
PGK1 |
Intron |
X |
76117543 |
0.14 |
0.11 |
0.39 |
0.46 |
hCV15874525 |
CAAAACAGGACTAGCCAATCATTTCAAGGCTTTGGGTTAG[T/C]GTGTGCTAAATGAAACTTTATTAGGTCCAGAGGGAGAAAA |
T |
C |
C___2524295_10 |
|
|
TAF9-like
RNA polymerase II, TATA box binding protein (TBP)-associated factor,
31kDa|phosphoglycerate kinase 1 |
TAF9L|PGK1 |
Intron |
X |
76145996 |
0.11 |
0.23 |
0.35 |
0.42 |
hCV2524295 |
TCTGTGTTTGGGAGAGAAAGCAGTAAAACCCGGATTTCTC[A/G]GTACCTTTGGGCTTTATTCCCTTAGACTTTCTTCACCTTT |
G |
G |
C__15910625_10 |
rs2643581 |
|
TAF9-like
RNA polymerase II, TATA box binding protein (TBP)-associated factor,
31kDa|phosphoglycerate kinase 1 |
TAF9L|PGK1 |
|
X |
76151774 |
0.11 |
0.23 |
0.35 |
0.41 |
hCV15910625 |
AAAAGTCATTCGGGCTGTTCTGTGGGTGAGGGGCTGGGAA[G/A]GGTGTAACTGGGAGGCAAGGAAGGGTCCTGTGTTGGCCTC |
A |
A |
C___1846133_10 |
rs2035190 |
|
cysteinyl
leukotriene receptor 1 |
CYSLTR1 |
|
X |
76282700 |
0.1 |
0.22 |
0.43 |
0.36 |
hCV1846133 |
CATAAATGGAAAGGACCTCTAAGGCATAGTAATAGCTTGT[A/G]CCCATTTATTTTTAATATACCTGTGACCTGGCCGTTTCTA |
C |
C |
C____904846_30 |
rs320995 |
|
cysteinyl
leukotriene receptor 1 |
CYSLTR1 |
Silent
Mutation |
X |
76284191 |
|
|
0.35 |
0.4 |
hCV904846 |
TCTTTTCTGGGGGTAACTTTAGGAAAAGGCTGTCTACATT[T/C]AGAAAGCATTCTTTGTCCAGCGTGACTTATGTACCCAGAA |
G |
G |
C___2503664_1_ |
|
|
purinergic
receptor P2Y, G-protein coupled, 10 |
P2RY10 |
Intron |
X |
76959648 |
0.47 |
0.34 |
0.03 |
0.09 |
hCV2503664 |
AATCCCCTAAGAAGTGTAGTTGTAGCAGAGGACTAGAATA[T/C]CTAGAGCAGTAATTTTTAAAGTTAAAGGGTAGAAAATAAG |
C |
C |
C___2503663_10 |
rs2742205 |
|
purinergic
receptor P2Y, G-protein coupled, 10 |
P2RY10 |
Intron |
X |
76966191 |
0.5 |
0.36 |
0.27 |
0.31 |
hCV2503663 |
CTTCAAAAATTCTCCATAAGCATGACCGTTTTTACTGGTT[G/A]TTATTAGTATAATTCATCTGAATCTTAACAGTTTGTGATT |
A |
A |
C___1194411_10 |
|
|
putative
purinergic receptor |
FKSG79 |
|
X |
77177718 |
0.42 |
0.32 |
0.05 |
0.1 |
hCV1194411 |
ATGGTCTTTTGCAAACAATTTTATACAGCTCCATTTTGTT[G/A]ACTACTGTTTAACTTGTGATTCATAGTGGTTTGCACACCT |
A |
A |
C___1194409_10 |
|
|
putative
purinergic receptor |
FKSG79 |
|
X |
77186771 |
|
|
0.21 |
0.36 |
hCV1194409 |
AGTGAGAATAGAGTCTTAGGGGACTTTTATCCATGCATGT[A/G]AGAACACTAAAAAAGATCATCAAGTCTATCGGTGTGTTGA |
A |
A |
C___8818273_10 |
rs1337127 |
|
putative
purinergic receptor |
FKSG79 |
|
X |
77191685 |
0.39 |
0.42 |
0.3 |
0.49 |
hCV8818273 |
AAGGGAGTGTTGCTTCCTCTCTAGGAACAGAGCAAAGAAA[A/G]CATTGGTGAGACACTGATAAATAGTCATTCCACATATCCT |
G |
A |
C___8879128_10 |
rs1736672 |
|
integral
membrane protein 2A |
ITM2A |
|
X |
77371409 |
|
|
0.07 |
0.13 |
hCV8879128 |
CTATACACAGCTATAATGGATCACTAAGGACTAACCTTGG[A/T]TAAGATGTTGATAGCTTTTAAGAACTTCAAATGCTGTGAT |
A |
A |
C___3157649_10 |
rs2056918 |
|
integral
membrane protein 2A |
ITM2A |
|
X |
77385052 |
|
|
0.04 |
0.1 |
hCV3157649 |
ATAATGGGAAGAACTGTACTATCCTATGCTATATACCTTC[A/G]ATACAAAGTACAATAGATGTGCCTTGGAGGGTTCCAGTTA |
G |
G |
C___3202744_10 |
|
|
|
|
|
X |
78022730 |
|
|
0.33 |
0.37 |
hCV3202744 |
CGGTGCTCCTCTGAATCCCTATTACCCAGTTATATCATCC[G/A]ACCTGTGATTCAGCTTCCCAGTATCTTCCTGGACCAGCAT |
A |
A |
C___3202750_10 |
rs195291 |
|
T-box
22 |
TBX22 |
Intron |
X |
78041282 |
|
|
0.1 |
0.1 |
hCV3202750 |
ACTACCACTATTACTTTTAGCACTACTACCATGTATCATG[A/T]ATTAAGCATTCATTTGCTCAAATACTGTGCTAGGCACTTG |
T |
T |
C___2008028_10 |
|
|
|
|
|
X |
78305145 |
0.13 |
0.15 |
0 |
0.09 |
hCV2008028 |
TTGTCCCCTAAGTATTATCTTAACACAGCGGCCAGAGAGA[A/G]CATTTTAAAAACAGAAGCCAGATCATGTCACTTGTCTGTT |
A |
A |
C____293031_10 |
|
|
hypothetical
protein MGC26999 |
MGC26999 |
|
X |
78458841 |
0.11 |
0.17 |
0 |
0.1 |
hCV293031 |
GAAGACATTTCTTTCTTAGAAAGGTCATTTTATGCATTTA[G/C]AGGGGCTAATTATTTTGCTCTGAGCTACTAAAATGTATAT |
C |
C |
C__16143303_10 |
rs2175647 |
|
|
|
|
X |
78658221 |
0.15 |
0.23 |
0.2 |
0.24 |
hCV16143303 |
GAAGAAAACATTATGAATAATGGACTGTTTTCTGGCTTGT[A/G]CAGTATGAATAGAGAACACAGGAGAAAGAAGGAGTTGGGA |
A |
A |
C___1536267_10 |
|
|
|
|
|
X |
78659043 |
0.13 |
0.23 |
0.19 |
0.24 |
hCV1536267 |
TCATACATGCATTAAGGTTAGATGTGGAATTGATAGTTGG[T/C]CAGAGGGCTTAAAGCACTTGCACATTCATTTTGCTCTTTC |
T |
T |
C___1536271_10 |
rs2063579 |
|
hypothetical
protein FLJ38568 |
FLJ38568 |
|
X |
78681120 |
0.27 |
0.41 |
0.35 |
0.46 |
hCV1536271 |
TGGAGCTTATTCATTTTTAAGGATTTTTGTGGTTGATTTT[T/C]GTCATGTTGCAATTCTAGTTAGAATTTGTATAACAACATG |
T |
T |
C___1536273_10 |
|
|
hypothetical
protein FLJ38568 |
FLJ38568 |
|
X |
78682501 |
0.27 |
0.31 |
0.21 |
0.29 |
hCV1536273 |
ATATTTATGACTTACAACTTTTAACAGCTGAGTTATATGT[C/A]CCTGACATTTTAAAATGTATAGTAAGATTACCTACATTGT |
C |
C |
C__11878017_10 |
|
|
|
|
|
X |
78749697 |
|
|
0.21 |
0.3 |
hCV11878017 |
GTTTTGTACAATAGGTATGTATTAAACAGTCCATAACATG[A/T]TTTCTCATTTAAAACAATTCTATTAAACAATCCGTAACCT |
A |
A |
C__11614860_10 |
rs1954611 |
|
nucleosomal
binding protein 1 |
NSBP1 |
|
X |
79134194 |
0.16 |
0.24 |
0.41 |
0.21 |
hCV11614860 |
CCAAGTAATTTATTCATCAATCTCCACCTCAACCCTGAAA[C/A]CTTTAGGTCTCAGAAACTGACACTGAAAGGCACCTATAAG |
T |
T |
C__12119135_10 |
rs1538351 |
|
SH3
domain binding glutamic acid-rich protein like |
SH3BGRL |
Intron |
X |
79225981 |
0.17 |
0.26 |
0.47 |
0.22 |
hCV12119135 |
ATTTGCTTTCATCCTTTCCTATCACAAATATTCATGTTCT[C/G]TCTCTGTCACAATTTCCAAATATTAATTGTTGAATATTTC |
C |
C |
C___9696594_10 |
|
|
SH3
domain binding glutamic acid-rich protein like |
SH3BGRL |
Intron |
X |
79262617 |
0.14 |
0.05 |
0.45 |
0.28 |
hCV9696594 |
CCTTTAACAGTTAAAAACATATTTTAAGCAGTTATTCTAA[T/C]AAATATTTTTGTCTAATACATTTTCCAGCATTCAAGTCTA |
A |
A |
C__12119137_10 |
rs2039717 |
|
SH3
domain binding glutamic acid-rich protein like |
SH3BGRL |
Intron |
X |
79287238 |
0.14 |
0.11 |
0.43 |
0.22 |
hCV12119137 |
ATACATGCATATATGCATAAAAGTTGTGTTTTTGTCTTTC[C/T]AAGTTGCTCGTGATTGTGATTAAATAATTTTCTCTCTCAT |
A |
A |
C___8814691_10 |
rs1372758 |
|
SH3
domain binding glutamic acid-rich protein like |
SH3BGRL |
Intron |
X |
79296299 |
0.42 |
0.45 |
0.38 |
0.24 |
hCV8814691 |
TCATAACATTCACTATTCATTTACTCTATTCCTACTCCTG[G/A]GCTTAAGCAATGATGGAAGAAACATGGTAACCAAGATGTC |
T |
T |
C___2989967_10 |
rs1321193 |
|
|
|
|
X |
80543740 |
0.23 |
0.42 |
0.19 |
0.02 |
hCV2989967 |
ATTTCCATTGAATATAAGCACAACTATGAACATATTGTGA[G/A]GTACCCAATTGACAGAGGGAAACATAAATAAAAATTTGAT |
G |
G |
C___1272211_10 |
rs1923010 |
|
|
|
|
X |
80601533 |
0.11 |
0.01 |
0.44 |
0.44 |
hCV1272211 |
GGAAGGCAGCATATAGCCTTGCCAATTCATTCACCAGGAA[A/C]TGCTATTTCCATTTCTTCTCATCCCTGCTTTCAGGCTGAT |
A |
A |
C__15879685_10 |
rs2275784 |
|
ribosomal
protein S6 kinase, 90kDa, polypeptide 6 |
RPS6KA6 |
Intron |
X |
82172171 |
0.16 |
0.11 |
0.42 |
0.47 |
hCV15879685 |
|
#N/A |
#N/A |
C___2465317_10 |
|
|
hypothetical
protein FLJ30678 |
FLJ30678 |
Intron |
X |
82517744 |
0.19 |
0.37 |
0.18 |
0.07 |
hCV2465317 |
AAATATGACAATGGTAGGATATATCTCACGGAAACAATGC[G/A]ACACAGAAAACAATGGGGCAACATTCTTAATGTGCTGAAA |
G |
G |
C__25640020_10 |
rs3747422 |
|
AAIR8193 |
UNQ8193 |
|
X |
83030700 |
0.3 |
0.14 |
0.33 |
0.32 |
hCV25640020 |
GAGCAGAGAGGGACAAATCAGTTCGACTAGGCTTCCCTTA[C/G]GACAGCCCCACCCCGTTACGCCCCTTGCCTGCCAGTTACC |
G |
G |
C___2218559_10 |
rs608011 |
|
AAIR8193 |
UNQ8193 |
Intron |
X |
83075759 |
0.3 |
0.16 |
0.34 |
0.32 |
hCV2218559 |
CTACAGATTTCATGGTTAAAAAAAATGATTGTCTCATGGT[G/C]CTACAGAGTTTTCTATTAAAGGGAGATTTAATTATGTTCA |
G |
G |
C___2480243_10 |
|
|
zinc
finger protein 6 (CMPX1) |
ZNF6 |
Intron |
X |
83277674 |
0.17 |
0.38 |
0.19 |
0.23 |
hCV2480243 |
GGAACTGCATATCAAAAATAGAGTGAGTTACTGCCTTTTA[C/A]GAGTTCAGAATTTACCAAGGACAAATGGAAACTTAACATA |
A |
A |
C___2480251_10 |
|
|
premature
ovarian failure 1B|zinc finger protein 6 (CMPX1) |
POF1B|ZNF6 |
Intron |
X |
83307030 |
0.15 |
0.31 |
0.47 |
0.37 |
hCV2480251 |
AATATTTGAGTCAACAAAAAAATTCAAAAAGTTTCTTTAG[C/A]GCTGAAGCCCTTCTTTAACTACAATCCAGCCATCAATCTT |
A |
A |
C_____12385_1_ |
|
|
premature
ovarian failure 1B |
POF1B |
Intron |
X |
83394486 |
0 |
0.07 |
0.07 |
0.05 |
hCV12385 |
TTTGTTCCTCTTTTTTATATGGAAGTCTTCTTCATGTATG[G/T]AAGCAATCTTTAGACCCCCATAAGACTTTACACATTCACA |
G |
G |
C___1087446_10 |
rs717857 |
|
|
|
|
X |
83807362 |
|
|
0.29 |
0.32 |
hCV1087446 |
GTTTCTTTGAGCTCTCTTCACCAACACTTTTAGAAGTTCA[A/G]GGCTACTAACCTAGCACGGTATGAGCACCAATTTCTCACT |
C |
C |
C___2187650_10 |
rs1013033 |
|
choroideremia
(Rab escort protein 1)|hypothetical protein FLJ38564 |
CHM|FLJ38564 |
|
X |
83878122 |
0.47 |
0.27 |
0.21 |
0.28 |
hCV2187650 |
CAACGTATGGTCATCAGCTACTGCTCTTTGGAGGACACTT[A/G]TCCTGTTTTCTTGTTTTCCTTTCATCATTTTTTTCTAACT |
C |
C |
C___8930975_10 |
rs1013032 |
|
choroideremia
(Rab escort protein 1)|hypothetical protein FLJ38564 |
CHM|FLJ38564 |
|
X |
83878552 |
0.48 |
0.43 |
0.19 |
0.28 |
hCV8930975 |
ACACTTCTGGGAGATGTCATTTATTAGAACCTCTGAAAAT[G/T]CCTCTACCTGCTTGAGTGCAGGCACATGATCACCTGCACC |
C |
C |
C___3119171_10 |
|
|
choroideremia
(Rab escort protein 1)|hypothetical protein FLJ38564 |
CHM|FLJ38564 |
IntronIntron |
X |
83958997 |
|
|
0.4 |
0.48 |
hCV3119171 |
CAACCTTGCAGATTAAATTAGAGCTTCTGTGCAGTTTGCT[C/A]CCCCTGGAAGATATCAAAGGAGCTATGGGTGACATATCTC |
G |
G |
C__16233523_10 |
rs2411872 |
|
choroideremia
(Rab escort protein 1)|hypothetical protein FLJ38564 |
CHM|FLJ38564 |
IntronIntron |
X |
83994896 |
0.4 |
0.04 |
0.05 |
0.14 |
hCV16233523 |
AACATCAAAGTAAAAGAATACAATGTCTGCAGCAAGTCGT[A/G]TTGGGTAAGAGAAGGTGCAAATGGCTGAAAAATAAATGGT |
C |
C |
C___3119186_10 |
|
|
choroideremia
(Rab escort protein 1)|hypothetical protein FLJ38564 |
CHM|FLJ38564 |
IntronIntron |
X |
84007318 |
0.23 |
0.11 |
0.09 |
0.06 |
hCV3119186 |
TGACTCAAAAAGTGCCTCTCATGATGACAAAGACACTGAT[G/A]TTGAAGATGCAGTGAAAATTCAGTTTGAATATTGTTGCAT |
C |
C |
C__11609484_10 |
rs2038192 |
|
choroideremia
(Rab escort protein 1)|hypothetical protein FLJ38564 |
CHM|FLJ38564 |
IntronIntron |
X |
84059847 |
|
|
0.09 |
0.19 |
hCV11609484 |
CTTGGGTCCTGATTTTAGCCTAGCTCCTTCATTTGATAAT[A/G]AAACATCTCTATTTCATCTAGACAGGTTTTTAGAAAATTG |
C |
C |
C__11609481_10 |
rs1883796 |
|
choroideremia
(Rab escort protein 1)|hypothetical protein FLJ38564 |
CHM|FLJ38564 |
IntronIntron |
X |
84072834 |
0.5 |
0.08 |
0.34 |
0.41 |
hCV11609481 |
CCTGAAAATAACTGCATGGCTGCAAATAACCTGGTTGTAG[C/T]TGCTATGAACAGATGTTGGATGAGAGCTGGAAAGAGCCAA |
G |
G |
C____575054_10 |
rs242844 |
|
dachshund
homolog 2 (Drosophila) |
DACH2 |
|
X |
84179409 |
0.38 |
0.24 |
0.39 |
0.16 |
hCV575054 |
TCTAGCAGTTGAAGCAGATATTATTTCTTAACTTATTTTC[C/T]AGGAAGACAACTGAATATTTTTATAATTGGCTAACAACAA |
A |
A |
C__11174058_10 |
|
|
dachshund
homolog 2 (Drosophila) |
DACH2 |
Intron |
X |
84771898 |
0.28 |
0.26 |
0.15 |
0.11 |
hCV11174058 |
AATCAGAGTGCTTGGGGCATCTTGCACATAGAGAGTTTTC[C/T]ATTGAAAACATTTACTTCCCAGTGCAAAATATCACAAAAA |
G |
G |
C____296668_10 |
|
|
dachshund
homolog 2 (Drosophila) |
DACH2 |
Intron |
X |
84793183 |
0.42 |
0.34 |
0.43 |
0.43 |
hCV296668 |
TTTTGTATTTATTTGGGTTGGGAGAGCCAGTTAACAAACA[C/T]AGCACACTACTATTTTAATAATTTGAATGCCAGGGTCATA |
A |
A |
C____296670_10 |
|
|
dachshund
homolog 2 (Drosophila) |
DACH2 |
Intron |
X |
84793375 |
0.44 |
0.43 |
0.43 |
0.44 |
hCV296670 |
CAAGGCTAGAGAGAGAATTTGAAGATGTGGTTAAAGCAGT[A/G]ATGTGTTGGAACTGGTTCACACCTCCTTGCAAGAGCTTAC |
C |
C |
C__11609625_10 |
rs1936030 |
|
dachshund
homolog 2 (Drosophila) |
DACH2 |
Intron |
X |
84806556 |
0.24 |
0.17 |
0.28 |
0.41 |
hCV11609625 |
GTCTCTACATTCAAAATATATCCAGAATCAGGCCACTTTT[C/T]ACCACTTCCATTGCTGCTACCCTGATCCAAGGCACTGCAA |
G |
G |
C____275860_10 |
|
|
dachshund
homolog 2 (Drosophila) |
DACH2 |
Intron |
X |
84838244 |
0.43 |
0.48 |
0.15 |
0.05 |
hCV275860 |
GGTTCTGGTTCCTATAGGTATGGAATATGGACTTCATTTT[C/T]CTATTGCAAGCAGCCTACATATGCAGTGTGCAGAGTCTTG |
A |
A |
C___2469174_10 |
|
|
kelch-like
4 (Drosophila) |
KLHL4 |
Intron |
X |
85587072 |
0.41 |
0.39 |
0.19 |
0.3 |
hCV2469174 |
AAGCATGAGGTATTTTTCTAGTACTCCTTTAATTACACTC[C/T]GCCTACTTAAAAGATACAACAAGAAGTCTTAAGGAAAGAT |
G |
G |
C___2469156_10 |
|
|
kelch-like
4 (Drosophila) |
KLHL4 |
Intron |
X |
85598812 |
|
|
0.18 |
0.32 |
hCV2469156 |
TGCCCCCTCAAGCCAAATAGCAGATTTTGTATTTTATTTT[G/T]CAGGATGTTATTGGGGGTTATTTTTTAATTCCAGTAAACA |
C |
C |
C____349069_10 |
|
|
kelch-like
4 (Drosophila) |
KLHL4 |
Intron |
X |
85624546 |
0.21 |
0.16 |
0.19 |
0.09 |
hCV349069 |
AAAGTTGGATTCCCAAGAAACAATGTTTACCACCTAGTAT[A/T]GCCCTTAGTTTCTACACGCAGAAAAACAAATATGAATCAA |
A |
A |
C__16188870_10 |
rs2294964 |
|
kelch-like
4 (Drosophila) |
KLHL4 |
Intron |
X |
85645958 |
|
|
0.2 |
0.25 |
hCV16188870 |
AAATATTTATATTTTGATTGGGTTTCACAAAATGATCCAT[C/T]TCTTGTGTCCTTCCCTTCTTCAGAGGTTAAAAAAGTTTAT |
A |
A |
C___7617447_10 |
rs2123558 |
|
TGFB-induced
factor 2-like, X-linked|TGFB-induced factor 2-like, Y-linked |
TGIF2LX|TGIF2LY |
|
X |
87950327 |
0.43 |
0.23 |
0.4 |
0.47 |
hCV7617447 |
AAAGGTGAACTCTTCTTGCTCTGAGCAGTGAAAAGTCTGC[A/G]TAAAGGTAAGAAAATTCCAAATGTTAATTTTCTCTTATTG |
G |
A |
C__10042658_10 |
|
|
TGFB-induced
factor 2-like, X-linked|TGFB-induced factor 2-like, Y-linked |
TGIF2LX|TGIF2LY |
|
X |
87951241 |
0.45 |
0.22 |
0.4 |
0.47 |
hCV10042658 |
GCCTGGCAAAAAGCATTTTCTGCATATGGATACATAGAAG[G/A]CTCTTATTCAAGGAAAGGACGTTTGCTATCTGGGTGGCAA |
A |
G |
C__15806185_10 |
rs2444438 |
|
TGFB-induced
factor 2-like, X-linked|TGFB-induced factor 2-like, Y-linked |
TGIF2LX|TGIF2LY |
|
X |
87957581 |
0.27 |
0.14 |
0.34 |
0.27 |
hCV15806185 |
AGAAGCCCTTTTCATGCCTTATTGCTTTAGTTGGTTAAAT[T/A]AACGAATGTAATAATAGAAACTTCCATATATTCTGGAGGA |
A |
A |
C___3005839_10 |
rs366862 |
|
|
|
|
X |
88382271 |
0.27 |
0.14 |
0.16 |
0.23 |
hCV3005839 |
GATATTTATCAGGTTTATGGAAAAGGAGAGGAAGTGTCCA[T/C]GTAGCATGTTACTATGCATGCCATTTAGTCTACCACTGAA |
C |
C |
C__11286838_10 |
|
|
|
|
|
X |
89444959 |
0.34 |
0.16 |
0.07 |
0.12 |
hCV11286838 |
AATTAAGGTATTTTTTGTGTTAAATACATAATTTTAAAAT[A/G]TTTGCTATGATAAATATAATGTTCTGTTACAGGTTTTCTA |
T |
T |
C___2918888_1Y |
rs2750827 |
|
protocadherin
11 X-linked |
PCDH11X |
|
X |
90525453 |
|
|
0.23 |
0.16 |
hCV2918888 |
GAAACTTTAAGTCAGGTTATTATATTGGCCATATAGTTAA[T/C]TTTACTATATATTAGTAACTAACATATAGCTTTAAGTTGA |
G |
G |
C__11862369_10 |
|
|
hypothetical
protein FLJ37659|nucleosome assembly protein 1-like 3 |
FLJ37659|NAP1L3 |
|
X |
91695281 |
0.44 |
0.33 |
0.43 |
0.45 |
hCV11862369 |
GTGGGCTCAAACACCTTATAAAGTGAAGATATATACCTTT[C/T]CCCAGAGCCTGCAATTCCTGATAAAAAATCAGCTTCTATC |
T |
C |
C___7421016_10 |
rs1419301 |
|
|
|
|
X |
92439890 |
0 |
0.26 |
0.05 |
0.09 |
hCV7421016 |
CACAGATCAAACTAACTGAAGCTTCTTTAAAAAGTTTTCT[G/C]TATCAGATCAGCACACATTCACATCTGTCAAAACTTGACA |
C |
C |
C__11778323_10 |
|
|
|
|
|
X |
92965966 |
|
|
0.41 |
0.38 |
hCV11778323 |
ACTCAAGAATAAGCTGGGACATTATTTAAACTTTTGAACA[G/T]ATTTGAATTACCTATTTTTTTAGTATGCAAAGTGGATATT |
G |
G |
C__16107569_10 |
rs2789451 |
|
|
|
|
X |
93023515 |
|
|
0.23 |
0.38 |
hCV16107569 |
TTTAGTTGAAAAACTGCATAACTTTTGAGATAAAAAATAA[T/C]GTGTACTATATGAATATATAATTTTATTTACTATTTCAGA |
T |
T |
C__11778203_10 |
rs2883235 |
|
|
|
|
X |
93044720 |
0.48 |
0.12 |
0.25 |
0.24 |
hCV11778203 |
TTAAGCTTATAATTTAAATTTGATCACATACAAAACTTCT[A/G]TACTTTTATTTCTATACCTCCCCATATTTTCATTTTGATG |
G |
G |
C__11382383_10 |
rs1166756 |
|
|
|
|
X |
93052267 |
0.49 |
0.18 |
0.48 |
0.37 |
hCV11382383 |
ATTCTGAATGTTCTAGAGGGCAACATAGCATAGAGTTAGC[C/G]CCTGCATTGACGATGACTCCAAAATATATAAACATGTGCT |
C |
G |
C____433277_10 |
|
|
|
|
|
X |
93065300 |
0.46 |
0.27 |
0.24 |
0.24 |
hCV433277 |
AACTAGATGTGCTTTAAACACTGATGAATTTCCAAATTTC[T/C]ATTTATTTAAGGCCTAATTTCTAGTCTTCCCATGAGGCCT |
T |
T |
C___7420781_10 |
rs980114 |
|
|
|
|
X |
93197370 |
0.28 |
0.49 |
0.46 |
0.49 |
hCV7420781 |
GGCCTCAGTTAACAGATACTAAGAAATAATTAAGTGCCCT[C/A]ACTTTTGGATGAAAGAAATAAAGTTCACATTGAGCATAAT |
A |
A |
C___9196824_10 |
rs2044112 |
|
|
|
|
X |
93250445 |
0.29 |
0.09 |
0.49 |
0.47 |
hCV9196824 |
TTGTTCAAAGCAATTGAGTTCATTTTCTTTCACTGTTGTC[A/G]GAACCTAGTGTGATTTTCTTTCATTAACAATGTATAGAAT |
G |
A |
C___7420808_10 |
rs1442511 |
|
|
|
|
X |
93251797 |
0.3 |
0.02 |
0.5 |
0.47 |
hCV7420808 |
TAACCTACTTTATTGATTTCAGGCAAGCAAATGCTTATGC[A/G]GAACTTAGGTCTTTGACTCTACCTGTGATTTTGCTTTTTG |
A |
G |
C___7455665_10 |
rs1573255 |
|
|
|
|
X |
93787319 |
0.26 |
0.13 |
0.03 |
0.06 |
hCV7455665 |
GCTACTGTGGTTCATTATATAGGTTCAGTGCATGGTCGGC[A/G]ATCTACAAGGTCTTCCTGATTCCAAATAACTCCCTCGACT |
G |
G |
C__11609200_10 |
rs1926119 |
|
|
|
|
X |
93887474 |
0.13 |
0.46 |
0.47 |
0.44 |
hCV11609200 |
TAGATCTCAGGATTATGGGGTCATAACAATTTAATCAACA[G/T]GATCATCAATCATTACCAAATAGTAGCTGTAGGAGAAGTG |
G |
G |
C__16125546_10 |
rs2806021 |
|
|
|
|
X |
94018262 |
0.06 |
0.07 |
0.5 |
0.45 |
hCV16125546 |
ATACTATGGTGAATGCATTTTTTCAAGTTACTGATTTGAA[A/C]GGTTTTCTGGATCTTGAAGTAGCTCTGAGTCATGATGAAA |
A |
A |
C___1898825_10 |
rs2761643 |
|
|
|
|
X |
94070600 |
0.02 |
0.39 |
0.02 |
0.06 |
hCV1898825 |
TAGAATGCTTTGTTCAGGGCATGTAACCTAAGGTGGCTCA[A/G]TCAGGGTAAAATGCTGTGACAGAAGAGTATTTTTGTTGTT |
G |
G |
C___8929931_10 |
rs1150304 |
|
|
|
|
X |
94340647 |
0.08 |
0.49 |
0.48 |
0.43 |
hCV8929931 |
AAACATTTATAAGATGACAGGCAGCTTTAACATTTATGAA[G/A]TTTCTGTGAACATATGAGCTTTCCTGAAAGCCTACATTTA |
A |
G |
C__11608887_10 |
rs1766316 |
|
|
|
|
X |
94349902 |
0.1 |
0.49 |
0.47 |
0.45 |
hCV11608887 |
AGATAGCTTTCCTGCTGGCCTGGCAAGGGAACTGAGGTAA[G/C]TCCCACTCTTGACCCTGATAAAACCTCAGTGCATCTAACT |
G |
C |
C__11173211_10 |
|
|
|
|
|
X |
94361903 |
0.08 |
0.4 |
0.47 |
0.45 |
hCV11173211 |
GTGGTCCTGGGACTTGAATATTTCTTTAGAGTTAGGATGG[C/T]ATAATGAGCTTTGGTGCTGTGTGAAACTGGTTTCAAATCC |
T |
C |
C__11173205_10 |
rs2787650 |
|
|
|
|
X |
94389734 |
0.32 |
0.14 |
0.48 |
0.39 |
hCV11173205 |
CACCAAAAGCAGCTCTAGTAGTAAATAATTCTCATGATTT[A/G]GGTTCTGCCTTCTGCTTTTACTTCTTCCTACCATAATTCT |
A |
G |
C___2219433_10 |
rs186766 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
94813963 |
|
|
0.39 |
0.3 |
hCV2219433 |
CTAAAAGATTGGTACTGCTACTGAAACAAATACACAAAAT[T/G]AGACAGGAAGTAGCCATAATTTTTCCTGCTTGCCTATTTT |
T |
T |
C____582256_10 |
rs233203 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
94894670 |
|
|
0.05 |
0.2 |
hCV582256 |
TGACATATTTGAAATCAAATAGTATCTTAGTGGGATACTC[T/C]TCTGGTTAATATTTAAAAGAGGAATGACTTGTTTATATTA |
T |
T |
C____202926_10 |
rs829303 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
94922471 |
|
|
0.19 |
0.47 |
hCV202926 |
TATCACAAGTGAAAAAATGAGCAAATGTGACATACGAGGA[A/G]TATCAAAGATGCTAAATCATACACACAAGGATCAGAGCCA |
A |
A |
C____249436_10 |
rs829285 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
94931051 |
0.45 |
0.15 |
0.4 |
0.28 |
hCV249436 |
TTTGAATGCATCAGTTTACCAGTTCTACCTCTGAGTGGTT[T/G]TGACTTCAATGTTGTGATAGATTACAATTGCCTTAGAAAC |
G |
G |
C___7454847_10 |
rs829293 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
94935219 |
0.43 |
0.3 |
0.17 |
0.48 |
hCV7454847 |
AAACTGACATTTCTCATGGACCTTACATTTATGAGGGACA[C/T]AGAACAGGCAGAGAATAATGAAGAACCAAACAGAAGGAAA |
T |
T |
C___7454897_10 |
rs1565828 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
94948473 |
0.42 |
0.47 |
0.39 |
0.27 |
hCV7454897 |
AGTCAAGGGAAGTAAAATTTTCAAGGAAGAAGGTGATCAA[C/T]AGTGCCAAGTGATCAAGATTGGAAAGAGGCCATTGGATTT |
T |
T |
C__11177298_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
94985070 |
0.43 |
0.13 |
0.4 |
0.28 |
hCV11177298 |
AACGGAAAGAGTCAGCAGTCATACTCTCAAACATTATACA[G/A]TGTGTACACATAGCAATGATCAACAAAAGCTAGACAAAGT |
G |
G |
C___8919790_10 |
rs1014982 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95004904 |
0.41 |
0.05 |
0.39 |
0.26 |
hCV8919790 |
TAAGAACAAAGCACACCTCTTTGTAGTTTTATACAGCAAT[A/G]TTACAATTTCCCACTGGATTTCAATGTAAATAATTTCTAT |
A |
A |
C___2500286_10 |
rs232370 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95013439 |
0.39 |
0.45 |
0.4 |
0.29 |
hCV2500286 |
TAAAGCAGGGCATATTTTCATTTCCTCTACAAAGATATCA[G/A]TGATGAATTTCAATGTGATAAGTAAAATATTGACATTCTA |
G |
G |
C___8919831_10 |
rs1494129 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95037978 |
|
|
0.33 |
0.22 |
hCV8919831 |
TTCATGTGTTTAATTTAAAAGGATAACAGGAACATATACA[T/C]GTAGGCAAATATGGGAATTACAGCAATTAATTAAGAGTTT |
T |
T |
C___2500291_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95044136 |
0.48 |
0.05 |
0.42 |
0.22 |
hCV2500291 |
TCAAACAAAGGAGAAAAAAGATAATTCTAAACAACTAATG[C/T]ATAGTAAATAAAATTCATAGAGAAAAATAAGACTAATGAT |
C |
C |
C___2500301_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95088925 |
0.39 |
0.03 |
0.4 |
0.22 |
hCV2500301 |
TATATCATTGAGGGCAAGGATCTTGCACATATTTGTAAAA[T/C]CTATCACTGTGCTAGGGATATATAAGTTCTTAGAATAAGT |
C |
C |
C____344815_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95091796 |
0.45 |
0.24 |
0.37 |
0.16 |
hCV344815 |
GCTTGGTGCAGATCCTACACACAATTCAGTTTAATGCTAC[A/G]TACATTAACCTTGCTGAGTAAGACTCAACAAAGTAACACC |
A |
A |
C___8919881_10 |
rs649487 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95107433 |
0.44 |
0.49 |
0.21 |
0.45 |
hCV8919881 |
TTTTGAGATAAAAATCACATTTGAGAAAACATAATCGTGT[A/G]GCAACCTATAAATACCACACATTGAGTACAGTGCTGGTTA |
G |
G |
C___2500306_10 |
rs495209 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95119703 |
0.26 |
0.39 |
0.22 |
0.43 |
hCV2500306 |
ACAGACAAAATAGGTTGACAGATATATGATACCCTGTTAA[C/T]GCTATATTCTGCTTTCATTAGATATCATCCTATCACGGCC |
C |
C |
C___2239005_10 |
rs605831 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95137523 |
|
|
0.5 |
0.49 |
hCV2239005 |
CCGGCAAATAGGGCATCTTACTTCTAACAATGATGCTCTT[A/C]TTTTCCCATTCAAGACCCCAAATCTTGAAGTGATATTCAA |
A |
C |
C___2239035_10 |
rs524376 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95170046 |
0.28 |
0.41 |
0.36 |
0.42 |
hCV2239035 |
GTAAATATGCTTCTAGTCAGAAAGCTGTATTTTTAAATCC[A/G]AAGATAAATTCTTTAGAAGAGCTATTACCAGAAAGTTGCC |
G |
G |
C___9867570_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95178516 |
0.44 |
0.43 |
0.38 |
0.46 |
hCV9867570 |
ACAGCAGCGACAGGTTATTGGTGAATATTTTAGGTCAGTA[T/A]GTGCCAAGGATTCAATGACATATAAGACAGCATAATATTG |
T |
A |
C___9867601_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95198258 |
0.42 |
0.17 |
0.27 |
0.45 |
hCV9867601 |
TGCAGACCGACCATTATCAGAGTATTTCTCTTCTGGACAT[A/C]TCCCAGTGGGCTAATTGTCAAAATCTTTAAGAATATGCTA |
A |
A |
C__11877801_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95214492 |
|
|
0.05 |
0.02 |
hCV11877801 |
TTGCCTATTTTTACCAGCGAACTGTCTATAATTCAATCAC[T/A]TTGCTACAAACTAGTTAAGGTACTCATCACATTTCATATG |
T |
T |
C__12119349_10 |
rs1925928 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95215254 |
0.44 |
0.07 |
0.36 |
0.4 |
hCV12119349 |
TCCATTGCTTCTGCTTCCTCCACTACTGCTTCTATTAAGT[G/A]AGCCCTTCCAATCTACCTTTCCCAGTCTCCTCAACCTCTT |
A |
A |
C__11877815_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95293729 |
0.44 |
0.07 |
0.36 |
0.31 |
hCV11877815 |
AGAAAAATTACTGCACTTTGCTGCATCTGTCAAAAATGAC[G/A]CGATAATTCTTTGAGTCAAAACAGGGTACATGAAATGTGA |
C |
C |
C___9187094_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95333435 |
0.49 |
0.07 |
0.31 |
0.33 |
hCV9187094 |
TTCCTTATCTCTGAACCAAATTCAGCATTACCAATACTGC[T/C]AGGTATCCTGGAACAACATCTCTTTTTCCATTTCCTTGCA |
A |
A |
C___2429993_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95388304 |
0.44 |
0.05 |
0.4 |
0.33 |
hCV2429993 |
GCTCAAGTTTTTCTGTAAGTACCTGAAAATAATTGATTTA[A/C]CTCTGCTTTTGAACGCACTAGCATATTTTGATGTTTATTC |
G |
G |
C___3064907_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95431921 |
0.47 |
0.19 |
0.45 |
0.32 |
hCV3064907 |
GTGGATTTATTTATTCAATTCTCAGTGAGTTACTGGCTGA[A/C]TCAAGGTTTTGGAAAAATAAACATGTATTCTCTATCTCTA |
G |
G |
C___1673300_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95433713 |
0.48 |
0.34 |
0.45 |
0.33 |
hCV1673300 |
GCAACTCATAAAAAGAACAAAATATTGCCTGGTCCTAAAT[C/T]TTTGCCAAGGAACCTTTAGTAACCTCCTTGCTCTCAACCA |
G |
G |
C____802503_10 |
rs719905 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95449800 |
0.47 |
0.15 |
0.45 |
0.33 |
hCV802503 |
GATGCTGGCAGAACACACAAGACTCCTGGGTCAGAGACAC[T/A]TAACTCTTGTTATTCATTCATGATACAGCAAGCAATATGA |
A |
A |
C___3064904_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95481052 |
0.48 |
0.08 |
0.42 |
0.31 |
hCV3064904 |
ATAGTTCTATCAAATTGGATTTTCTATTTTTTTCACCGTC[C/T]AGCAAATGGGAAACAGCATACATACCAGGATTGAGAGGTA |
A |
A |
C___3064899_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95496324 |
0.47 |
0.34 |
0.42 |
0.33 |
hCV3064899 |
AGTGCTGGCAATACGCAGTTCATTCCTTTATTATGTGACA[T/C]GTTTATCATGACCTGCATGATAACTAATGAAATAAATATG |
G |
G |
C____802502_10 |
rs716621 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95499871 |
0.46 |
0.34 |
0.41 |
0.31 |
hCV802502 |
TTCTCCACTTATATAAGTCCACCTAGTTCTTCCTGGTACA[G/A]CTAGTTGCTACATGAGTCCTGTTCTAACTATTCCAGATCT |
T |
T |
C___3064898_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95506568 |
0.48 |
0.33 |
0.43 |
0.34 |
hCV3064898 |
TTTGATCCCTTCCATTGCAAGCATTCTATGCTGTGAAACC[G/T]CAAGGCTGTAAACTATATGAGAGTAGGAGCCAATTTTTTT |
A |
A |
C___3064896_10 |
|
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95549561 |
0.48 |
0.35 |
0.43 |
0.33 |
hCV3064896 |
CCTTTTAGGCAAATGGAACCCTCATTTTTTTTTGTCCTTA[T/C]GGTCATTATTAATATTTTGTTTGTTCTTATTTTTGCTTGG |
A |
A |
C___8919988_10 |
rs897918 |
|
diaphanous
homolog 2 (Drosophila) |
DIAPH2 |
Intron |
X |
95581355 |
|
|
0.4 |
0.33 |
hCV8919988 |
CTGCTATAAGCTTTCCCATACCTTATACACTGAATAAATC[A/G]TGAAGGCTGATGGAATCCTGAAATGAACCCATAATCCAAT |
C |
C |
C___1161457_10 |
|
|
|
|
|
X |
95644341 |
|
|
0.23 |
0.16 |
hCV1161457 |
CTCTCCGAGACATTTGGCTGACAGTTATTGTCCCATTATT[G/T]CACTTTTAGAGAAACTACATTCTTCATCTTTGGCCCTTCG |
A |
A |
C__12119443_10 |
rs2038888 |
|
|
|
|
X |
96427808 |
0.38 |
0.1 |
0.26 |
0.26 |
hCV12119443 |
GCAGTATGTCATAGGATCAGAGAATCTCATGGATATAAGC[C/T]CACTACTAAAATCCCTTTTTTGTAAAGCTGGTCCCTTGAT |
G |
G |
C___7421751_10 |
rs1418327 |
|
|
|
|
X |
96633663 |
0.34 |
0.38 |
0.43 |
0.39 |
hCV7421751 |
TGCTTTCATCACTAGTGAATATTTCGTCCTTTAGAGTACT[G/C]AAGACCTTGAATATTATTTCTAATGTTTTTCAAAAGAGGC |
G |
G |
C___1784891_10 |
rs1335268 |
|
|
|
|
X |
98322740 |
0.27 |
0.31 |
0.1 |
0.17 |
hCV1784891 |
CTTGTCTACACTACAAAAAACAGTGGCGAGCTTATTAAAG[G/A]TGTCCAGAGCTTTTTTTTTTCACTTTTTGCTTTTTTAAAT |
A |
A |
C___1784882_10 |
|
|
|
|
|
X |
98370946 |
0.05 |
0.19 |
0 |
0.06 |
hCV1784882 |
AAGGAAAGACCAGGAGGCCAGTAACTGGAAAGCCATAATT[A/G]TAAGAAAATGAAGAGCAGGAGAGAGTGAAGCATTGACCTG |
G |
G |
C___2511113_10 |
|
|
tenomodulin
protein |
TNMD |
Intron |
X |
98619556 |
0.2 |
0.21 |
0.22 |
0.32 |
hCV2511113 |
GTTCCAATTTGTTTTTCTCTAGTTGAGTTGGTGAATATTT[G/C]ACCAGGTTAAACTAACATTCAGTCAATGGCATCAGCAGAG |
C |
C |
C___7423690_10 |
rs1155974 |
|
tenomodulin
protein |
TNMD |
Intron |
X |
98625138 |
0.39 |
0.28 |
0.3 |
0.34 |
hCV7423690 |
TGGAATTTGGCCTCCCTCATTCTGCACAGCATAGATTACT[T/C]TATTACCCAAGAGAGGTTATTCTCACCAATGTAAGCATCT |
C |
C |
C___7423701_10 |
rs1204384 |
|
tenomodulin
protein |
TNMD |
|
X |
98636707 |
0.34 |
0.27 |
0.22 |
0.35 |
hCV7423701 |
GTGCTCTCTACTGGTAAAATCAAGAGCTACAACTAGCATC[A/T]AAATTTTACTTTATGAAAACCTTATGGAAATAGGAATTCA |
A |
A |
C___2511122_10 |
rs1204400 |
|
sushi-repeat
protein|transmembrane 4 superfamily member 6 |
SRPUL|TM4SF6 |
Intron |
X |
98661266 |
0.38 |
0.46 |
0.24 |
0.3 |
hCV2511122 |
CTACAAAACCTTACTTTGGGAGGCTGTGCTACCACTTTAT[A/G]AGAACTCTCATTAATGAGCCTTTGCTACTCACCGAATGTT |
G |
G |
C___2511123_10 |
|
|
sushi-repeat
protein|transmembrane 4 superfamily member 6 |
SRPUL|TM4SF6 |
|
X |
98665001 |
0.47 |
0.22 |
0.19 |
0.19 |
hCV2511123 |
GAGGTGCAAGGCAGCAACTGTTGGAAAATTAATTATTGCA[C/T]TGCCAGGCTTTATACTAAAATTTTTACTAAAATTTGAAAG |
T |
T |
C__11176509_10 |
|
|
synaptotagmin-like
4 (granuphilin-a) |
SYTL4 |
Intron |
X |
98714960 |
0.29 |
0.11 |
0.47 |
0.42 |
hCV11176509 |
TGGGTACCCCTTTAGAGGATAAGTTAAGGTTATTGTTCAC[A/C]AAGCTGTGATGAAAAATGTCCCAAGCTGTAATGTAATAAT |
C |
C |
C____339134_10 |
|
|
synaptotagmin-like
4 (granuphilin-a) |
SYTL4 |
Intron |
X |
98744630 |
0.02 |
0.45 |
0.1 |
0.02 |
hCV339134 |
GCAGTGGCACTAGAGATGGAAAGGGGCATATTAAAGACAT[T/A]ACACGGAGAGAAAATCTGCAGGACCTGTGAATGTTCTGTA |
A |
A |
C__15811452_10 |
rs2798206 |
|
synaptotagmin-like
4 (granuphilin-a) |
SYTL4 |
Intron |
X |
98746445 |
|
|
0.43 |
0.45 |
hCV15811452 |
TAACACGCCAGAGCAACTCTAGCTCAAAGCAACATTATAC[A/G]CAAGACAATAACTCATTCCCCTCATCCAGGACATCCATCC |
G |
A |
C__16136385_10 |
rs2071707 |
IMS-JST007289 |
synaptotagmin-like
4 (granuphilin-a) |
SYTL4 |
|
X |
98759413 |
0.44 |
0.44 |
0.47 |
0.45 |
hCV16136385 |
AAATGTCTGTCTAAAATAGAAACGTTTTGGGCAAAAGCGT[A/T]GACTAAATTCATACATACACACTCAAGGACACAACTGGTT |
T |
A |
C___2462425_10 |
|
|
NADPH
oxidase 1|cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa |
NOX1|CSTF2 |
Intron |
X |
98877275 |
0.34 |
0.23 |
0.31 |
0.27 |
hCV2462425 |
GTGAATGAAGCACATAGACCAAAGAAAGCAAACTCTAATG[G/A]CGACAGGGACAGGCAGATAAAGCAAATGAGTGAAGCTGGA |
G |
G |
C___2462442_10 |
|
|
NADPH
oxidase 1 |
NOX1 |
Intron |
X |
98888889 |
0.31 |
0.17 |
0.36 |
0.38 |
hCV2462442 |
AGTGATACTGGAAGTTTCTTAAAGGTAGGAACCCCATAGA[C/T]ATCCTTCATAAGACCCAGCACAGGACTGAACTAATAATAA |
C |
C |
C__16177201_10 |
rs2266916 |
IMS-JST020164 |
NADPH
oxidase 1 |
NOX1 |
Intron |
X |
98892352 |
0.33 |
0.17 |
0.38 |
0.41 |
hCV16177201 |
TTATAATTGAACTCCTGCTGTCATTAATGCATAATTGACT[G/A]TGGATTTAAACTTCTTCCTCTGCTGCTTATCTGCTCTACT |
#N/A |
#N/A |
C___2983948_10 |
rs1204418 |
|
|
|
|
X |
98953459 |
0.3 |
0.25 |
0.08 |
0.1 |
hCV2983948 |
GACCCATATTCCTCGGCTGACTGCAGTTGTCTGCCTCTCT[C/T]GCAATCAAGACAAACTTGGTCCATTCCTTACTCCTGAACT |
C |
C |
C__11612464_10 |
rs1980555 |
|
FSH
primary response (LRPR1 homolog, rat) 1|hypothetical protein FLJ14084 |
FSHPRH1|FLJ14084 |
Intron |
X |
99132873 |
|
|
0.19 |
0.09 |
hCV11612464 |
ACTAGATCTTTACATGCAGCTCTTTTGGTAAGTTGAGATG[T/C]ATATTTAGAGGCAGGTATGGTAGAAATGTCATCATAATTA |
T |
T |
C___2984310_10 |
|
|
FSH
primary response (LRPR1 homolog, rat) 1 |
FSHPRH1 |
Intron |
X |
99145353 |
0.41 |
0.19 |
0.44 |
0.3 |
hCV2984310 |
GAATAGGAAATAAGAAGAGACGCTTTCTGCTTTCTTCTAA[T/C]AGCTCAATAGACTGAGTTCTTCCAGTCAGGGACTGAGCCT |
T |
T |
C__25594432_10 |
|
|
FSH
primary response (LRPR1 homolog, rat) 1 |
FSHPRH1 |
Intron |
X |
99155697 |
0.1 |
0.2 |
0.16 |
0.1 |
hCV25594432 |
CTGGTTGAGTCAAACATTACAAGAAGGTAAGAATTGAGTG[C/A]GGATGGACCAAGATAGTTAACAAATGGGTTTCTTTTATAA |
C |
C |
C___2984304_10 |
|
|
FSH
primary response (LRPR1 homolog, rat) 1 |
FSHPRH1 |
Intron |
X |
99162263 |
0.42 |
0.19 |
0.42 |
0.3 |
hCV2984304 |
GATAGCAGAGATATGAGAAGATAAAAAAATAGAGGGTAGT[G/A]TAGCTGGATAGTATGAACAAAGGAGAAAGGGTTTTTTACA |
G |
G |
C___2984297_10 |
|
|
FSH
primary response (LRPR1 homolog, rat) 1 |
FSHPRH1 |
Intron |
X |
99170283 |
0.44 |
0.48 |
0.22 |
0.17 |
hCV2984297 |
AGAGACTCCATTCATTGATCCAGGGAGAATATAAAATAGC[T/C]AGATCTGTTTTTTGCTAGAAGAATAAAAGATGCCAAAAAT |
C |
C |
C___2984296_10 |
|
|
FSH
primary response (LRPR1 homolog, rat) 1 |
FSHPRH1 |
Intron |
X |
99185947 |
0.42 |
0.21 |
0.42 |
0.3 |
hCV2984296 |
GGGGTAGTAATGGAAATTGACAGAAATGGACTGCTTTGAG[A/G]TATATTGCAGTGGTAGAACAGATGGAACTTGATGATAGTT |
G |
G |
C___2984295_10 |
|
|
FSH
primary response (LRPR1 homolog, rat) 1 |
FSHPRH1 |
Intron |
X |
99188222 |
0.28 |
0.19 |
0.26 |
0.18 |
hCV2984295 |
GTTATTTCTTAAAGCTGATGGATATTTGAAAGGAATCCAA[G/A]AGTGATGGTAGGAATAGAACTTTGCAAATGAGCAAGTGAA |
A |
A |
C___2531269_1_ |
rs3213505 |
|
dystrophin
related protein 2 |
DRP2 |
Intron |
X |
99282955 |
|
|
0.31 |
0.18 |
hCV2531269 |
CTCTGTTCAACAACTGGTCACCTACTCTGCTTTCCCCACA[C/T]CCATGCAGAGACGAGGACCAGTACCTGCTGCGGCACTCCA |
T |
T |
C____337822_10 |
rs1475971 |
|
TAF7-like
RNA polymerase II, TATA box binding protein (TBP)-associated factor,
50kDa|dystrophin related protein 2 |
TAF7L|DRP2 |
|
X |
99290305 |
0.28 |
0.38 |
0.33 |
0.27 |
hCV337822 |
GAATGTGAGCATTTGCTGGGGTTGTTGTCAAATAGTATCA[G/C]AGAACAGTTAGGACTGAGAGGTGATTTCTTCTTGACAGAA |
C |
C |
C___2531261_10 |
rs876152 |
|
TAF7-like
RNA polymerase II, TATA box binding protein (TBP)-associated factor,
50kDa|dystrophin related protein 2 |
TAF7L|DRP2 |
|
X |
99294548 |
0.26 |
0.36 |
0.32 |
0.25 |
hCV2531261 |
ATATTAACCATATAGCATTGGGATTTGGAGCAAATCTTCT[T/C]ACCTTAACAATACAGCATTGGGATTTTATTTGCTTAGTTT |
T |
T |
C__15841020_10 |
rs2180271 |
|
TAF7-like
RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa |
TAF7L |
|
X |
99317674 |
0.32 |
0.31 |
0.31 |
0.38 |
hCV15841020 |
GCACTCTTTGATGCCTGATTAAATTAACAGGACCCCTTAC[C/T]ACCATTCACCTCTAGTTCCATCTCGCTTTAGCAGAATTAC |
T |
T |
C___2494165_10 |
|
|
Bruton
agammaglobulinemia tyrosine kinase|translocase of inner mitochondrial
membrane 8 homolog A (yeast)|translocase of inner mitochondrial membrane 8
homolog A (yeast) |
BTK|TIMM8A|MGC12262 |
UTR
3 |
X |
99376538 |
0.13 |
0.4 |
0.45 |
0.48 |
hCV2494165 |
CTGTCTTAATTCTCTCGGGAAATTTCAGGCACAATAATTT[T/C]TTGGCCTTTGCTCAGAAGCCACTATCCCAGGGAATCAAAG |
T |
C |
C__25594413_10 |
rs3747288 |
|
Bruton
agammaglobulinemia tyrosine kinase|translocase of inner mitochondrial
membrane 8 homolog A (yeast)|translocase of inner mitochondrial membrane 8
homolog A (yeast) |
BTK|TIMM8A|MGC12262 |
Intron |
X |
99383142 |
0.11 |
0.4 |
0.43 |
0.48 |
hCV25594413 |
TGGGAAAGATTCCTACAGGAAAGGCAAGGAACTAGTCTTC[C/T]CCTTTTGGCTCTGCATAATAGCAATAAAGGGGCTGGGGAG |
C |
C |
C__15764205_10 |
rs3027639 |
|
Bruton
agammaglobulinemia tyrosine kinase |
BTK |
Intron |
X |
99392105 |
0.06 |
0.16 |
0.21 |
0.06 |
hCV15764205 |
GGGATTTGAAGATCCTCAAGTTTGCTCTGTCTTCTGCAGG[A/G]CTGGGCACCAGTAGACATGCCAAAGAATACCTAATCGACA |
A |
A |
C__15763875_10 |
rs3027571 |
|
galactosidase,
alpha|heterogeneous nuclear ribonucleoprotein H2 (H') |
GLA|HNRPH2 |
|
X |
99444909 |
0.09 |
0.32 |
0.19 |
0.06 |
hCV15763875 |
GGGTGGTGTACGAGTACCCGTGCCCCCCCCGATCTGTGGG[G/C]TGAGGGTGGCGGTGACTAGCGCTGGGACCAGCTCCTTCTC |
G |
G |
C__15763831_10 |
rs1009457 |
|
|
|
|
X |
99457868 |
|
|
0.41 |
0.43 |
hCV15763831 |
TGCCAGGAGGATTCCTAGTTCTCAGCTCTAGGCAGCAGCA[A/T]CTTGGAAGGCTTCTCTGAAGGTGGACTCCGAAGGATCTAA |
T |
A |
C__15776810_10 |
rs2361009 |
|
|
|
|
X |
99469585 |
0.26 |
0.36 |
0.42 |
0.42 |
hCV15776810 |
GCCCCCAGTTTTCCACCCCTGTAAAGGCTTCCCAGACCTC[C/T]CTCTACCTCTATCATCCTGTCTCCAGGCCACTGTCCCCTG |
T |
C |
C__11176357_10 |
|
|
hypothetical
protein MGC40053 |
MGC40053 |
Intron |
X |
99521442 |
0.26 |
0.32 |
0.41 |
0.44 |
hCV11176357 |
GGGATGGAGCCATGATCTGGTCGGAAACTAAGTTTGCACA[C/T]CAAAGTGAGGCCAGCTTCCCAGTTGAAGATGAGTCCAGAA |
T |
C |
C__16140890_10 |
rs2157110 |
|
hypothetical
protein MGC40053 |
MGC40053 |
Intron |
X |
99526781 |
0.24 |
0.06 |
0.34 |
0.44 |
hCV16140890 |
AAAGTCATAATTACTTATCCAGCTTCTAGTCTCAAGTCAG[C/G]TTTTGATCCACAATACATGGTTTGAAAGAAAGGCCGAGTG |
C |
G |
C___2531063_10 |
|
|
ALEX1
protein |
ALEX1 |
|
X |
99585053 |
0.28 |
0.24 |
0.4 |
0.19 |
hCV2531063 |
TCTTTGTAGTGATCTTGTCAATTTCTACAACATTTCTGAT[G/A]TCTCAGTGATGTTACTGTGGTTTAGACATGAAGCCTAAGT |
A |
A |
C__15779136_10 |
rs2362161 |
|
armadillo
repeat protein ALEX2 |
ALEX2 |
|
X |
99688187 |
0.2 |
0.29 |
0.08 |
0.03 |
hCV15779136 |
GCAGAAGTGAGAGGCCCAGGAGGATGCATCTCTTAGGCCA[A/G]GTGGTAGTAGCAGACAGTGTTTGGAGCAAGGTTCACTGGT |
T |
T |
C__11879234_10 |
|
|
nuclear
RNA export factor 5 |
NXF5 |
Intron |
X |
99870233 |
0.31 |
0.14 |
0.17 |
0.06 |
hCV11879234 |
TTTTCTGGGGCTTGTGTGATCGGTCCCTTGGGGCAGGTTG[A/G]CACTTTGCTTGTCCTACCATGGAGTTAGCCCACAACATGA |
C |
C |
C___2484031_10 |
|
|
|
|
|
X |
99951927 |
0.28 |
0.15 |
0.16 |
0.06 |
hCV2484031 |
ACTTGCTCATGCAGTTTCCTCTGAGCAGCAGGTTGACTCT[A/G]CAGGGCAGCTGTCCTTCATGCAGTGATTCAGATGCTTTTA |
T |
T |
C____334034_10 |
|
|
|
|
|
X |
99962496 |
0.28 |
0.15 |
0.21 |
0.03 |
hCV334034 |
AACATCACTTTTGTGAGAAGACTGGGAAATTCTAGGAAAC[G/A]TCTGGCCCATAGCAGGCTTTCCTTAATTGCTACTCTGTGC |
C |
C |
C___2531222_10 |
|
|
|
|
|
X |
100182055 |
0.23 |
0.17 |
0.31 |
0.06 |
hCV2531222 |
GCAGGTCCTAGTTTTCAATGCCCACATACCTCTTCACTCA[C/T]CGTCCATCTTGATGCATAAAATGGTGGGCATGGGAGTGGG |
A |
A |
C____896252_10 |
rs524880 |
|
thymosin,
beta, identified in neuroblastoma cells |
TMSNB |
|
X |
100536784 |
0.28 |
0.14 |
0.3 |
0.06 |
hCV896252 |
AACATTCTTTACTTTAGTCTCTTTGCTTTACACTGGGGGC[T/C]GGGAGAAATGATGTAGTTTTGTCTTCTGAATCAAGCCCTG |
C |
C |
C___2970937_10 |
|
|
|
|
|
X |
100967177 |
0 |
0.36 |
0.33 |
0.38 |
hCV2970937 |
AAGATTACAGCCTGCTCAGAAGCGTGTTGTGGTCCAGCTC[C/T]TGTGTCATTCAAAAAGACTCCATAAAGTGCAGATCCAGAT |
A |
A |
C_____12879_10 |
rs743748 |
|
|
|
|
X |
101030293 |
0 |
0.09 |
0.26 |
0.28 |
hCV12879 |
CGGAGTTTCTGGCTCCAACCTCCAAGCACACTGTGTCCCA[A/T]GGCTTCTTCCAGGACTTTGTGAGACAATCCTTTTCCTCTT |
T |
T |
C___7621507_10 |
rs1029305 |
|
nuclear
RNA export factor 3 |
NXF3 |
Intron |
X |
101111463 |
0.37 |
0.05 |
0.17 |
0.07 |
hCV7621507 |
GATAGTAAGTGACCAGTAGTCAGCATGGCTGGAATGTACC[A/G]GCCAGTGAAATACATAACTCTGTAGCTGAATATGTCATTC |
T |
T |
C__16177754_10 |
rs2273065 |
|
|
|
|
X |
101242671 |
0.33 |
0.25 |
0.42 |
0.15 |
hCV16177754 |
TCCAGGCTTCCGCAGGCAGCAAAATGGAGGACGAGGATGG[C/G]GTGTGGGAAGGGGAGGGTTGCATGGGGTAGAGGGGGGCGA |
G |
G |
C__16286718_10 |
rs2756057 |
|
X-linked
protein |
DJ79P11.1 |
|
X |
101338219 |
|
|
0.05 |
0 |
hCV16286718 |
AACTTTTTTTCCTTTTTAAAGAAGTATATTAATTTTTTGT[G/T]TTTTACAAAAGAAATAATACAGAAAAGGTATTAAGAATGA |
C |
C |
C____340914_10 |
|
|
hypothetical
protein MGC39655 |
MGC39655 |
|
X |
101743908 |
0.34 |
0.09 |
0.34 |
0.32 |
hCV340914 |
GCAAGGTGATTCATCTCTAAAGCAGGGAGGTACTGCAATT[C/T]ATGCCTTATTCTTGCCAAGAGAACTTCCTTTTCTGGTTCC |
G |
G |
C___2985101_1_ |
rs521895 |
IMS-JST023697 |
proteolipid
protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) |
PLP1 |
Intron |
X |
101808269 |
0.24 |
0.15 |
0.35 |
0.46 |
hCV2985101 |
AGCTACCTATAAGCAAGTGTTAAAATGGATATAACGAAGT[T/C]GTGTGGGCAAAATGTAAGCAAAGGGAAAAGATCATGTCAT |
G |
G |
C___2985102_10 |
rs532117 |
|
proteolipid
protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) |
PLP1 |
Intron |
X |
101809851 |
0.22 |
0.18 |
0.39 |
0.43 |
hCV2985102 |
AAGATACTAGATTCAGCCTATAAGTCAAGAAAAGGAGCTT[G/A]GAAGTAAACAGTACTGCCATTTTCCTTCTCTGCCTATCCA |
C |
C |
C___2231404_10 |
rs527454 |
|
|
|
|
X |
102015150 |
0.29 |
0.11 |
0.16 |
0.1 |
hCV2231404 |
AGGGTGCTAAGCTCCTTCTGATGGACTACAGAAAGGCGTT[G/C]ATTTTTGAGGACTATCCAACGTTAGTCGCATGGTTTCTCT |
C |
C |
C___2534912_10 |
rs604623 |
|
hypothetical
protein MGC39900 |
MGC39900 |
|
X |
102088280 |
|
|
0.37 |
0.44 |
hCV2534912 |
ATTTCGTTTCTTTTTGAACAGAAACCTTCCTTCCTTCCAG[T/A]TGTGTGTCAGTAGAATTACAGAGTGTCCACGGAAACAGCT |
T |
A |
C___8345645_10 |
rs178116 |
|
|
|
|
X |
102110221 |
0.37 |
0.38 |
0.38 |
0.5 |
hCV8345645 |
TCTATCAAGGGAAACAGTACATTATTCCATGTGAGAAGCT[A/C]TACTAATGACATGCATAGGTGTGTGGAATTCAGCAATCAA |
C |
A |
C__11927587_10 |
rs1885584 |
|
|
|
|
X |
102178874 |
0.42 |
0.44 |
0.31 |
0.42 |
hCV11927587 |
AATGTGAACCTCAAAGAGCCAATCCTTCAAGATGAATCCG[C/G]AAATGCTAATGGCCTAAATTTAAAATAGAGAGCCAAACAG |
C |
C |
C___2524256_10 |
|
|
|
|
|
X |
102215927 |
0.29 |
0.05 |
0.39 |
0.49 |
hCV2524256 |
AAGCACTGGATTTGGGGTAAGTCACCTCAAGATTTAGATT[T/A]AGATTTGGCTGTATCACTAACCAGTTTTGGGCAAAGAAGT |
T |
A |
C___1621243_10 |
rs1323219 |
|
|
|
|
X |
102452219 |
0.48 |
0.19 |
0.18 |
0.27 |
hCV1621243 |
AGATTCAGCTTTCGCGAAGTACTAGGTATTTCAAGAAGGG[A/C]TGAAGGTGAGTCTCTTGAAAAGGCAAGCCCTCACCCTCAT |
A |
A |
C___2996779_10 |
|
|
|
|
|
X |
102594012 |
0.35 |
0.17 |
0.34 |
0.39 |
hCV2996779 |
TTCCACAACTTGTACTAATATCTTCACCTTCTCATTCTTT[T/C]GTCCCTGTGATGGATCCTGGCAAAACTCAGTTCTGGATCA |
C |
C |
C____576414_10 |
rs222601 |
|
interleukin
1 receptor accessory protein-like 2 |
IL1RAPL2 |
Intron |
X |
103376613 |
0.02 |
0.48 |
0.07 |
0.01 |
hCV576414 |
GCTAAGGTGATAAGTAATAGTTAAGTATAGTAATAGCACA[C/A]AACCATGTGCTCGGTGATGTATAAAGGACTATAAAACATA |
G |
G |
C___7622143_10 |
rs1321381 |
|
interleukin
1 receptor accessory protein-like 2 |
IL1RAPL2 |
Intron |
X |
103426751 |
|
|
0.09 |
0.02 |
hCV7622143 |
TAACATATAGATACTGATGACTCCCATATATGGATCTACT[C/G]CCTTGACTTCTACCCAGAAACTCAGGCTTCTCTATGTAAC |
C |
C |
C____542810_10 |
rs448592 |
|
interleukin
1 receptor accessory protein-like 2 |
IL1RAPL2 |
Intron |
X |
103646454 |
|
|
0.09 |
0.02 |
hCV542810 |
TCCATTCTCCACTTTGTTGAAAACCTTTAAGGGCACAGAT[T/C]GAATCTTCAACATTTTATTCTCCCTAGCGCCTTTCACTGT |
A |
A |
C___2960683_10 |
|
|
interleukin
1 receptor accessory protein-like 2 |
IL1RAPL2 |
Intron |
X |
103661998 |
|
|
0.24 |
0.03 |
hCV2960683 |
TGATGTAATTTCAGCTTCATGTAATACAACCCTGCCTTTA[C/T]CCTGGAGTGCTAAGCAGCTCTGAACACAACGAAGAGCTTC |
A |
A |
C____542816_10 |
rs210549 |
|
interleukin
1 receptor accessory protein-like 2 |
IL1RAPL2 |
Intron |
X |
103664568 |
|
|
0.06 |
0.01 |
hCV542816 |
CAAAGGAAGAATCACAGTTTTGTTGCCTTGGAAAACAGAA[C/T]ACATTACAATAGCTCAGTGCCAACTACGTTAAACACCTAA |
G |
G |
C___2960689_10 |
|
|
interleukin
1 receptor accessory protein-like 2 |
IL1RAPL2 |
Intron |
X |
103715661 |
0.3 |
0.26 |
0.28 |
0.17 |
hCV2960689 |
ACTCAAAAAAATCTAAGCAGTGACCTAGAGAAAAGGACAA[A/G]AAGGCACAGCAAGTTTTATGTTCAGGGTGTGTTTCATCCA |
C |
C |
C____542837_10 |
rs210434 |
|
interleukin
1 receptor accessory protein-like 2 |
IL1RAPL2 |
Intron |
X |
103721785 |
0 |
0.46 |
0.35 |
0.21 |
hCV542837 |
CAACCTTCCAGTCACACTATTAATTACTTCATAAGTATCT[C/T]GCATATAGGCTTCTGAAAACAGTGATCTCTCTATTTTGTA |
G |
G |
C____542842_10 |
|
|
interleukin
1 receptor accessory protein-like 2 |
IL1RAPL2 |
Intron |
X |
103730916 |
0.02 |
0.21 |
0.36 |
0.22 |
hCV542842 |
TTTTATCTGTATTTGTGAGAGTGCCCTGAACCACATGCTC[T/C]AGTCTAGCAGGCCAGTGTCAGAACACATGGAACACTGGAG |
G |
G |
C___2251027_10 |
rs427729 |
|
hypothetical
protein DKFZp686A17109 |
DKFZp686A17109 |
Intron |
X |
103854677 |
|
|
0.09 |
0.03 |
hCV2251027 |
GAGTGCAAACAATTCAGGAATTTGCTCCTGACTGTGACCT[T/G]CATATACCTCACTTAATCTACTGACCACCAAGAAGACAGA |
C |
C |
C___2251024_10 |
rs366955 |
|
hypothetical
protein DKFZp686A17109 |
DKFZp686A17109 |
Intron |
X |
103860973 |
0.19 |
0.3 |
0.37 |
0.08 |
hCV2251024 |
CATTCTGCATGTTTCAATGCAAATAGAGGGCAAGTGGCAT[T/C]ATTAGAAACTCAAATGGCTTTTGCTTCCCTATAAACCTAG |
A |
A |
C___2531124_10 |
rs545206 |
|
hypothetical
protein DKFZp686A17109 |
DKFZp686A17109 |
Intron |
X |
103903999 |
0.16 |
0.38 |
0.35 |
0.08 |
hCV2531124 |
TATATCCAACAGCAATTTATAATAAAATCTCAACTAAAAT[G/T]GTCAGTGAATGAAGACCTCTGGTTAACCTGGAGTCTGGGG |
A |
A |
C___2250976_10 |
rs209373 |
|
hypothetical
protein DKFZp686A17109 |
DKFZp686A17109 |
Silent
Mutation |
X |
103924139 |
0.19 |
0.28 |
0.36 |
0.08 |
hCV2250976 |
ATTATATATGCAATTTGTGGAACGCACCTGAATCTTCTCA[C/T]GGTGTACTGTTCCTTAATAGCTTCTTCTCTTTCAAAGATC |
A |
A |
C___2481151_10 |
rs209092 |
|
hypothetical
protein DKFZp686A17109 |
DKFZp686A17109 |
Intron |
X |
103930141 |
0.19 |
0.35 |
0.36 |
0.08 |
hCV2481151 |
TATTGCCTCTTCTAATTATATAATACAGTCTGGCTTATGT[A/T]CCTTCTGCCAGTGGTTAGTACTTATAAAACAATACTCTTT |
A |
A |
C___2481155_1_ |
rs209096 |
IMS-JST057470 |
hypothetical
protein DKFZp686A17109 |
DKFZp686A17109 |
Intron |
X |
103952358 |
0.18 |
0.24 |
0.34 |
0.08 |
hCV2481155 |
TTTTGCCTTCATTTTCTCACTCTGTCTTTAATCAGTTCTC[C/T]AACTCATGGCCAATGGCATGTTTAGGAGCTGCATCTTCTT |
G |
G |
C___2229641_10 |
rs441664 |
|
hypothetical
protein DKFZp686A17109 |
DKFZp686A17109 |
Intron |
X |
103967964 |
|
|
0.06 |
0.02 |
hCV2229641 |
CATGATTAAAATCAGAATTCAATTAATTACTTTGATTTTT[C/A]ATTTTTTCTATTATAAAAGGAATAAGTTGACTAAGAAAAA |
T |
T |
C__15947581_10 |
rs2234031 |
|
serine
(or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase,
antitrypsin), member 7 |
SERPINA7 |
|
X |
104054009 |
|
|
0 |
0.08 |
hCV15947581 |
AGCTTAAGGTGTAGGGAGATGATATGTTTACATCTGGCAA[C/A]TTTGAGATTTTCTTATTGAGACTGAGGTCTGTGTGGACCA |
T |
T |
C__15847437_10 |
rs2187799 |
|
serine
(or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase,
antitrypsin), member 7 |
SERPINA7 |
|
X |
104054925 |
|
|
0.39 |
0.13 |
hCV15847437 |
CCTCTGCTTTTGTACAACTTTCCCTTAAAAAACTGCCAAT[C/T]CCACTGCTGTTTGGCCCAATAGTGAGAACTTTTTCCTGCT |
G |
G |
C__11771710_10 |
|
|
claudin
2 |
CLDN2 |
|
X |
104934491 |
|
|
0.09 |
0.06 |
hCV11771710 |
AGAAAGCTTTTTTGCGTTGGGAGAGTAAAGCCAGTCACTG[C/T]GCTCTACTACTCCACAGCATGTTTTTTTGTTTGTTTGTTT |
T |
T |
C__16184946_10 |
rs2296808 |
IMS-JST051121 |
claudin
2|zinc finger, CW-type with coiled-coil domain 2|hypothetical protein
FLJ11565 |
CLDN2|ZCWCC2|FLJ11565 |
|
X |
104952253 |
0.47 |
0.17 |
0.09 |
0.06 |
hCV16184946 |
CCAGAACTTGTTTCCTACAAACTTGTTCTGTCTGTTCTTT[G/C]CTTGTGGATAGCTCCTTTCTTCTCTTGATACAAACTATCA |
C |
C |
C__22273025_10 |
|
|
zinc
finger, CW-type with coiled-coil domain 2|hypothetical protein FLJ11565 |
ZCWCC2|FLJ11565 |
Silent
Mutation |
X |
104972059 |
0.47 |
0.16 |
0.09 |
0.06 |
hCV22273025 |
CAACTGTTTCTTAGCTTTGCTCAAGCACAGGTCTTCATCA[A/G]TGAGTTCTTGTTCCTCTGGAACAGAGCATCTCCTGCAGTA |
G |
G |
C__15879697_10 |
rs2275790 |
|
hypothetical
protein FLJ20130 |
FLJ20130 |
Intron |
X |
105208019 |
|
|
0.48 |
0.48 |
hCV15879697 |
TATTTTCTCTACATCTGGTATAGGAGGGTTAAATTTGAGG[T/G]TGTTGTCCCAACCAGTTGCAAGTGCATCTTCATCTTCCAC |
A |
A |
C__16188590_10 |
rs2298179 |
IMS-JST053006 |
hypothetical
protein FLJ20130|hypothetical protein MGC35261 |
FLJ20130|MGC35261 |
|
X |
105221500 |
|
|
0.46 |
0.47 |
hCV16188590 |
GTCGACCCCTTTTAAGCCTCAGTCTCGGTTAGCTTCACTT[A/C]AGCGGGAACCTGCCCACTAAGGAGGCCGATTCTTTCCGGC |
T |
T |
C__11675007_10 |
rs1885643 |
|
hypothetical
protein MGC35261 |
MGC35261 |
Intron |
X |
105257101 |
0.23 |
0.34 |
0.47 |
0.47 |
hCV11675007 |
TGCAAAAACCGTGTAGAGTCCATCCTTTAAATCTGTTTAC[A/T]ATATAGGTTGTGCTAGACTTAGATTTCCTTTATACTTTAT |
T |
T |
C__25473379_10 |
|
|
v-myc
myelocytomatosis viral oncogene homolog 2 (avian) |
MYCL2 |
Mis-sense
Mutation |
X |
105288643 |
0.27 |
0.11 |
0.48 |
0.37 |
hCV25473379 |
TTTTCTCCGTAGCCATCCTCTCCTCGGCTTCCGCCAGTTC[T/A]TGTAAGTATTCCGTGGCCTTGACTAGGATCATTACTTTGG |
T |
T |
C____793874_10 |
rs757182 |
|
v-myc
myelocytomatosis viral oncogene homolog 2 (avian) |
MYCL2 |
UTR
3 |
X |
105289989 |
0.26 |
0.11 |
0.49 |
0.37 |
hCV793874 |
CAGCTCTCCAGAAAACTTCAGAGAGGCCCAGATTCTGTGA[C/A]AGACATCTGACTCATTGCAGGCTGGTGCGAGGGCCCAAGC |
G |
G |
C__16098472_10 |
rs2107066 |
|
|
|
|
X |
105301899 |
0.24 |
0.21 |
0.49 |
0.37 |
hCV16098472 |
CAAATTCCCTGATTGGTCAGAAAGATGAATTAAAACTACA[A/G]GTTAGAGGGAAACTGGTAAACCAACGACAAAGTAATCCAG |
C |
C |
C__11674991_10 |
rs2023846 |
|
|
|
|
X |
105374994 |
0.23 |
0.12 |
0.49 |
0.38 |
hCV11674991 |
AGCACACAGTGAGCCTTGGTTTCAGTCACACTTTGCTTTC[G/T]GGGAAGAACTGAGATCTTGCCAGCACTTTTCACAGGTTGC |
C |
C |
C___2470597_10 |
|
|
|
|
|
X |
105422373 |
0.23 |
0.12 |
0.46 |
0.38 |
hCV2470597 |
TGCTAGTAACTTCTCTAGATAGGTTAGCACTAATCAATTC[A/G]TGCAAACTTTTGAAATGATTAAAGCAGCCTTTACTGGAAA |
C |
C |
C___1243534_10 |
|
|
delta
sleep inducing peptide, immunoreactor |
DSIPI |
|
X |
105720367 |
0.18 |
0.23 |
0.11 |
0.16 |
hCV1243534 |
ACAGGAAAAAAGAATATTACCTTTAGCAATCATAAGGCTA[C/T]TTGGAGAAAAAGGAGTAGGGGTGCAGCCGAACAGACTTGC |
A |
A |
C__15953676_10 |
rs2236083 |
|
midline
2 |
MID2 |
Silent
Mutation |
X |
105855932 |
|
|
0.07 |
0.16 |
hCV15953676 |
ACAGCCTCTGCTTCAGCTGTGCCCATCGCATTTTGGTATC[A/C]AGCTGCAGCTCTGGTGAATCCATTGAACCCATTACTGCTT |
G |
G |
C__15773237_10 |
rs2344566 |
|
midline
2 |
MID2 |
Intron |
X |
105866867 |
0.16 |
0.37 |
0.09 |
0.22 |
hCV15773237 |
AGGACTTTGGTCTCCATTTCCAGCTGCGTCCCCCACTACT[G/C]TCTTTCTACCCTCTGTTCTAGCCAAAGGAAACTACTAGTC |
C |
C |
C___2804842_10 |
|
|
midline
2 |
MID2 |
Intron |
X |
105896593 |
|
|
0.09 |
0.21 |
hCV2804842 |
TCTTTGTTCTGCCCAGTGATGACCTTTTCTTCTCTCTGGT[G/A]TGTCCTTCAAAACTTGTTTTCTGAGATACTGAAATTCACA |
T |
T |
C___2495350_10 |
|
|
midline
2 |
MID2 |
Intron |
X |
105908250 |
0.16 |
0.18 |
0.09 |
0.21 |
hCV2495350 |
TCTGTCTATAATCTTTCATGTTCTTACGGCTTTCTGAAAA[A/G]CAGTGCTATTATTGAAATATCTCCCATAAACATTATAAAA |
C |
C |
C___2495349_1_ |
rs2300101 |
IMS-JST055652 |
midline
2 |
MID2 |
Intron |
X |
105913414 |
0.15 |
0.17 |
0.11 |
0.22 |
hCV2495349 |
TCCATTACATCTGTCAGGCTGATCTGCTTTAACCAAGCAC[G/A]TTTTCTATTTTTCTGCTTATGCTTTTGCTCATGCTATTCA |
T |
T |
C____782861_10 |
|
|
hypothetical
protein MGC44287|testis expressed sequence 13B |
MGC44287|TEX13B |
|
X |
105994504 |
0.33 |
0.24 |
0.09 |
0.17 |
hCV782861 |
CAAAACTTACAATCATCAGAGGGAGAGAAGCAGACTAACC[C/T]GTCACCTACCCCCTTACCGTACCCACTCCTATCCTCCTCC |
A |
A |
C___7455364_10 |
|
|
hypothetical
protein MGC44287|testis expressed sequence 13B |
MGC44287|TEX13B |
|
X |
105999368 |
0.33 |
0.22 |
0.08 |
0.12 |
hCV7455364 |
AACCTTTTTGTGTCCCCATAACAACTTGTGCATATGTCTG[A/G]CGGTACTTTTCACACTGTATTGTAATCTGTGATTTTCTCG |
C |
C |
C___7455357_10 |
rs807228 |
|
hypothetical
protein MGC44287|testis expressed sequence 13B |
MGC44287|TEX13B |
|
X |
106007404 |
0.31 |
0.24 |
0.14 |
0.16 |
hCV7455357 |
AGCATGGGAAAGTTTTCCTCGCCCAAAGACCTGATCCTTT[T/C]CACATTCCCAGGCCTTCAGTTTTCACCACAAGTCTCATGA |
G |
G |
C___8929228_10 |
rs699665 |
|
hypothetical
protein MGC44287 |
MGC44287 |
Intron |
X |
106086007 |
|
|
0.25 |
0.06 |
hCV8929228 |
TGTGTACAGATAGTGAGAGTCTGGGAAGGCTGAACTGAGC[G/A]GAAGTCAATGGGAGAGTAACTTTAGTAGCAGGAATTAGTG |
T |
T |
C___3045779_10 |
rs807178 |
|
hypothetical
protein MGC44287|AUT-like 2, cysteine endopeptidase (S.
cerevisiae)|proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 |
MGC44287|AUTL2|PSMD10 |
|
X |
106100293 |
0.4 |
0.07 |
0.07 |
0.22 |
hCV3045779 |
CAATTCTATGTAATGGTTAGGATTTCTTGCTAGGTAGTCT[A/G]AAGTGCATATGATTAAGAAATGGTAACATTGGAAAGTTAT |
C |
C |
C____266607_10 |
|
|
AUT-like
2, cysteine endopeptidase (S. cerevisiae) |
AUTL2 |
|
X |
106126639 |
0.35 |
0.27 |
0.26 |
0.05 |
hCV266607 |
GGCCCTGGCAGTACTGCATAAGGGTTGCAATCAAGAAAGG[C/G]AGCACCAGGCTTTGGATGAAGAAACTCAAATTAAACCCAA |
G |
G |
C__16187060_10 |
rs2294465 |
|
collagen,
type IV, alpha 6|AUT-like 2, cysteine endopeptidase (S. cerevisiae) |
COL4A6|AUTL2 |
Intron |
X |
106177883 |
|
|
0.07 |
0 |
hCV16187060 |
AAGCTTGGGAGCTTTGTGAAGGAAGAGAGGCAACGCTTGA[C/T]GAAGACACACCCTTGGAGGTGGACATCCAAGCCAGCCTCT |
G |
G |
C___2820722_1_ |
rs2295914 |
IMS-JST049933 |
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106190138 |
0.27 |
0.44 |
0.19 |
0.18 |
hCV2820722 |
CCTTTGCTCAAGAAGGAAGCCAAGTTTGGTTATGAAGCCT[C/T]TCTTGAGCATTTCTCCTATCCATCCCCTGCCCCAGCACCT |
A |
A |
C___2820730_10 |
rs1266729 |
|
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106220244 |
0.28 |
0.39 |
0.11 |
0.19 |
hCV2820730 |
ACAAAACACCAAGGAAAGACCCAGATGGAAGGAAGAGAAA[T/G]AATCTATTTCAAGGGAATATGTTTGTAAGACATACACCTT |
A |
A |
C__11182331_10 |
rs1266741 |
|
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106233157 |
|
|
0.13 |
0.19 |
hCV11182331 |
AGCTCTAGGGCTCTCTTGGCCACAGGTTGGAGGCAAGAGT[A/G]TCCAGCTGGACTCTGGGGCCGTTTCCAGCTCAGAATTGGA |
C |
C |
C___8929120_10 |
rs1266742 |
|
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106244348 |
0.24 |
0.26 |
0.29 |
0.31 |
hCV8929120 |
GAGATGATATGCTAGCTAAGTGTACAGGGTTCAGAGTTCA[G/A]AAGTCTAGGATTCAAATTCCCTCTTCACCACCGTAGGACT |
T |
T |
C___2820736_10 |
rs1266747 |
|
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106252085 |
0.26 |
0.26 |
0.3 |
0.31 |
hCV2820736 |
TTTTGCCCAAAGGCTCTTGTCTCTCTCATGGTGACTTCAT[C/T]CATCTCCTACAATTTCCACCACCTTTGCTATAAAGATGAG |
G |
G |
C___8929088_10 |
rs1266751 |
|
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106259790 |
0.27 |
0.42 |
0.12 |
0.22 |
hCV8929088 |
AATGTTTGAGGGTGCTGAAATGGTTGGAATGAGTAAGCTT[C/T]AGGTTGGTTCAACTGTCCTAACCACCACTTCTTTCCCAGA |
G |
G |
C___8929068_10 |
rs1266756 |
|
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106269187 |
0.27 |
0.26 |
0.29 |
0.31 |
hCV8929068 |
GACAGAAAATCTTTCTTTGCTATTTGAGGACTAGCTGTGT[C/T]GCCAAGTTATTTTCCAGTAGATTATTTTCCATTGTCTGAG |
G |
G |
C___8929016_10 |
rs1266765 |
|
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106282869 |
0 |
0.34 |
0.16 |
0.12 |
hCV8929016 |
CGTGAGGCCACACCCTGGGATTTCACAGACTCTTTTTCAC[A/G]TAAGTTACATTCCTAATGCATCACATTTGATTTCCACTTT |
C |
C |
C___2820753_10 |
rs1266786 |
|
collagen,
type IV, alpha 6 |
COL4A6 |
Intron |
X |
106300760 |
0.26 |
0.43 |
0.12 |
0.22 |
hCV2820753 |
CCATGACACTTGGTTTGTATGGCACCTTGCAAAAACTGCC[G/A]TTTTTCAGCAATACAGTCTTGCCTGATAAAAACAGATCAA |
C |
C |
C__15868621_10 |
rs2223632 |
|
collagen,
type IV, alpha 5 (Alport syndrome) |
COL4A5 |
Intron |
X |
106516192 |
0 |
0.38 |
0.27 |
0.1 |
hCV15868621 |
TTCTGTACCCAAAATAATTTATTCTTAGGGATTCTGTGAG[T/G]GATTAAATGACACTAGAGACAAACGATGAGGCAATGAGAA |
A |
A |
C___9867232_10 |
|
|
collagen,
type IV, alpha 5 (Alport syndrome) |
COL4A5 |
Intron |
X |
106542785 |
0.37 |
0.07 |
0.07 |
0.22 |
hCV9867232 |
GCTGGTGCTTGCACTCACCATTGGGGTCCTGAGCACAAGC[C/T]GCAGAGCCGAGCTTCTGCTCTGAGAGAGAACACATAGCCT |
G |
G |
C___2784522_10 |
|
|
collagen,
type IV, alpha 5 (Alport syndrome) |
COL4A5 |
Intron |
X |
106637752 |
0.11 |
0 |
0.28 |
0.44 |
hCV2784522 |
TCTTTGATGGATAAAATTGATATATTGTGTTTTCACACAC[G/A]TTGATTTTAGGTGATGATGGCTTGCAGGGTCAGCCAGGAC |
C |
C |
C___2784541_10 |
|
|
insulin
receptor substrate 4 |
IRS4 |
|
X |
106757148 |
0.11 |
0.45 |
0.32 |
0.29 |
hCV2784541 |
TTGTTGTTTCCCCTCTCTCCACTCCTCACATGGTCCTGCA[G/A]TATCTGTCAGATTGAACACTTTGTTTCACTTTCATAGTCA |
T |
T |
C___2784543_10 |
rs2346677 |
|
insulin
receptor substrate 4 |
IRS4 |
|
X |
106759629 |
0.13 |
0.45 |
0.32 |
0.3 |
hCV2784543 |
ACTGCAGCTGTGAGTCATGTTAGAGAATACATTTTCTTTA[A/G]GCTTGTTAATCATCCCTCTTTGACAAAATTTTTCACATAA |
C |
C |
C___8321750_10 |
|
|
|
|
|
X |
106883404 |
0.19 |
0.41 |
0.27 |
0.37 |
hCV8321750 |
GAAAAGGGGAAGAAGTAGAAGGAGGCACGATGTATGTTGG[G/C]AAACAGAACACTCAAAATAGGAAAAGAATGCACATAAATT |
G |
G |
C___2503066_10 |
rs615213 |
|
guanylate
cyclase 2F, retinal |
GUCY2F |
|
X |
107371050 |
0.17 |
0.43 |
0.22 |
0.35 |
hCV2503066 |
AGCAAGCCTGGTGGGAAGATTGGGACTTCTTTTAGACTGT[T/C]GGTATAAATCATTCTAAGAGTGCCATCTTCGGCATGCAGA |
A |
A |
C___2241624_1_ |
rs672507 |
|
guanylate
cyclase 2F, retinal |
GUCY2F |
Intron |
X |
107382616 |
|
|
0.17 |
0.3 |
hCV2241624 |
TATGTCATTTCCTCCGGAGGCACTGCCTGATCCCTTTCAA[G/A]GGATCAATTTTGCCAACCAAAATAAGACTGGCTACTCTTT |
T |
T |
C___2241621_1_ |
rs595199 |
IMS-JST055678 |
guanylate
cyclase 2F, retinal |
GUCY2F |
Intron |
X |
107386968 |
0.17 |
0.15 |
0.19 |
0.3 |
hCV2241621 |
CAATGCCTAACTGGCCAGTTCTACTTTTTCAATATTTCTC[G/T]CCTTGTGGGCTAGTGATAAATCACTGTATTACCTTTTCTC |
C |
C |
C___2241619_1_ |
rs556111 |
IMS-JST055675 |
guanylate
cyclase 2F, retinal |
GUCY2F |
Intron |
X |
107391174 |
0.32 |
0.03 |
0.09 |
0.18 |
hCV2241619 |
GGCCATGGAAGTAGTCATCCAGGAACTGCTGCATTAATAT[A/G]ACTTTGCATATGACTTTACTCTTGAAGTGCAACCCAAGAT |
T |
T |
C___2241618_1_ |
rs616218 |
|
guanylate
cyclase 2F, retinal |
GUCY2F |
Intron |
X |
107392550 |
|
|
0.32 |
0.31 |
hCV2241618 |
AACTTTTATTCTTTTACAAAGATACATTCCTTCCTCTTTG[T/C]ACTATTCCTCTATTAGCATTGGGTGCATACCTGTTGACTG |
G |
G |
C___2241614_10 |
rs658454 |
|
guanylate
cyclase 2F, retinal |
GUCY2F |
Intron |
X |
107448879 |
0.32 |
0.05 |
0.04 |
0.08 |
hCV2241614 |
TCTCTAGGAGGTGGAAGCACCTTTATAATTTTTTGGTGCT[A/G]CATGGTGGTTAAACAGGGTACCAACACTGAACTGAAAAAA |
C |
C |
C___2505814_10 |
|
|
guanylate
cyclase 2F, retinal |
GUCY2F |
Intron |
X |
107463657 |
0.35 |
0.07 |
0.05 |
0.03 |
hCV2505814 |
TGGGAATGTTGTTTTTGAGTTTTAATCTTCACTTTTGGCT[C/G]TAGGTAGATGCAGTTTCTTTCTCAGAAGGCTCTGTGCCTT |
G |
G |
C___2505811_1_ |
rs2300113 |
IMS-JST055666 |
guanylate
cyclase 2F, retinal |
GUCY2F |
Intron |
X |
107476871 |
0.33 |
0.03 |
0.07 |
0.03 |
hCV2505811 |
AAAGAATCCTGAGAGAAGATGAGACTTGGGATAAATCTGC[C/A]TGCTGCCCTCCTCCTCTGGTCTGCCTCCCCTCCCCGCCCT |
G |
G |
C___2241606_10 |
rs494589 |
|
guanylate
cyclase 2F, retinal |
GUCY2F |
UTR
5 |
X |
107489107 |
0.31 |
0.18 |
0.21 |
0.17 |
hCV2241606 |
AAATGGACACACTGAGGTAGCTATGCCAGTGGTCTGCATG[C/T]GCAGGCAGTAAACTGAAGACATTTGAGCGGTGAATTACTT |
A |
A |
C___1208137_10 |
rs1321288 |
|
|
|
|
X |
107569903 |
0.38 |
0.48 |
0.23 |
0.16 |
hCV1208137 |
TGCCAAGAATGGCAGTGAAATGGAATAGCTAGGGCTAGGA[A/G]GGGGAGGAGACACAAGACAAAGACAAATAGAGAAGTGCTT |
C |
C |
C___8789732_10 |
rs1802109 |
|
acyl-CoA
synthetase long-chain family member 4|fatty-acid-Coenzyme A ligase,
long-chain 4 |
ACSL4|FACL4 |
UTR
3 |
X |
107651175 |
0.02 |
0.13 |
0.07 |
0.02 |
hCV8789732 |
TATTGACAGTTGTGCAGGAGGTAGCCTGGTGGTTTTCAAC[C/T]TCTAGAATTTTAAGCCTTTGTTGAACTGTTAGAATGTAAG |
A |
A |
C___9190286_10 |
|
|
acyl-CoA
synthetase long-chain family member 4|fatty-acid-Coenzyme A ligase,
long-chain 4 |
ACSL4|FACL4 |
Intron |
X |
107686485 |
0.38 |
0.11 |
0.11 |
0.03 |
hCV9190286 |
TCGGAAGGAAAAGTGGTTACTAGGCTAGCACTATACACTG[T/C]CTTGAAAGTGGAAGCTCCAGGGTTCTGTTTAAAACTTATC |
G |
G |
C___1962920_10 |
|
|
acyl-CoA
synthetase long-chain family member 4|fatty-acid-Coenzyme A ligase,
long-chain 4 |
ACSL4|FACL4 |
Intron |
X |
107691200 |
0.39 |
0.1 |
0.14 |
0.03 |
hCV1962920 |
TTATTGGCATACCCTATTCTACCAAAGTTTTGACAAACTT[G/A]AATATCATATTCATGCATTTGTGTAAGCATTAAGGTTGTT |
C |
C |
C___8789706_10 |
rs1324805 |
|
acyl-CoA
synthetase long-chain family member 4|fatty-acid-Coenzyme A ligase,
long-chain 4 |
ACSL4|FACL4 |
Intron |
X |
107726633 |
0.38 |
0.23 |
0.18 |
0.03 |
hCV8789706 |
GATGATTTTCAGCGCGAGGAGTACAAAATAGGGGAGTTGA[C/T]ACTTGCATCAGCCCTGCTAGCTGCCTTGAATCCTAGCTCA |
G |
G |
C__11878604_10 |
|
|
hypothetical
protein FLJ22679 |
FLJ22679 |
Intron |
X |
108022700 |
0.44 |
0.36 |
0.16 |
0.22 |
hCV11878604 |
TGGAACTTAAAAAAGGAAACTCTTAACAAATGCAAACCAA[T/C]AATGAACAAGTGCTGATATGAAGAGGACCCTTTGTTACAA |
G |
G |
C__12120232_10 |
rs2066364 |
|
hypothetical
protein FLJ22679 |
FLJ22679 |
Intron |
X |
108036827 |
0.38 |
0.08 |
0.05 |
0.14 |
hCV12120232 |
CTCTGTATGCCTTCCAGCTTCACATAGTCTGATTCCATTC[G/A]AAAATCTAATAAAAGGGGGAATAGCTGACATCATTTCTGT |
T |
T |
C__11174615_10 |
rs2795991 |
|
hypothetical
protein FLJ22679 |
FLJ22679 |
Intron |
X |
108140971 |
0.18 |
0.25 |
0.05 |
0.16 |
hCV11174615 |
AGTCATTTCTGAAAAGGCCGGGAAGGAAGCTCTGGTGTTT[G/T]GTCTGCCTAAGGATAATAATAATAGTTCACATAATAGTGT |
A |
A |
C__11174611_10 |
rs2795992 |
|
hypothetical
protein FLJ22679 |
FLJ22679 |
Intron |
X |
108141290 |
0.18 |
0.25 |
0.05 |
0.16 |
hCV11174611 |
TACTTTGAGCCCATAAAAGATGCTGTTTGTTCTGGTGGCA[C/T]AGCCACTTGTGCAAGTGTATTTCCTGGTTTGAAAAACCAG |
A |
A |
C_____50133_10 |
|
|
hypothetical
protein FLJ22679 |
FLJ22679 |
Intron |
X |
108151899 |
0.16 |
0.14 |
0.05 |
0.15 |
hCV50133 |
GTCCAAAGTTGACCTCCCCTGCTGTTCAGGACCCATATTT[C/T]AGCAATCCCATGCATTTCACCAATTCACTTCTCTTTACAA |
A |
A |
C__16187163_10 |
rs2294504 |
IMS-JST048016 |
Alport
syndrome, mental retardation, midface hypoplasia and elliptocytosis
chromosomal region, gene 1 |
AMMECR1 |
Intron |
X |
108316638 |
0.29 |
0.03 |
0.03 |
0.16 |
hCV16187163 |
TTATGCAGTATCCTGCCAGAAGATGCTGACCAGTTCTCTA[G/A]TAATAGAAAGTAGTGAGATTGAATTAAGAGCCTATATAGT |
C |
C |
C___3046479_1_ |
rs2286064 |
IMS-JST036481 |
angiomotin |
AMOT |
UTR
3 |
X |
110785620 |
0.08 |
0.03 |
0.09 |
0.05 |
hCV3046479 |
GATGTTTTTTAACAGGACTTTTTATTGGAACAATGTACTA[G/C]TTGAGTAATACCATGTGAACACCAGTCTATTTTGGTATGC |
C |
C |
C__11613839_10 |
rs2038692 |
|
angiomotin |
AMOT |
Intron |
X |
110793573 |
0.14 |
0.46 |
0.13 |
0.23 |
hCV11613839 |
TTCTGAAGAGCAGCAAAAGGATGACAAGATAACCCACCCA[G/A]TCAACTATGTAATTTTTATCAGCTTGCATTTACTGAATTA |
T |
T |
C___3046487_10 |
rs650005 |
|
angiomotin |
AMOT |
Intron |
X |
110839098 |
|
|
0.14 |
0.24 |
hCV3046487 |
GTCTAGCTTGGAGATATATGGGAGGAAAGGCCATCGGGAT[G/A]AATAAAGGAATTTCTTTCCCTCCCACATTTGCAAAGTACC |
C |
C |
C____784013_10 |
rs650886 |
|
|
|
|
X |
110864761 |
0.21 |
0.2 |
0.4 |
0.35 |
hCV784013 |
CTCATACCTTATCTTGCCCAAGTCTAAAGAACTCTCATTC[C/T]GAGTCACTCAGGTTGGGGGAAAGGGGGAGGTGGTTAACGA |
A |
A |
C___1634576_10 |
rs646398 |
|
|
|
|
X |
110871697 |
0.28 |
0.23 |
0.43 |
0.33 |
hCV1634576 |
AAATATTAACTGGGTGCTTCCCATGAACAAGACATTGAGC[T/C]CAGAAATCTTGCTAGCATATTTAAATCTTTCCTCTCATTT |
A |
A |
C____784023_10 |
rs659521 |
|
|
|
|
X |
110872331 |
0.29 |
0.31 |
0.43 |
0.33 |
hCV784023 |
TGTACACCTAGCCATTCTCCAAGTTCAACCTTCCTGACTT[C/T]CCTATGAACATTTATAACACGTATTGTCACATTCAGCATG |
A |
A |
C___2459066_10 |
|
|
|
|
|
X |
111525102 |
0.4 |
0.34 |
0.32 |
0.4 |
hCV2459066 |
AGTTTACACTCCTTAACACAACATCATACTAATTTAGGTA[T/G]GTAGAGCTTCCCTGTTCCACATGAAAGACAGATTATTAGC |
A |
A |
C___2532346_10 |
rs761544 |
|
|
|
|
X |
111671876 |
0.26 |
0.47 |
0.09 |
0.16 |
hCV2532346 |
GTAGTTAAGAGTAGGCTAACTGATAAAAATAGACCCAAAC[T/A]TGGGATAGCTCAATAGATGGAATTTTATTTATTGTTCACC |
A |
A |
C___7455715_10 |
rs1023574 |
|
5-hydroxytryptamine
(serotonin) receptor 2C |
HTR2C |
Intron |
X |
112619273 |
0.43 |
0.34 |
0.08 |
0.09 |
hCV7455715 |
TTAGCAAGGTATTCATTTAGTAACACCATATTTCAATTAT[C/G]TTCATATATATTCAATATATATATTCCATATAGTCATATA |
C |
C |
C__15819058_10 |
rs2843480 |
|
KIAA1495
protein |
KIAA1495 |
|
X |
113106603 |
0.14 |
0.32 |
0.03 |
0.12 |
hCV15819058 |
ATGCCCAGATATATTCTGGAATTGGTAAATTGGAAAATAT[C/T]GAATGTCATCTACTTCTTAAGGCATAAACTTTTCTAATCC |
A |
A |
C__16161848_10 |
rs2207050 |
|
|
|
|
X |
113422018 |
0.4 |
0.18 |
0.06 |
0.03 |
hCV16161848 |
TATGCAGAGCGATGACAAATTCACTTAAATCCAGTATCAG[G/C]TTCTAAAAATATCTGTGATGCAGGGAGGGAAAGAAATAGT |
G |
G |
C___2532722_10 |
|
|
|
|
|
X |
113428864 |
0.45 |
0.33 |
0.05 |
0.03 |
hCV2532722 |
ATCAGAAATATACATTCCTAGATTTTATCCCAGAAAATAC[A/G]TGAACTCAAGATGGGGAGCTACCACTTCAGTTTTTTTTTT |
C |
C |
C__15891894_10 |
rs2522163 |
|
|
|
|
X |
113521009 |
0.31 |
0.47 |
0.26 |
0.44 |
hCV15891894 |
ATTATGCAAATGTGACATATTTTCTCCAAACAGCCACCTA[A/T]ATGAAAGTGGTGGGTTTTCAATTATCTGAGGCATAAACCA |
T |
T |
C___2555364_10 |
|
|
|
|
|
X |
113523337 |
0.32 |
0.08 |
0.26 |
0.43 |
hCV2555364 |
AATCAAGCAGATAGCCAAGTTGTCAGTGTGCATGTCTTAC[T/C]AATAATGTTATATTGATTTCTCTGTAATTGTTTCTTTAGT |
A |
A |
C___2555369_10 |
|
|
|
|
|
X |
113532788 |
0.5 |
0.24 |
0.48 |
0.48 |
hCV2555369 |
TGTTTTAAAACGCTGAATGTTAAAAAATATGTATACCATA[C/A]AGTTCTTAAACTTTCCCATATGTATTTATCTCTGTTCTTG |
G |
T |
C___2555375_1_ |
rs1557770 |
IMS-JST003557 |
plastin
3 (T isoform) |
PLS3 |
|
X |
113559428 |
0.49 |
0.21 |
0.5 |
0.4 |
hCV2555375 |
CTCGGAGTACACATTCACACAATCTTGTGGGATTAATAAA[A/C]AGATGAAAAAGTTGGGAACAAGAATTTGAATGCCACCTAT |
G |
G |
C____302623_10 |
|
|
plastin
3 (T isoform) |
PLS3 |
Intron |
X |
113622434 |
0.29 |
0.27 |
0.42 |
0.38 |
hCV302623 |
CAGCTGAGTAGGCATCATTACTTAGTCAATTTGCTTCTTG[A/G]ACTACTACAGTGTTCTAAAGGTGTTAATTCTAATTGGAAA |
T |
T |
C___1252345_10 |
|
|
|
|
|
X |
113722560 |
0.2 |
0.3 |
0.26 |
0.17 |
hCV1252345 |
CCTCGCCCAGGCAAGTCCCTGAAAATTTTGAGGGCTTGTC[T/C]TTCCACGTTGTTAAGTGCATATATGGAAATGAAGTATATT |
C |
C |
C___1841569_10 |
|
|
angiotensin
II receptor, type 2 |
AGTR2 |
UTR
3 |
X |
114089830 |
0.26 |
0.26 |
0.24 |
0.16 |
hCV1841569 |
AACAAACAGTGTTTATAGATATAGGGTAAAACTACCCCCA[C/G]GGTATATATTTTCAAAGTCACATTGTACTGCCCTGACAGG |
G |
G |
C__16094415_10 |
|
|
angiotensin
II receptor, type 2 |
AGTR2 |
|
X |
114097914 |
0.47 |
0.23 |
0.4 |
0.3 |
hCV16094415 |
AGTAAGCTAAGCATGTGTATCCTTGGGATCTGGTACAGAA[T/C]ATAGTGACAATTCTGTTGGTTCCAGACAGGGAAATTCTTG |
T |
T |
C__15979351_10 |
rs2312054 |
|
solute
carrier family 6 (neurotransmitter transporter), member 14 |
SLC6A14 |
Intron |
X |
114352194 |
0.27 |
0.09 |
0.1 |
0.02 |
hCV15979351 |
ATGAGGTGGCCCTAAGTCTTCTAGCTATGAGAGTAAGAGC[A/T]TTTCTTTCTTCTCTACTCTATAGGTATATCTCAGTCACAC |
A |
A |
C__15979352_10 |
rs2312055 |
|
solute
carrier family 6 (neurotransmitter transporter), member 14 |
SLC6A14 |
Intron |
X |
114361133 |
|
|
0.1 |
0.02 |
hCV15979352 |
TGTAACAGCATGTCTCATCACAACTTAACATTAACAGAAC[A/G]TGCTAGATATTGTACTGAGAATACAAAGACAAGATCCCCA |
A |
A |
C___8789802_10 |
rs2011198 |
|
solute
carrier family 6 (neurotransmitter transporter), member 14 |
SLC6A14 |
Intron |
X |
114373881 |
|
|
0.5 |
0.49 |
hCV8789802 |
AATAATGCACAGTTTACCAAGAAAAAGGTATAATCAAATG[T/G]AGCTAGTTGTTAATAGAAGTATATTAACTACTAAACCAAA |
G |
G |
C__11608755_1_ |
rs1876297 |
IMS-JST044855 |
|
|
|
X |
114581896 |
0.22 |
0.03 |
0.09 |
0.05 |
hCV11608755 |
TTAGAAGAGACCACAACTGTCGAATCACTGGTCAGAATAC[G/A]GGAATTGCGGGAGTGAGGGGGTAAAAGTCTGGGGCTCCTT |
T |
T |
C____326421_10 |
|
|
|
|
|
X |
114643286 |
0.2 |
0.46 |
0.29 |
0.24 |
hCV326421 |
AATCAAATACTATGAATTTAGTTTACAATAAGACCTGTTT[G/A]GTATTTGACAGTTTCTTTTTGTTCCCTTATTTTCTCATTT |
T |
T |
C___2307390_10 |
rs714597 |
|
|
|
|
X |
115750661 |
0.25 |
0.3 |
0.26 |
0.29 |
hCV2307390 |
TGAGCTAGGGTCTTTTTTTTAAATTTGGCACTACAAAAAG[A/T]GGTGCTGCCTCAGCAGGAAACATTTCTAAAATTTAATTTA |
T |
T |
C__11674167_10 |
rs1937926 |
|
|
|
|
X |
116149509 |
0.09 |
0.37 |
0.28 |
0.35 |
hCV11674167 |
GTGGAAAAGAACCCCTATTTAAAAACTGAAGCCATCCAAC[G/A]AGTGATCTGCAGTGATATCAATTTCATTTACTGGTCATGT |
T |
T |
C___1826952_10 |
rs2802616 |
|
similar
to rab11-binding protein|similar to rab11-binding protein |
DKFZp686L20145|FLJ11116 |
Intron |
X |
116238470 |
0.23 |
0.3 |
0.34 |
0.33 |
hCV1826952 |
GAGGAAATAAAATGACTCACAGTGCAGGGCTCTTTTCTAG[C/T]GTACCACACGATTCCTCTTCTCTTTCCTGCTCTATCAAAA |
G |
G |
C__16097572_10 |
rs2802612 |
|
similar
to rab11-binding protein|similar to rab11-binding protein |
DKFZp686L20145|FLJ11116 |
Intron |
X |
116255519 |
|
|
0.34 |
0.3 |
hCV16097572 |
ACCCTTTAGTAAGGCCTTAATTTATCTACAAGTACTACCA[C/A]AAATTTCTCAGGGAAAGCTTGGGGGTCCCAGAGACTGAAA |
T |
T |
C____517772_10 |
|
|
similar
to rab11-binding protein|similar to rab11-binding protein |
DKFZp686L20145|FLJ11116 |
Intron |
X |
116270823 |
|
|
0.19 |
0.42 |
hCV517772 |
TTAAAAGGTATGGTAGCTTATTCAATTTTCAGCAATTCAT[A/G]TAACAGTTACCTCCACCTGTGTTGGATATTACAGAGCTGT |
T |
T |
C__11770698_10 |
rs2380314 |
|
similar
to rab11-binding protein|similar to rab11-binding protein |
DKFZp686L20145|FLJ11116 |
Intron |
X |
116309202 |
0.23 |
0.12 |
0.47 |
0.32 |
hCV11770698 |
AGCAAGCCCTTTTCCCTAAAGCAAAGCAGTTAAAATTATC[A/T]CTGCTACATTAGTCAGTGAGGCTTTATGGAGGAAGCGGGC |
A |
A |
C____518276_10 |
|
|
similar
to rab11-binding protein|similar to rab11-binding protein |
DKFZp686L20145|FLJ11116 |
Intron |
X |
116322992 |
0.12 |
0.19 |
0.22 |
0.14 |
hCV518276 |
GGGGCTCAATCTCTTCCTCGAGACAAAATCAGGTTGTCTA[C/T]CTCACGGGGTTGTTATTGTAAGAATTAACACGGTAATTCT |
A |
A |
C__12055383_10 |
rs1986444 |
|
similar
to rab11-binding protein|similar to rab11-binding protein |
DKFZp686L20145|FLJ11116 |
Intron |
X |
116331171 |
0.24 |
0.11 |
0.46 |
0.31 |
hCV12055383 |
ATTTAAATAATAATGATATGTAAAGTTTTGAATACAAGAC[A/C]CTGTGCTGTGGGGTGTTAAAATGCTTTCTTAGAATCCTAA |
G |
G |
C_____94107_10 |
|
|
similar
to rab11-binding protein|similar to rab11-binding protein |
DKFZp686L20145|FLJ11116 |
|
X |
116347337 |
|
|
0.34 |
0.3 |
hCV94107 |
ATATATTTCAGAACTTCACTTTCAGGAATGGGGATGGACA[G/T]TTAGTAGTTATTTCAAAATACCATACACATCACTCCATTC |
C |
C |
C____346782_10 |
rs1294821 |
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
Intron |
X |
116391841 |
0.05 |
0.06 |
0.05 |
0.1 |
hCV346782 |
AAGGTGCAAACCTCTTCAATCAGCTAATCTCGCCTACAAT[T/A]TCATCTCTGTCCACTCAGCCCTGGCCTTTTCCTGGCTCTT |
T |
T |
C___8790643_10 |
rs1294818 |
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
Intron |
X |
116395089 |
|
|
0.09 |
0.14 |
hCV8790643 |
AATCATTAATAGCAAATTTAGGCATGATTGTGCAAGGCTG[C/T]ACACAGACAAAAGATGAACCACGTAGAGCTGGAACACTCG |
G |
G |
C____337917_10 |
|
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
Intron |
X |
116416522 |
|
|
0.26 |
0.39 |
hCV337917 |
ATTCTCCAACTAAAATGCTATCCTCTCAATGTGACAGTGC[A/G]TTCCTGTCTTGCTTTCATTTTCAGTTCAACTGGGACCTCT |
T |
T |
C___8790671_10 |
rs1294826 |
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
Intron |
X |
116442851 |
0.25 |
0.32 |
0.38 |
0.48 |
hCV8790671 |
CAAGGTGATACCAAAGAACCAAATCAACTTCATCTCCCAT[G/A]ACTACTGAGCTTCACCTAACCATTCTGCCTTATACATATT |
C |
C |
C__16078624_10 |
rs2160048 |
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
Intron |
X |
116458968 |
0.31 |
0.18 |
0.43 |
0.42 |
hCV16078624 |
AGATATTGGGTGTGAAGGAATTCCTTTCAGTAGGGGAGGA[A/C]TCTGTCTCTCAAAGAAAAAGATTGCTCAGGCAATCTAAGT |
G |
G |
C__11770486_10 |
|
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
Intron |
X |
116499435 |
0.29 |
0.28 |
0.4 |
0.43 |
hCV11770486 |
ATTTAAATAAGCATTCAAACTATGCTTAAAAACACTGTGT[G/A]CAACAAGCAACACTTGTCTTCTGACTAGGCCACCTGTATG |
C |
C |
C___8790685_10 |
rs1287172 |
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
Intron |
X |
116530215 |
0.26 |
0.48 |
0.05 |
0.05 |
hCV8790685 |
ACATCATGAGATCTAATGGCTTTCTTAGTTATTGGCACGA[C/T]GAAACATGGAGTTGTGTTGCATTTTAATATAGAACAAACC |
A |
A |
C__16005515_10 |
rs2379114 |
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
Intron |
X |
116551384 |
0.34 |
0.43 |
0.07 |
0.08 |
hCV16005515 |
TTATTCAAATATTATTCAAAAGTCTTTTTTCCATTTCATG[C/T]ACATGTATTATCTCTTCAGGTGGACCTTGGAGGTCAGGGA |
A |
A |
C____234369_10 |
rs2379118 |
|
dedicator
of cytokinesis 11|hypothetical protein FLJ32122 |
DOCK11|FLJ32122 |
UTR
3 |
X |
116573875 |
0.14 |
0.07 |
0.13 |
0.16 |
hCV234369 |
CCTGAGAAAGGTCAGTCTCATTGTCACGTACATCTGCATT[G/T]CCTCACACTTCAGCGTATCTTGGGGAACCATAACCTCGGT |
C |
C |
C____408852_10 |
rs2495637 |
|
interleukin
13 receptor, alpha 1 |
IL13RA1 |
|
X |
116614181 |
0.13 |
0.1 |
0.4 |
0.45 |
hCV408852 |
ATATTTATGAAATTGTTCCAGGAACTGTTGAAGACACTCA[T/C]CAAAAGCAAGCTCTGCTAACAGAAAGCTGCAGTCAGTCTG |
A |
A |
C____203510_10 |
rs2489870 |
|
interleukin
13 receptor, alpha 1 |
IL13RA1 |
Intron |
X |
116619995 |
0.11 |
0.09 |
0.41 |
0.44 |
hCV203510 |
CTGTGTGTGTATACAACATGCCTAGACATATATATGATTA[A/C]GTGATGATTATACTACTTGTAAAGGTCTCTAACAGCTCTT |
G |
G |
C____201951_10 |
rs2247035 |
|
interleukin
13 receptor, alpha 1 |
IL13RA1 |
Intron |
X |
116626189 |
0.13 |
0.08 |
0.41 |
0.44 |
hCV201951 |
AGGAGCAGCCCACAGCAGGACAAGGCCTTGTGGAAACAAA[T/G]AATTCCTATTGCACTGCATTAAAACTGAGCTAGTACCAGG |
A |
A |
C____460629_10 |
rs1316954 |
|
interleukin
13 receptor, alpha 1 |
IL13RA1 |
Intron |
X |
116644558 |
0.11 |
0.47 |
0.47 |
0.45 |
hCV460629 |
TAGTGCCCTCCAATCACTGCCAGGTCAATGTTCTAAAACA[C/T]AATGGCTTTCTAAGTGTCTCACTCCACTGTGTGGCTTTAA |
A |
A |
C__15819219_10 |
|
|
interleukin
13 receptor, alpha 1 |
IL13RA1 |
UTR
3 |
X |
116680883 |
0.11 |
0.08 |
0.42 |
0.46 |
hCV15819219 |
CCCAAGGAGTCATTCTACCTCCACTGCCCCTAACAGCCTA[C/A]AATGGCTTTGAAAGGTCTTGGCAAAGAAGCTGCCTCTGGT |
G |
G |
C___8380536_10 |
rs1029943 |
|
hypothetical
protein LOC170261 |
LOC170261 |
|
X |
116717064 |
0.18 |
0.31 |
0.46 |
0.43 |
hCV8380536 |
GGGCCTGAGTGGAGCTGCCACCTGTCTGGGGGTGCACAAG[G/T]GGTCCCTCTTGGCTCTGGAGAGACTGAGATTGCTGCCAGG |
A |
C |
C___2365737_10 |
rs115855 |
|
|
|
|
X |
116758913 |
0.43 |
0.46 |
0.19 |
0.27 |
hCV2365737 |
CTATTTTGTATTATTTCCTGCCTCAAGACCCTTGGCCCTA[A/C]CCTCATCCCAGGACACTTTCCCCAGAAGTCAGTGCATCTC |
G |
G |
C___1599401_10 |
|
|
|
|
|
X |
116824944 |
0.44 |
0.28 |
0.19 |
0.28 |
hCV1599401 |
TTCCAATACGCTGGACAGCAGACAAGAAGAGCAGTGATTC[C/T]CTGAGAGAAAAGAAATAAGTGAGGTGAGCTCTAGGATTGT |
A |
A |
C___1599400_10 |
|
|
|
|
|
X |
116825750 |
0.44 |
0.29 |
0.19 |
0.28 |
hCV1599400 |
TGCTGCAGTACCCATGATTGCTTTTCAAGATAAACCTTTG[C/T]GGAAAAACAGTCCCAAGGAAAAGGGACAAAGCACATTGTG |
A |
A |
C___8380193_10 |
rs1398869 |
|
ring
finger protein 127|hypothetical protein FLJ22612 |
RNF127|FLJ22612 |
Intron |
X |
116865443 |
|
|
0.14 |
0.18 |
hCV8380193 |
CCCTCACCCTTCTCCTCTGTTGCCACCACATTCCCCTGGA[A/G]GTTCTTCCTTGCATCTTTGTTAATCCCCTCAGAGAAGTCA |
G |
G |
C___1607576_1_ |
rs2290514 |
IMS-JST042521 |
ring
finger protein 127|hypothetical protein FLJ22612 |
RNF127|FLJ22612 |
Intron |
X |
116901335 |
0.39 |
0.37 |
0.16 |
0.25 |
hCV1607576 |
AAGCCAGGCTATCCTTGTAACTTGATACACAAAGATAGTT[T/G]TGAAAGGATTTCTCAGAACCCTTGAGGGCCTTGGGATTTC |
T |
T |
C___1607577_1_ |
rs2278954 |
IMS-JST026461 |
ring
finger protein 127|hypothetical protein FLJ22612 |
RNF127|FLJ22612 |
Silent
Mutation |
X |
116902331 |
0.42 |
0.2 |
0.16 |
0.25 |
hCV1607577 |
CTGAGCTCATGGGATTACATAACTGTGTCTATCAGCAAGC[G/A]TCATTGTGGTTTCATTCGCTCAAATTATCCCTAAAGAATC |
G |
G |
C___1607545_10 |
|
|
|
|
|
X |
116970375 |
|
|
0.03 |
0.07 |
hCV1607545 |
GGAACCCATTTTCTGGCCATGAAATAGCAGCAGTTGACTT[C/G]CTCACAGCTTTTAATGGCCTCATGGGCACTATACTCCTAT |
G |
G |
C___2288652_10 |
rs217979 |
|
similar
to solute carrier family 25 , member 16 |
LOC203427 |
Intron |
X |
117289693 |
0.22 |
0 |
0.22 |
0.31 |
hCV2288652 |
ACCCTCTAATATCTCATTCCAACCTGCTTTTCTGGTTGGA[C/T]TTCCTGTTGTGCTGCTTGCCTTCCCACCTCTGTGCATTTG |
G |
G |
C_____12550_10 |
rs217989 |
|
similar
to solute carrier family 25 , member 16 |
LOC203427 |
Intron |
X |
117306637 |
0.46 |
0.42 |
0.39 |
0.39 |
hCV12550 |
GGTTAAACAAGACTTCTGATTACTGTCATTATGTTCAAAA[G/C]AGTTCCAACCTGATGTGCCATTAAATGGGCTGTGTGTGTC |
C |
C |
C___2556209_10 |
rs217994 |
|
similar
to solute carrier family 25 , member 16 |
LOC203427 |
Intron |
X |
117313298 |
0.47 |
0.31 |
0.39 |
0.39 |
hCV2556209 |
TGGTAGGCGGGCTTTCTTCCCAGTCCCTCTGAGCAGTTGT[C/T]GTTCAAGGCTGGCCAAAGACCTGTGTCTACTGAATGGTCT |
G |
G |
C___2262427_10 |
rs403558 |
|
similar
to solute carrier family 25 , member 16 |
LOC203427 |
Intron |
X |
117333386 |
0.24 |
0.23 |
0.4 |
0.44 |
hCV2262427 |
CAACTAATTCCAACTAGTGGGTATGTATAGGGGGGAAGTC[A/G]GCCTAAATGAGTGAAATCTAAATTATGAAATTTTGGAAAG |
C |
C |
C___2556285_10 |
rs1468206 |
|
hypothetical
protein FLJ22965 |
FLJ22965 |
|
X |
117421956 |
0.39 |
0.42 |
0.26 |
0.39 |
hCV2556285 |
GAACAGTTTACAGCTGCTTTCTTCAAGCCTCTCCCTGCAA[G/T]CTCTCTCTCTTGGTAGATGACCAGAGAGGGATCTCCAAAG |
C |
C |
C___2556287_10 |
|
|
hypothetical
protein FLJ22965 |
FLJ22965 |
|
X |
117425904 |
0.38 |
0.44 |
0.1 |
0.25 |
hCV2556287 |
ACCTTCTTCCCAGTTATTTTCCTGTATCCAGTGAAGTCTT[C/T]GCAACCAATTCTTCCTCTCTACCTTGTTTCCCGTCCTCAT |
G |
G |
C___2623347_10 |
|
|
NF-kappa
B-repressing factor|ubiquitin-conjugating enzyme E2A (RAD6 homolog) |
NRF|UBE2A |
|
X |
117476126 |
0.44 |
0.4 |
0.28 |
0.22 |
hCV2623347 |
CAAGTATAACCTCATAACAGCACAGGTGAATTTACCATTG[A/C]TCACTAGACACCTCTAATGAAATGATGTTCAGGACAATTA |
G |
G |
C__16250010_10 |
rs2527609 |
|
NF-kappa
B-repressing factor|septin 6 |
NRF|SEPT6 |
|
X |
117494613 |
0.31 |
0.28 |
0.25 |
0.21 |
hCV16250010 |
TCAGAGAACCTTCCTAAATTCCCTTTCTGGAGTCCCCGCC[T/C]TCCGCTTGTCACCGTAGTGCGTCAAAGGCCCGTAGTCGTC |
G |
G |
C___2623349_10 |
|
|
NF-kappa
B-repressing factor|septin 6 |
NRF|SEPT6 |
|
X |
117494936 |
0.31 |
0.29 |
0.25 |
0.22 |
hCV2623349 |
TGAAACTGGCTAACTTGAGAAGCGGCGCTGTGGATGATTT[C/T]CTTGGCAAGTGTTTCATTTTTACTACGTTTCCGCAGTAAG |
A |
A |
C___2292065_1_ |
|
|
septin
6 |
38236 |
Intron|UTR
3 |
X |
117506414 |
0.32 |
0.29 |
0.2 |
0.19 |
hCV2292065 |
AAACATATGCACGCACTTTTCTTGTTGACAAAGCAAGAAT[A/G]TAGGTTTGCTGTGTAGGTTTGGTGCTCTATTGATTGGTGA |
T |
T |
C___2623372_10 |
|
|
septin
6 |
38236 |
Intron |
X |
117536734 |
0.42 |
0.28 |
0.39 |
0.36 |
hCV2623372 |
GCCAACAAATTAGCATAGCAGGGCAGCAAGTCATTGTCTC[G/T]CCTGACTTCCTGTCCATCAGTACACCCGAGATGTGTTTGT |
C |
C |
C__11674619_10 |
rs1556618 |
|
septin
6 |
38236 |
Intron |
X |
117577049 |
0.16 |
0.16 |
0.21 |
0.11 |
hCV11674619 |
GGAAAAGATTGCTGCTGCACTCTGGTTTTGCTATCATCAC[C/G]TGGCAGTTACCCTTTGATTCCCTTTGAGGTCTCTGCTTCA |
G |
G |
C__11224803_10 |
rs2873171 |
|
septin
6 |
38236 |
|
X |
117583581 |
0.02 |
0.45 |
0.28 |
0.19 |
hCV11224803 |
ATTCCGTGCTCAGGTGCCCCCAGCGCTGGGCCGGTAAGTA[C/T]GGAGCTTCAGTCCGCGAGGAGTGCTAAGGCGGGCGGGGCA |
A |
A |
C__16242342_10 |
rs2528724 |
|
|
|
|
X |
117643077 |
0.22 |
0.14 |
0.26 |
0.21 |
hCV16242342 |
TCAGAAAAATCCATGAGTGCAAAACAGTTGAGAAGCAGAT[A/G]TGTGGAATATGGGAAGTAAAGTCCCTCAGGCGTCCATAAC |
C |
C |
C__15933468_10 |
rs2782219 |
|
|
|
|
X |
117643256 |
0.23 |
0.13 |
0.24 |
0.22 |
hCV15933468 |
AAAATCTATCTTGATGAAGAGAGCAGCTCAGAAATCTTAG[G/T]GGATGTCAGTAGGAAATCATAGTTGATCTGCAAAAATTTA |
C |
C |
C__16173567_10 |
rs2239006 |
|
NADH
dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa|zinc finger protein
183 (RING finger, C3HC4 type) |
NDUFA1|ZNF183 |
Intron |
X |
117760151 |
|
|
0 |
0.07 |
hCV16173567 |
GCAAGTAGAGGGCCGACCTCGGAGAGAGGGTTCGCAGGCT[A/G]ACGGTCTCCCTGCCCACCACCCTTTTCGGAAATCAGCCCG |
#N/A |
#N/A |
C___2543713_10 |
rs194296 |
|
A-kinase
anchoring protein 28|NF-kappaB activating protein|hypothetical protein
FLJ22626 |
AKAP28|NKAP|FLJ22626 |
Intron |
X |
117814724 |
0.42 |
0.23 |
0.23 |
0.46 |
hCV2543713 |
TATCTATCCTACTTCCAATTCCACAAAGGCAAATGGATAT[A/G]TCACCTAGGAAGTTTAATAATTTGCCCATTTCTGATTGTT |
T |
T |
C___2572478_10 |
|
|
NF-kappaB
activating protein|hypothetical protein FLJ22626 |
NKAP|FLJ22626 |
|
X |
117836815 |
0.34 |
0.24 |
0.12 |
0.33 |
hCV2572478 |
AGTCCCCTAGGGACCCGGTGGGCAGCAGAGCACTCAAATT[C/T]TCCATCCATGTCTAGCACTGAGCTCTGCTTCATTCAATGT |
A |
A |
C___8379823_10 |
|
|
|
|
|
X |
117859262 |
0.45 |
0.35 |
0.12 |
0.33 |
hCV8379823 |
CCCAATCTTTTTGCAAAGCAAAATCTGCCAACCGAAAATA[C/T]AACCCATGGGCAAGAGCCAGTTCTGTGCTTGTGTTAAATT |
G |
G |
C___2572506_1_ |
rs2301976 |
IMS-JST058216 |
|
|
|
X |
117886391 |
|
|
0.14 |
0.19 |
hCV2572506 |
AGTGCTCTTTTAAATTCTGCACACCAAGGACAGCCATCCC[A/T]AATGCAAGCCTGGGGCTAGGTATCACAGAAAAATATGCTG |
T |
T |
C__11770829_10 |
|
|
paired-like
homeobox protein OTEX |
OTEX |
|
X |
118010447 |
0.12 |
0.3 |
0.17 |
0.03 |
hCV11770829 |
TCACCACAGTATAACCCATGGAATATGTGACATAACAGAA[T/G]AAGCCTGGTTAGGAGTCACACATTTGGTTCTTTTGGAGAT |
G |
G |
C___8380629_10 |
|
|
|
|
|
X |
118088601 |
0.03 |
0.27 |
0.09 |
0.18 |
hCV8380629 |
ACAGGCCTTAGCTCCAATCAGGGGAATGGCAGAAAGCTTT[C/T]GTGCAGTTTCCTAGTCACGTTTTTAACTTGCCTCCTTTCA |
A |
A |
C____177644_10 |
|
|
hypothetical
protein FLJ20716 |
FLJ20716 |
Intron |
X |
118157832 |
0.36 |
0.39 |
0.12 |
0.09 |
hCV177644 |
GGCTTAATTTATTTAGATAGAAGAGCTGGTTTCATTTTGC[A/G]AGAGCTGGAGGGTGTGTTTTTAATTGACAGTATGCCAAGG |
T |
T |
C__15854568_10 |
rs2231244 |
|
ATPase,
(Na+)/K+ transporting, beta 4 polypeptide |
ATP1B4 |
Intron |
X |
118266866 |
0.02 |
0.09 |
0.11 |
0.1 |
hCV15854568 |
AGATATGGAAAGGAGTGTGGTTGTGATAAGAATTGGTAAA[A/G]GGAGCTCCTGGTTATGGCCAGCAGCTATTTACCCCTCTAC |
T |
T |
C___2256951_10 |
rs42889 |
|
lysosomal-associated
membrane protein 2 |
LAMP2 |
Intron|UTR
3 |
X |
118325643 |
0.35 |
0.05 |
0.23 |
0.1 |
hCV2256951 |
AATGGTTCTGTGCTAATCAAAACTTTCGTTGTTATTATTC[A/G]TTATGGTAGAATCATTTTTAATTCACGTGCTTTGTGTTCA |
T |
T |
C__15870215_10 |
rs2072067 |
|
lysosomal-associated
membrane protein 2 |
LAMP2 |
Intron |
X |
118334759 |
|
|
0.33 |
0.34 |
hCV15870215 |
TCTCCAGCTATTTGATTACTCGGATCGTGTAGACATGCCC[G/A]AGTACATGATGGCACTTCTAGTTGCAATGTTCCACTCAGG |
T |
T |
C__15756531_10 |
rs2301636 |
IMS-JST057759 |
cullin
4B|malignant T cell amplified sequence 1|MCT-1 protein |
CUL4B|MCTS1|MCT-1 |
Intron |
X |
118445693 |
0.41 |
0.2 |
0.49 |
0.33 |
hCV15756531 |
GACCACGTATTCTCACATAAACCATGGGTACAGTCATACC[G/A]GTATAAGTTGTGCTTATATTTGACCCTCCTGATAAGAAAT |
T |
T |
C__11610411_10 |
rs1978413 |
|
|
|
|
X |
118697477 |
0.29 |
0.08 |
0.14 |
0.06 |
hCV11610411 |
GACTAGGGAAACTGTGCCAGATCAGGGTTGGGAGTGGCAA[A/C]TGCTATTGTTTGGTCTCTCCAATATAAGAATGTAAGAGTG |
G |
G |
C___2471224_10 |
|
|
|
|
|
X |
120941063 |
0.08 |
0.29 |
0.38 |
0.47 |
hCV2471224 |
CATTACATTTTATATTGCTTCATTGGCCAAATCAAGCCAC[A/G]TGTACAAGTCTGGAGTCAATATAAAGGGTGCTGCCTAAGA |
G |
G |
C____328384_10 |
rs1008387 |
|
|
|
|
X |
120951008 |
0.08 |
0.32 |
0.34 |
0.45 |
hCV328384 |
AAATTCCATGAGGAAGAAACAAACTCCAAAATCACATACA[A/G]AAACATCTATTATAAATCACCTTTGATCCAGAAAGAATAC |
G |
G |
C__15876979_10 |
rs2187797 |
IMS-JST023762 |
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121024996 |
|
|
0.4 |
0.45 |
hCV15876979 |
GTTTAAGGGAAGTCAGACAGCTGAGGAGCAGATGTTACAT[T/G]CCTCCTTCTGGCATGCCTTGACCCAGAGAAGCAAAGTGGA |
A |
C |
C__11178483_1_ |
rs3752471 |
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron|UTR
3 |
X |
121036092 |
0.02 |
0.23 |
0.16 |
0.27 |
hCV11178483 |
CACACACCCAGGCTGAACTTCTTTCTTTCTTCTCCCTCCA[C/T]GATGCTCACTCAGTTGAGAACTCAAGAAGGGAGGAGGTAG |
G |
G |
C___8817251_10 |
rs989638 |
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121070862 |
0.26 |
0.15 |
0.12 |
0.05 |
hCV8817251 |
GGTCAGATAAAATTTTGAGGGCCGTTAGTGACAGTCAGGG[A/G]AGATCTGAGTCTTTTAGTTGTCCTCTAGGAGAATGACTCT |
C |
C |
C___2471178_10 |
|
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121079298 |
0.35 |
0.39 |
0.18 |
0.05 |
hCV2471178 |
TTCTGGGTGGTAATGGGTTAAAGAAACTCTGCCAATTTGG[A/C]TCAAGAAGATGCCATTGTCCTCTGTCTCTTCCCTCCCTAT |
G |
G |
C___1838804_1_ |
rs3747322 |
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121084691 |
0.36 |
0.32 |
0.19 |
0.06 |
hCV1838804 |
TACAGGTACACATTCTCTATGTGCACAATGAGCTGGAAAC[T/C]AAGAAAATGTGGGAAAAATAGAGGTGAAAGTCGTCTTACT |
A |
A |
C__11178611_10 |
|
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121182395 |
0 |
0.16 |
0.09 |
0.08 |
hCV11178611 |
CAATCCTTATTCACTGAAGCTTTATCAGTAGAGTTTCATT[C/T]GTAGAAGAAAGAGCTCTTACATACTAACACACAGAGTGAT |
A |
A |
C__15954817_10 |
rs2227098 |
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121192717 |
0.45 |
0.43 |
0.34 |
0.26 |
hCV15954817 |
ATAGGCCCTTCTGTTTTTCAAGTACATTCTGAGATCTGGT[A/G]AGCTGCAGAGTTCACTTCCTCAAGCTTGTTGAAGCTCCTG |
T |
T |
C____881577_1_ |
rs504096 |
IMS-JST071335 |
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121235173 |
0.32 |
0.47 |
0.4 |
0.33 |
hCV881577 |
GAGGTCTTTTCTACTGGTGGAAAAATACTTTTCAGAAAAC[A/G]GAAGTCTTGCTGGACAGAAAGCCCACCTACCTTCTGTTCA |
C |
C |
C___1822186_10 |
|
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121259903 |
0.26 |
0.3 |
0.24 |
0.38 |
hCV1822186 |
TTGTTATGTCTTACTCAAGTCTTGGTTCTAAACGACAATG[G/A]AGTAGATCACCAACCAAGCAGCCCAGTATTTAAGATGCTC |
C |
C |
C___1822188_10 |
rs524654 |
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121268685 |
0.2 |
0.17 |
0.29 |
0.4 |
hCV1822188 |
CATCATCTAGTAGGCTTTTGGGGAAAAAATTCTTATCAAG[G/T]TTTTGTGTGTCTAAGTTGCCTTTTCCTTTCAAAAGTGGAG |
A |
A |
C____881624_10 |
|
|
glutamate
receptor, ionotrophic, AMPA 3 |
GRIA3 |
Intron |
X |
121300354 |
0.21 |
0.08 |
0.11 |
0.1 |
hCV881624 |
TTAACGAGATGGGACACAATGAAGAGATGTAAATCTCAAG[T/C]CATTTTGCTAATACAGTAAAACCTCACTGATTTGGAGGAA |
A |
A |
C___2492025_10 |
rs3765260 |
|
|
|
|
X |
121464298 |
0.42 |
0.36 |
0.32 |
0.21 |
hCV2492025 |
ATTCTGGAAATAGGGCCTATTTCTATGTAAATTGTGATAT[A/T]TAAGAGATAGCTCCAAGAGATGTTATATGTAAGGCTGTCA |
T |
T |
C___1258853_10 |
|
|
baculoviral
IAP repeat-containing 4 |
BIRC4 |
Intron |
X |
121701994 |
0.28 |
0.12 |
0.19 |
0.08 |
hCV1258853 |
CTGTGCTACAAACCAAATTTAAACGATACAACATATTTCA[C/T]GAGTGTCCGCATGTACCCAAATACTATCTACAAACTAATT |
G |
G |
C__11178410_10 |
|
|
baculoviral
IAP repeat-containing 4 |
BIRC4 |
Intron |
X |
121731982 |
0.44 |
0.36 |
0.48 |
0.34 |
hCV11178410 |
ATATAGTTAAAATGAAAAAATTAAGGAGCAAGCGAAAGAA[T/C]AAAAACAAACCAGCAAAGCAAAGCTGCTTTGGGAAGATTT |
A |
G |
C___8817340_10 |
|
|
stromal
antigen 2 |
STAG2 |
Intron |
X |
121931182 |
0.27 |
0.22 |
0.36 |
0.47 |
hCV8817340 |
TTTGCAGATCCAGAAACAAGTATCTGATTGCAGCCTCTTT[C/A]TAATGAATTATCAAGTAGTGTTTGGAATCCCAAGTAATGA |
G |
T |
C__11881211_10 |
|
|
|
|
|
X |
122026209 |
|
|
0.18 |
0.27 |
hCV11881211 |
ACAAATTTCGGTTATTTGTCTAATTAAATTATCCCTAGCC[C/A]TTCGCTTAGCTATCATTAGAATATGCTTCTTCCCTCTCTA |
T |
T |
C__11881216_10 |
|
|
|
|
|
X |
122026771 |
|
|
0.31 |
0.48 |
hCV11881216 |
TTGGTCAGCTGAAATGCCAGCACAGCTGCGGGTAGACAGG[A/G]ACTTGGCTGTTAACCCAGGTAGCAGTTTCATGACCTAAAT |
T |
T |
C__11881218_10 |
|
|
|
|
|
X |
122040031 |
0.14 |
0.4 |
0.38 |
0.24 |
hCV11881218 |
AATTGGTAGGGAAAGCATGAATTGTTCAATAAATTGTACA[A/G]CACTACTTGGAAAAAAATAGTTAAACTCTCACTTCATGCC |
T |
T |
C___8878529_10 |
rs15910 |
|
SH2
domain protein 1A, Duncan's disease (lymphoproliferative syndrome)|odz, odd
Oz/ten-m homolog 1(Drosophila) |
SH2D1A|ODZ1 |
|
X |
122208950 |
0.13 |
0.07 |
0.5 |
0.41 |
hCV8878529 |
AAATGTATAAAATAAGTGTGTCCTTTACTGTCAATTTATC[G/T]AGAAGATCTATAATATATAGACTACATATATATAATATAT |
A |
C |
C___2451159_10 |
|
|
SH2
domain protein 1A, Duncan's disease (lymphoproliferative syndrome)|odz, odd
Oz/ten-m homolog 1(Drosophila) |
SH2D1A|ODZ1 |
|
X |
122211761 |
0.3 |
0.48 |
0.5 |
0.39 |
hCV2451159 |
TGTGAGAAGCAGTTTCATCCTTAACTGTTGGCAGAACTTA[C/T]GGGCTATTTGAATAGGTGGTGCAATAGTATCTGAAACTTG |
A |
A |
C___2451165_1_ |
rs2239478 |
IMS-JST010630 |
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122233978 |
0.42 |
0.27 |
0.46 |
0.43 |
hCV2451165 |
GATTTGCGGACTGGACTATAAGGGCAACAAATTCAAGGCC[T/C]TCTTCTCTATATCACTTCTAGGCTACTCCCTGAGGTCCTG |
G |
A |
C___2451166_1_ |
rs960869 |
IMS-JST009043 |
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Silent
Mutation |
X |
122238070 |
0.47 |
0.4 |
0.47 |
0.41 |
hCV2451166 |
TGGTTACATTCCTCAGGTATGACCCCGAGGGACACCTGAC[A/C]AATGCAACGTTTCCCACTGGAGAGGTCAGCAGCTTCCACA |
G |
T |
C___2451175_1_ |
rs2239477 |
IMS-JST010629 |
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122242832 |
0.14 |
0.13 |
0.37 |
0.49 |
hCV2451175 |
TTATCTAGGAATCTTTAGCTTGCCTCTCTGAATATACCAC[C/T]GTCAATATGGGGAGGAGGGATGGGTACAAAATATGTAGGA |
A |
A |
C___2451184_1_ |
rs2266910 |
IMS-JST020158 |
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122265157 |
0.33 |
0.25 |
0.11 |
0.15 |
hCV2451184 |
CTAGGAAAACAAAAATAAAAGAGTTCTCATCTTTGCCGTC[A/G]AAAACTCATAGTCTTGGTAGAGAACATAGGAAGACAAACA |
C |
C |
C___2472114_10 |
|
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122298638 |
0.47 |
0.26 |
0.23 |
0.34 |
hCV2472114 |
CCCCATTTTACCTGTATTTACTCAGGAAAGGAAGCTGACT[A/G]CAGTGGTAATTTCTCTTAGTGGGCAGGAATTATTTCTCAT |
T |
T |
C_____11390_10 |
rs726834 |
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122305242 |
|
|
0.28 |
0.34 |
hCV11390 |
AGAAAGACAAGCCTAGGTGGGAACCACTGAAGGTAGCATG[C/G]AGAAGTGTGGTGCTAGGTATATGGCAGAATAGCTGCAAAG |
G |
G |
C____333857_10 |
|
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122307449 |
0.48 |
0.23 |
0.47 |
0.44 |
hCV333857 |
ATTTTATCCTATAGGGAAAGGATTTGAAGCAGGAGAGATG[A/C]CCACCTTGTGCATGCGTTTTTGATAATGTTGGCGACAGGG |
G |
G |
C____339997_10 |
rs2050030 |
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122311887 |
0.31 |
0.19 |
0.25 |
0.32 |
hCV339997 |
TAAAGCCCCTCTGGCTAACCCCATACCATTAAATCTGAAT[G/T]TATTTAACAGTGTCTACACTACACAATTAGCACTTGATTT |
A |
A |
C__16136970_10 |
rs2858439 |
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122399378 |
0.21 |
0.25 |
0.29 |
0.29 |
hCV16136970 |
GGAACAGAATGATAATATCAGCCTTACTACAAGGACTGAA[G/A]TTATAAATACAAATTATCAGAGATTCAGACCAAGATTCGG |
T |
T |
C___2466908_10 |
|
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122437986 |
0.05 |
0.3 |
0.41 |
0.28 |
hCV2466908 |
CAGTCCTGTGTCCTAAATGGAACACTTAGGTATCTTTAAA[C/T]AGTCAATGGGACAGCATGTTACTTAGAAAGGATTAAGATT |
G |
G |
C___2468430_10 |
|
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122504884 |
0.08 |
0.43 |
0.1 |
0.11 |
hCV2468430 |
TGTGCTCCACAATATGGCTCTAATCTTCCTTTCTGGCGTT[A/G]ACTTCCACTGGCACCAGCACATAGCTAAGCTCCAGTGAAC |
C |
C |
C___2480536_10 |
rs2206237 |
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122527048 |
0.05 |
0.49 |
0.12 |
0.09 |
hCV2480536 |
CTGTTTCATTACCAAAGCCCATAGTCTCAATCTCCCTTTG[C/T]GTTTCCCTCCCCAAATCAGGAACTTAGTCCTGTCTTCTAC |
A |
A |
C____343663_10 |
|
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122529793 |
0.07 |
0.36 |
0.02 |
0.06 |
hCV343663 |
AAACTTTGGAGGTAACTACCGTTGAGGACACCAAAATCGT[A/G]GGAGTAGGAAGGAAAAAGGAGTATGAAGACTTGAACTCTG |
C |
C |
C____328663_10 |
|
|
odz,
odd Oz/ten-m homolog 1(Drosophila) |
ODZ1 |
Intron |
X |
122547427 |
0.03 |
0.23 |
0.12 |
0.11 |
hCV328663 |
AAATGATACAGAAAAGTATACCATGTCAACTGGCTCATAA[G/A]ATAAACCAGGAAAAGACATGTCTGTGGAAAATGAAGTTGA |
C |
C |
C___2473094_10 |
rs735933 |
|
|
|
|
X |
122912309 |
0.15 |
0.18 |
0.05 |
0.25 |
hCV2473094 |
TTAACATTGTGCCAGAAAAGAAATTCTGGAGTCACAGGTA[G/A]ACAAAAGACCAGAAAGGCAGTAAAAAGTTACTAGCTCGGG |
T |
T |
C__12055888_10 |
rs1894540 |
|
|
|
|
X |
123157261 |
0.1 |
0.27 |
0.12 |
0.16 |
hCV12055888 |
CACCACTACCATGGCTGAGTAGATAAGGCAGGAAGGGAAG[C/T]CAGACCAAGATGTTCTGGAAAGACAGGGAGCTATCAAAAA |
G |
G |
C__12055889_10 |
rs767216 |
|
|
|
|
X |
123163795 |
0.11 |
0.34 |
0.09 |
0.11 |
hCV12055889 |
TGGCCCCAGAACCACAGAAATGGATCTGGATGTTACTTCA[A/G]TTGGTTTTATCCAAGGTCACGCTATATGCAAGGCAAAGAA |
C |
C |
C___8337244_10 |
|
|
|
|
|
X |
123640928 |
0.32 |
0.03 |
0.09 |
0.08 |
hCV8337244 |
CATCCTCCCTGTGTATTCTCTCAATATCGGCATACTTTAC[A/G]CTGTCTTCTTTTTGGACTAAAAATGGTCAGTTGTTTGGTA |
T |
T |
C___8337243_10 |
rs998890 |
|
|
|
|
X |
123641137 |
0.32 |
0.13 |
0.09 |
0.08 |
hCV8337243 |
AAGTAAGAGATATGGAAGTAAGAATGTTCTTGCATCGTCT[G/A]CTACCATTTCACTATACCTCCAGCATATCTTATCTATTCC |
C |
C |
C___2472893_10 |
rs1467409 |
|
|
|
|
X |
123642448 |
0.18 |
0.31 |
0 |
0.19 |
hCV2472893 |
CAAAAGTCTAAAGAGAACAAAATAGCATGGATGGGTAATG[C/T]TGAAGAAGAGGATGCTTCATCCTAGTCTAGATTGTAGGAA |
G |
G |
C___1489111_10 |
|
|
|
|
|
X |
124001741 |
0.35 |
0.33 |
0.29 |
0.49 |
hCV1489111 |
CCTGGTCTGTTGCACCCAGTTTAAGTTATACCCAACGTAT[G/A]AGATGTCACTGAAGAAAATCCAAGAAGGAGACCACGAAAA |
T |
T |
C___1489110_10 |
|
|
|
|
|
X |
124004811 |
0.4 |
0.32 |
0.37 |
0.44 |
hCV1489110 |
TTAATGGCAGCATTGCCTGGCACAGCGAGGTGGGTCTCCC[C/A]GTATATGCCCACATCCGTCCGAGGGATGTGGAGGCCATCC |
G |
T |
C___1489107_10 |
|
|
|
|
|
X |
124008858 |
0.05 |
0.3 |
0.24 |
0.29 |
hCV1489107 |
GTCTGGAAGTTGTTTGTACAGCTTTAAAGAGCTTAGAGAA[C/A]TTTGAAAGCCTAGCGTAAAAGAAATGTGTTTCAGGTATAA |
G |
G |
C___1489106_10 |
|
|
|
|
|
X |
124009390 |
0.37 |
0.33 |
0.3 |
0.5 |
hCV1489106 |
TCATAAACCATTGACTACTTACCTAGGACGGTGTGATGGT[G/A]CAAAATAAGTAGGAAACATGTAACCTTTTGAGGAGCTTAC |
C |
C |
C__15877520_10 |
rs2269777 |
IMS-JST024072 |
|
|
|
X |
124661051 |
0.43 |
0.11 |
0.49 |
0.46 |
hCV15877520 |
ATCCCTTTCTCACTATGCCTCTTCCTTTTGCTCCTCCTCC[A/G]ATATTTGGTCCTCCACTGCCTTCTTATTTTGCCCATTTCC |
G |
A |
C__11783905_10 |
|
|
|
|
|
X |
124661800 |
|
|
0.44 |
0.37 |
hCV11783905 |
TAGCAGTCATAGGCAGAACCAAGTTGAAAAGTCAGGAAAG[A/G]AGGAGGAGGGAAGATGGAAGAGTATTCTTAGACCACTGCT |
G |
G |
C____236712_10 |
rs2340242 |
|
|
|
|
X |
126271518 |
0.23 |
0.16 |
0.21 |
0.15 |
hCV236712 |
AATTGAATGTCCTTTCTGTGTGATCTCAGGGCACTCTGCA[T/A]TTTTTCCCCATCAAAACACCCACAAAACTGTATAGTAAAT |
T |
T |
C__11614697_10 |
rs16315 |
|
|
|
|
X |
126540141 |
0.18 |
0.43 |
0.25 |
0.3 |
hCV11614697 |
TCAGAGAGGTCAAAAACCTTCTGTTATTGTGATCCCTGGA[A/G]CTAACTGGGTTCCTGTTCCTTTAGGTTCTGGCTTTTTAAC |
A |
A |
C___2461658_1_ |
rs916208 |
IMS-JST023692 |
|
|
|
X |
126646874 |
0.44 |
0.3 |
0.24 |
0.49 |
hCV2461658 |
GTGCTCTAAACAACCTATGCAAAGGGCAAGACTTCCCTGC[A/G]TCAATAATAATGGAGACTGTGAAGCAAAACAATTCATCTC |
G |
A |
C___2465719_10 |
|
|
|
|
|
X |
127073160 |
0.47 |
0.37 |
0.49 |
0.32 |
hCV2465719 |
AAAGACACTTCTTTGCTGAGCATTATGGCCCTCAAGAAGC[A/C]TCTGATTTCTGTTCCATCATAGTTGAAGAAGAATGGGCAG |
A |
C |
C___2465714_10 |
rs1883105 |
|
|
|
|
X |
127075397 |
0.42 |
0.24 |
0.33 |
0.37 |
hCV2465714 |
ATCATTAAACAGCTGCTCAGAATGGCCTTATTAAAACAAA[T/C]ACGGTTGCACTGTTTTATGCACGTGTTATATTGCAGTGAG |
T |
C |
C__16161250_10 |
rs2206013 |
|
|
|
|
X |
127252958 |
0.06 |
0.32 |
0.36 |
0.48 |
hCV16161250 |
CAAATACTCGTCATCACCCCTTCTTCCATCTTGTTGTCTA[C/G]TGTATTAACTTTGTTATTAAATCATCCTCAACTATCACTA |
C |
G |
C___8929373_10 |
rs1324150 |
|
SWI/SNF
related, matrix associated, actin dependentregulator of chromatin, subfamily
a, member 1 |
SMARCA1 |
Intron |
X |
127290483 |
0.09 |
0.27 |
0.31 |
0.49 |
hCV8929373 |
ATGTTGTATGCCATTTTTTTTGGATTTTATTTGGAAAGAT[A/G]AAACTGAATTTTAAACAATTTTCCATTCTTAAAAAGTTAC |
G |
A |
C___3116514_10 |
|
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 1 |
SMARCA1 |
Intron |
X |
127299827 |
0.24 |
0.09 |
0.25 |
0.22 |
hCV3116514 |
GGGTTCTTCTTGACTATAGAATTAAAATATTTAAAACCAC[A/G]TATTTATGCACTTAGGAGTTTATTACCTCCTCATGCACTT |
G |
G |
C___3116509_10 |
|
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 1 |
SMARCA1 |
Intron |
X |
127316357 |
0.13 |
0.33 |
0.43 |
0.42 |
hCV3116509 |
CTTCTCAAGGCATAGCTAGCATTGCTTTATTTCCCCCTTG[C/T]ACCTTCAGAAAACTCATCAGGGCCACAAAGTAAATAGAGC |
T |
C |
C__16180659_10 |
rs2274093 |
IMS-JST069850 |
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 1 |
SMARCA1 |
Intron |
X |
127331492 |
0.12 |
0.08 |
0.3 |
0.44 |
hCV16180659 |
TCTTTAATGGTGTCAGAAATTTATCATAGCTCTGAATACT[A/G]TTGCTATTTACACACATAAAGGTCATTTATGATAAAAAGG |
G |
G |
C__11614536_1_ |
rs1883252 |
IMS-JST007285 |
oculocerebrorenal
syndrome of Lowe |
OCRL |
Intron |
X |
127408390 |
0.02 |
0.41 |
0.27 |
0.23 |
hCV11614536 |
TGGTTTAAAGGAGAAATCAATACTGTTATTCCTCTCCAAA[G/A]ATTAAGCCCAGTCTAGGAAGAGAAGATTGGAGTTTTAGAC |
T |
T |
C___8929481_1_ |
rs1159042 |
|
oculocerebrorenal
syndrome of Lowe |
OCRL |
Intron |
X |
127427907 |
|
|
0.31 |
0.34 |
hCV8929481 |
TCCTTTGCGACCAAAGCTTAAGAAGCTGGATGAGTACTTG[G/A]TCAAACTCTTCTTCGCACCTATATTTGATTTTTGTGGTTC |
T |
T |
C__11614573_1_ |
rs2050011 |
IMS-JST010635 |
X-prolyl
aminopeptidase (aminopeptidase P) 2, membrane-bound |
XPNPEP2 |
|
X |
127577201 |
0.38 |
0.19 |
0.21 |
0.18 |
hCV11614573 |
CCCTCTTCAAAATGGCCTATTTTGTCATTCTTGAATGGAT[G/T]GTTGAAAGTTGCTTTACACTTGATGTGGACATAAGCAGAC |
C |
C |
C____342542_1_ |
rs3747343 |
|
X-prolyl
aminopeptidase (aminopeptidase P) 2, membrane-bound |
XPNPEP2 |
Silent
Mutation |
X |
127586237 |
0.35 |
0.17 |
0.24 |
0.18 |
hCV342542 |
GCACCACTCCTATTGTCACCTGGCTCCTCACCGAGATTCC[C/T]GCTGGAGGGCGTGTGGGTTTTGACCCCTTCCTCTTGTCCA |
A |
A |
C___8929558_10 |
rs865195 |
|
X-prolyl
aminopeptidase (aminopeptidase P) 2, membrane-bound|chromosome X open reading
frame 9 |
XPNPEP2|CXorf9 |
|
X |
127618904 |
|
|
0.26 |
0.14 |
hCV8929558 |
GATGACTGTAGGGACGATGGTTATAGGGGTGAGAGGGTCA[C/T]GAGTGCGGTTGGCTGTAATGTCCAGAAGGGTGACAGCTGT |
G |
G |
C__11614627_10 |
rs859588 |
|
chromosome
X open reading frame 9|zinc finger, DHHC domain containing 9 |
CXorf9|ZDHHC9 |
|
X |
127639837 |
0 |
0.09 |
0.49 |
0.41 |
hCV11614627 |
CCTTTAAGCTATGTCGTTCAACAGAATCTGTGTTTTATGA[T/C]GAATAATCATCATGTCTCGTATTTGGGCAGAAAACCCCAA |
G |
A |
C__15879180_10 |
rs2275605 |
IMS-JST071834 |
zinc
finger, DHHC domain containing 9 |
ZDHHC9 |
Intron |
X |
127663263 |
0.03 |
0.19 |
0.47 |
0.45 |
hCV15879180 |
CTTTCTAGTTCAACTCAGCCTTTTCCCTAGGCAATGTCCC[T/C]GTAGTTTTACTCACCCACACAGTTGTCACAGATGCTGCAA |
G |
A |
C___7455615_1_ |
rs1771610 |
IMS-JST052798 |
zinc
finger, DHHC domain containing 9 |
ZDHHC9 |
Intron |
X |
127680544 |
0 |
0.23 |
0.49 |
0.43 |
hCV7455615 |
ACCCATGTACATACACCATAGCACGCTCACCTCAGGTGTG[C/G]CTTACAGTCCACACACACACCTCTTGGCTCTCAAAGGCCT |
G |
G |
C___1259956_10 |
|
|
|
|
|
X |
127710658 |
0.05 |
0.4 |
0.42 |
0.45 |
hCV1259956 |
AAGCTCAATTCCACCATTCCTACCTTCCATCCACCCCTTC[T/C]AATAAAGTGGTAGCATTATTTTTATTTCCTCTAATAGATA |
G |
A |
C__15952962_10 |
rs2235731 |
|
serologically
defined colon cancer antigen 16 |
SDCCAG16 |
Intron |
X |
127745869 |
|
|
0.13 |
0.21 |
hCV15952962 |
CAGAGAGGTGAAGGGCAACGAGGGGAGGGGGGATTCTGGG[A/T]CTCGTTGGGGGCCGGGTTCCCCAGCTTTTGGGAAATGGGA |
T |
T |
C___1259943_10 |
|
|
serologically
defined colon cancer antigen 16 |
SDCCAG16 |
|
X |
127779153 |
0.14 |
0.33 |
0.37 |
0.25 |
hCV1259943 |
GGCAAAATGCTGGGCATTGAGGAGTTACCCTAATATCTGA[G/A]CAGAGACAATAGGGATAAGAGTTCCCTACCAGGCCAGGCA |
T |
T |
C___3073787_10 |
|
|
E74-like
factor 4 (ets domain transcription factor) |
ELF4 |
Intron |
X |
127934559 |
0.1 |
0.27 |
0.21 |
0.27 |
hCV3073787 |
AGACCACAGTGGCCACACCCACCACCCTCGGCCCACCAGC[A/G]GCTCAGGTCACTGCCAACCCCACAAGTGCTCACCCTGAGC |
G |
G |
C___3154402_1_ |
rs210023 |
|
programmed
cell death 8 (apoptosis-inducing factor) |
PDCD8 |
Intron |
X |
127971017 |
0.3 |
0.22 |
0.07 |
0.21 |
hCV3154402 |
GTGGGTATCTGTCCTAGACAGTGGACAGTGGCTAGCTCAA[T/C]GACACTGCTGTTTTGTGTGTCTCTGGGAAGACCTTTCTAA |
C |
C |
C____969866_1_ |
rs209998 |
IMS-JST011058 |
programmed
cell death 8 (apoptosis-inducing factor) |
PDCD8 |
Intron |
X |
127975603 |
0.33 |
0.32 |
0.05 |
0.18 |
hCV969866 |
GGTAAGTGTGCTACAGCATGACCAGGCATAATTCATTCTC[T/C]CTAGCCTGTGAACAAGTCTGCCCGGTGGTGTGCTAAAGCT |
T |
T |
C___7455571_1_ |
rs210004 |
IMS-JST011059 |
programmed
cell death 8 (apoptosis-inducing factor) |
PDCD8 |
Intron |
X |
127987854 |
0.35 |
0.27 |
0.07 |
0.21 |
hCV7455571 |
CCCCAATTGACCTCCTGGATTTTCTCCCTTTGTTGCTAAC[A/G]GAAGGTGAAACTGAGCCTGATATTTTCCTGGTGATCACTA |
A |
A |
C____969879_10 |
rs189994 |
|
programmed
cell death 8 (apoptosis-inducing factor) |
PDCD8 |
Intron |
X |
127996322 |
0.34 |
0.28 |
0.07 |
0.22 |
hCV969879 |
TGTAGTATTTATATATGCAGTTTTGATGATATTTTTCTTG[A/G]TCATTTAACGGTGAATATCTGTGGGCAATAAGTCTTGTAC |
G |
G |
C____969885_10 |
rs23963 |
|
RAB33A,
member RAS oncogene family|programmed cell death 8 (apoptosis-inducing
factor) |
RAB33A|PDCD8 |
Intron |
X |
128002017 |
0.33 |
0.26 |
0.07 |
0.22 |
hCV969885 |
ATGTTTCCAAAAGTTGCCTGCTCATGTGAATCGAGTAGAG[G/A]ACCAGTTCCTAACCTTCTCCAGGAGATAATTCTGGGAATC |
G |
G |
C____969889_10 |
|
|
RAB33A,
member RAS oncogene family|programmed cell death 8 (apoptosis-inducing
factor) |
RAB33A|PDCD8 |
|
X |
128006609 |
0.33 |
0.33 |
0.06 |
0.2 |
hCV969889 |
TCCATCCCATAGTCTTCTCTCTTGCTCTGTCCGGCACTAC[A/G]CCAGATATTATTTCAATGACCGGTATATGTCATCTCCCCA |
G |
G |
C____969900_10 |
rs559006 |
|
RAB33A,
member RAS oncogene family |
RAB33A |
|
X |
128030816 |
0.32 |
0.13 |
0.38 |
0.42 |
hCV969900 |
TCTCTCAGCACATCTGTGTGCCCTCCTCTGCCCCCAGCAC[A/G]CACTGAGGGTGGGCTGAGTCAGCTTCCCTCAAGGGGTGGG |
A |
A |
C___3154448_10 |
rs209219 |
|
hypothetical
protein FLJ20095 |
FLJ20095 |
Intron |
X |
128087405 |
0.32 |
0.27 |
0.38 |
0.42 |
hCV3154448 |
TTTTCAGTCTAGTACCTCATGCCTGCTTTGCCCTGTGCCT[C/G]ATATACCTGAATCTGGTTCCGTTTTTCTAGTATATCTCCT |
C |
C |
C___8929599_10 |
rs926640 |
|
|
|
|
X |
128167976 |
0.38 |
0.19 |
0.45 |
0.41 |
hCV8929599 |
CATTAAAACAAGTGACTCCTGGTTTTGTGTAATAGTAGAC[A/C]AAATGGTGCCCAATCCCTAACCATCCCTTACTCCCATATC |
C |
A |
C__11177864_10 |
|
|
solute
carrier family 25 (mitochondrial carrier, brain), member 14 |
SLC25A14 |
Intron |
X |
128212402 |
0.39 |
0.39 |
0.48 |
0.32 |
hCV11177864 |
AGCATCGCATTCTCTTAAATTAAGGTAGTCTATGCTATTC[T/C]AAGCTGCATCTGCTTTAAAATCTTTTCTAAAACACCACCT |
T |
T |
C____226270_10 |
|
|
cytosolic
ovarian carcinoma antigen 1 |
COVA1 |
Intron |
X |
128472951 |
0.13 |
0.03 |
0.33 |
0.25 |
hCV226270 |
TCTGGGAAGCTGATTTGTGACCAAATATTTCAACCTGACA[C/G]AATTAGGTTAGGAAGCAAAGTACCATCACATTAGACTGCA |
G |
G |
C___2250396_10 |
rs563929 |
|
|
|
|
X |
129379986 |
0.45 |
0.3 |
0.34 |
0.33 |
hCV2250396 |
GTAGAATAAATTGATGAGCCATTTGACTAAAAATTGGTGA[T/A]CAGTCTATGGCTGTGAGATCGACTTATTTTTTAAATGGGG |
A |
A |
C___2529962_1_ |
rs499030 |
IMS-JST009441 |
|
|
|
X |
129384090 |
0.47 |
0.11 |
0.36 |
0.33 |
hCV2529962 |
CAAGTGATGTCCCCCATGAGGTAGCAACCAAGCAGACACA[C/T]ACTGGGCCATTCATAACCACTGAATAACGCAGGGGATTGC |
A |
A |
C___2490588_10 |
|
|
|
|
|
X |
129644608 |
0.33 |
0.31 |
0.42 |
0.34 |
hCV2490588 |
TGAAAATGAAGGCCAATACTACCCAGGTAAGCAAATACCC[A/G]AAAGGCCAAAAAGACTGGGTAATCTGGTGTTCCCGTTAAT |
C |
C |
C___2490585_10 |
|
|
|
|
|
X |
129655450 |
0.34 |
0.35 |
0.45 |
0.35 |
hCV2490585 |
ACAACAAAGTCCATTGGCAGAGGTTCTCAAATTCACCAAT[G/A]CTCAAGTAAATTACAGTATGACAAAGTCTCAACCATTCCC |
C |
C |
C___2490580_10 |
|
|
|
|
|
X |
129669630 |
0.37 |
0.36 |
0.44 |
0.34 |
hCV2490580 |
TTATAATTTCTTAAAATCTAAACGGTGCCAACAGTGGGTG[T/C]AACTTTTGTAATTTCTTGAAATAGAAAGGTCTTCTAGAGT |
G |
G |
C___1264556_10 |
rs2748729 |
|
Mst3
and SOK1-related kinase |
MST4 |
|
X |
129859762 |
0.37 |
0.49 |
0.47 |
0.48 |
hCV1264556 |
ACTTATGCTTTTTGGTCACACGTAGAGTGTAACATAGCAC[T/C]TCAGAAAGGATTTGGTACCTGCTTGATTGATGTGATCTGA |
A |
A |
C__22272977_10 |
|
|
Mst3
and SOK1-related kinase|hypothetical protein LOC90167 |
MST4|LOC90167 |
Intron |
X |
129909406 |
0.3 |
0.49 |
0.11 |
0 |
hCV22272977 |
CGAACCAGGTTCCTGGATGGATCTTAGACAATTCTCACAT[G/A]CACTGTATTCCCTACTGCAGGAAAAGCTGCCTTTGCTATA |
C |
C |
C___8940771_10 |
rs1406867 |
|
hypothetical
protein LOC90167 |
LOC90167 |
Intron |
X |
129925817 |
|
|
0.09 |
0.08 |
hCV8940771 |
AACACACACACCCCTATAGAAACATAAATATACATAAAGC[A/G]TGGGGTTGGAGGCTTTGGACTGCATTGGCTACAAAGAAGG |
C |
C |
C___2957400_10 |
rs243472 |
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
|
X |
130458649 |
0.28 |
0.2 |
0.49 |
0.38 |
hCV2957400 |
AAGCTAGGAAACCATTCCTGGCTTCATTAATAATTAACAG[C/T]GGGTTCTTTTCCAATGAGGAATATTCACAAAGCAACTGCC |
A |
A |
C___2225634_10 |
rs243448 |
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130479543 |
0.07 |
0.16 |
0.1 |
0.07 |
hCV2225634 |
GGGTTTTATGTGGATGTACTAATCAATCAAAAGGCAGGAC[A/C]AAAGCAATGGATTCCTGGGACAAGAGGCACTAGGGATGTT |
T |
T |
C___8940681_10 |
rs1263062 |
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130490755 |
0.29 |
0.19 |
0.49 |
0.38 |
hCV8940681 |
GTTCTAATGTTCAAAGGAATTCCTACAATGGTAGGAGAGA[G/A]ATTTGAGGCCAGAAATAATGCCATTAAGCATTTATCCCAG |
T |
C |
C__11231673_10 |
|
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130540943 |
0.24 |
0.07 |
0.32 |
0.16 |
hCV11231673 |
AACTCTGATTTACAGTCACAGAGATTCTTGACATAGAAAA[A/G]GAGTGGGGTATAGAGAAAGAAGTGAGGAAGGCACACAGCA |
T |
T |
C__15976275_10 |
rs2315524 |
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130558305 |
0.48 |
0.48 |
0.33 |
0.21 |
hCV15976275 |
AGCCAAGCACTTGAATTCTGGAATTCAAAATGAAAAATAG[A/T]CCCATGAGAGGCCTAAAGAGAGGCAAACAGGAAGCACTTC |
T |
T |
C____348876_10 |
|
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130580023 |
0.42 |
0.37 |
0.48 |
0.31 |
hCV348876 |
CTCATTCAGAAAATCCTGTTCTCCTTTGGTATTGATGGCT[G/C]AAAACTCTGATTACATCTGCAGAGCAGTGTGAATAGTAGG |
C |
G |
C__11679919_10 |
rs1894563 |
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130592794 |
0.47 |
0.48 |
0.35 |
0.24 |
hCV11679919 |
CAGCCCTGTGAAGAGAAGAGGCAGTGGTTGGAAGCCTAAG[T/C]CACAGAAACAGAGTATAGTCCAAGAAAGGTTATAATGCTG |
A |
A |
C___2473887_10 |
|
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130600366 |
0.47 |
0.27 |
0.48 |
0.31 |
hCV2473887 |
GAAAGGTGGGCATTTACTCGCCCTGCCCCCTCCACTGAAC[C/T]CGAAGTGCTCATTCTCTCCCATGCCTGTGTCCTCTCTCTC |
A |
G |
C___2465152_10 |
|
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130632650 |
0.48 |
0.34 |
0.49 |
0.29 |
hCV2465152 |
TTTGGAGATTTGCAACTTGTCATGGGAAACATTCCCAGGG[T/A]TTCTTCTAGAGTTGTTGTGGACCTGATTTTGGGTGCTAAG |
T |
T |
C___8940650_10 |
rs1005580 |
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130647875 |
0.44 |
0.28 |
0.45 |
0.34 |
hCV8940650 |
AGTGTGGAGTGTGACATTTGGAAATGTAAAAAGAGGCTTT[C/T]GGGGAGTAGTTGGGGGTTTGAGTGGAATATCTCCCTTTTT |
A |
G |
C___2466602_10 |
|
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130682941 |
|
|
0.37 |
0.29 |
hCV2466602 |
TGTAAGTGGTATAATACTTAACAATGTTCACACATGAAAA[C/T]ACATAAGTGGTTTATTTAATTCATGATCAATTATTTGTTT |
G |
G |
C___2466592_10 |
|
|
heparan
sulfate 6-O-sulfotransferase 2 |
HS6ST2 |
Intron |
X |
130717313 |
0.48 |
0.22 |
0.35 |
0.32 |
hCV2466592 |
TTGGATTCGATCCTACAGTGTCTTACATAGTTCTTGGCAC[A/C]TGCATGTTTGCTCTAGGAACAACCTTCCTTATTATACCGA |
T |
T |
C___2483302_10 |
|
|
ubiquitin
specific protease 26 |
USP26 |
|
X |
130860764 |
|
|
0.14 |
0.06 |
hCV2483302 |
GCTGGGGATCCCACTCCCTCTGCATGCCCTTGCATCGAGC[G/A]CTGTCTGGGGCTTGCCTGCATCCTAACTGTGCCTCATCTG |
T |
T |
C__22271527_10 |
|
|
ubiquitin
specific protease 26 |
USP26 |
Silent
Mutation |
X |
130867280 |
0.49 |
0.14 |
0.36 |
0.28 |
hCV22271527 |
AGAGGAAAAGAATGCTCTCATCTAGCTCAGAGATGAATGA[G/A]GAATTCTTGAAAGAAAATAATTCTGTAGAATACAAGAAAT |
T |
T |
C__11231597_10 |
|
|
glypican
4 |
GPC4 |
Intron |
X |
131156581 |
0.41 |
0.24 |
0.45 |
0.33 |
hCV11231597 |
AAATAATGTAGAAATCTTTTTATTTTTATGCACATTACGT[A/C]CCGTTTTATAGTAGGAATTGATCATCTCTGCTACATTAGT |
G |
G |
C__16176910_10 |
rs2266797 |
IMS-JST020009 |
glypican
4 |
GPC4 |
Intron |
X |
131161750 |
0.39 |
0.4 |
0.46 |
0.33 |
hCV16176910 |
ACTAATTGTTAGTAAGCAACCAGGACTGTCGTGGACTGGC[T/C]AGGATACACGGGTCACTCTAGTTGGAGAGAAAACTTATAT |
A |
A |
C____341211_10 |
|
|
glypican
4 |
GPC4 |
Intron |
X |
131168004 |
|
|
0.46 |
0.33 |
hCV341211 |
TTCTAATAGCAAATTATTATGCTTTGGTTGATATTGTACC[C/T]AATTGCTATGGATTTTAGAATTTAAATGATGTCTGCCATC |
A |
A |
C___2490642_1_ |
rs2266803 |
IMS-JST020015 |
glypican
4 |
GPC4 |
Intron |
X |
131173551 |
0.42 |
0.25 |
0.44 |
0.33 |
hCV2490642 |
ATCCCCTGAGAGGGTTTTACATTGGAAAAAGTCTAAAACA[C/T]CCTCAAAGTAAGTGTGTCATAGATATGCATAGCATAATAT |
A |
A |
C___2490644_1_ |
rs2266805 |
IMS-JST020017 |
glypican
4 |
GPC4 |
Intron |
X |
131173853 |
0.41 |
0.25 |
0.44 |
0.34 |
hCV2490644 |
AAGCACTCTTCAGACTTAGCAGAATCTGCATTTTAATCAC[C/T]AACTGCAAATTTTCTGTAGTTCATATTAGCCATTAACCAG |
A |
A |
C__11231589_1_ |
rs2266806 |
IMS-JST020018 |
glypican
4 |
GPC4 |
Intron |
X |
131173895 |
0.2 |
0 |
0.34 |
0.23 |
hCV11231589 |
TAAGGCCCCTTGTTTCCTATCACTTCACAGAGGCAGGGCA[C/T]GAAGCACTCTTCAGACTTAGCAGAATCTGCATTTTAATCA |
A |
A |
C__16176944_10 |
rs2266807 |
|
glypican
4 |
GPC4 |
Intron |
X |
131192830 |
|
|
0.46 |
0.33 |
hCV16176944 |
TGCAGCCGTTTCATTCTTGGTTAGTTCTGCAGTAAAGAAG[G/T]CCAGGACACTTGCAGCGCACTTTCTGGAGCATTTGTATCT |
C |
C |
C__15950692_10 |
rs2073288 |
|
glypican
4 |
GPC4 |
UTR
5 |
X |
131254620 |
|
|
0.44 |
0.36 |
hCV15950692 |
CCGTAGCGCCGCTTCCCGTCCGGTCCCAAAGGTGGGAACG[T/C]GTCCGCCCCGGCCCGCACCATGGCACGGTTCGGCTTGCCC |
G |
A |
C__15872369_20 |
rs2267502 |
|
glypican
3 |
GPC3 |
Intron |
X |
131493144 |
|
|
0.06 |
0.06 |
hCV15872369 |
TCACAGAGTCTGACTCAGGCTCCTGTTCTCATTCAGGGTC[G/A]GTCATCCTTTCAGTCTCATCCCCTGGATCTCAACTCCTCC |
C |
C |
C__15872358_20 |
rs2267504 |
|
glypican
3 |
GPC3 |
Intron |
X |
131509716 |
|
|
0.07 |
0.06 |
hCV15872358 |
TTTACGCTTGTTTGACTCTATTCCTCTTCTACAAGTGCTC[T/G]CTTTGCTTCAACTGTCCCAAGACAAGCATGCCCAGATGTC |
C |
C |
C____346780_1_ |
rs2267516 |
IMS-JST020962 |
glypican
3 |
GPC3 |
Intron |
X |
131704720 |
0.32 |
0.36 |
0.28 |
0.27 |
hCV346780 |
ACATCCCACAGATAACTGTAATTGCATTTTATTGAAGGAA[G/C]AGAACTTGTAAATAGGGCAACAGCTGGACATGCTAAATTA |
C |
C |
C__15960382_10 |
rs2284126 |
|
glypican
3 |
GPC3 |
Intron |
X |
131766438 |
|
|
0.12 |
0.03 |
hCV15960382 |
TCCTGCTGTCATATTGCAGGCTTGAATTTGCCGATTTGCC[A/G]GGGCGGTGGCAGGGGGGCGGAGGGGGGACGGTATTTTTGG |
T |
T |
C___8940538_10 |
rs1264382 |
|
glypican
3 |
GPC3 |
Intron |
X |
131785786 |
|
|
0.25 |
0.3 |
hCV8940538 |
TAACTTTCCTCCTTGCAAGGGAACTCTATTGTATTTAATT[A/T]AAAAAGCATTGGCTGAGCAACTGGATAGCATGTCTAAAGG |
T |
T |
C__11231211_1_ |
rs2284128 |
IMS-JST033854 |
glypican
3 |
GPC3 |
Intron |
X |
131801979 |
0.05 |
0.06 |
0.11 |
0.1 |
hCV11231211 |
CCAAACTACAATGGGCCCCTTGAGACACAAAGATGAATCA[C/G]TCAAGGGTCCTTCCCTCAAGGAACTTAAATCTAGTGGAAA |
C |
C |
C__15872436_10 |
rs2267528 |
|
glypican
3 |
GPC3 |
Intron |
X |
131810106 |
0.06 |
0.02 |
0.09 |
0.12 |
hCV15872436 |
CCTTAAGCCAGAGAGTTTTAGGTATGAGATTGTGTGTTTT[T/G]TAAGAAAATATTACGGATAAAGACTAATGTTCTCAAGTCA |
#N/A |
#N/A |
C__15872435_10 |
rs2267530 |
|
glypican
3 |
GPC3 |
Intron |
X |
131821159 |
|
|
0.09 |
0.12 |
hCV15872435 |
TGAAACTTTGAACAATACAAAAAACTCTGTATTGTGTGCT[A/G]CTTGGAACAGTTAGAGAATTCTTTCAAATGTGGTCTGAAT |
#N/A |
#N/A |
C___2255756_1_ |
rs110133 |
IMS-JST035756 |
|
|
|
X |
131964059 |
0.4 |
0.42 |
0.33 |
0.43 |
hCV2255756 |
TGCATGCCTCTTCAGTGGGGGCCATTCAAGAAGCTTCAAG[C/T]GTGGATACATCTTTTGGCATATGGTAAACACTTTGTACTT |
A |
A |
C__15890062_10 |
rs2497052 |
|
|
|
|
X |
132083763 |
|
|
0.36 |
0.45 |
hCV15890062 |
CAGAATTCTATCCATTTTGACAGCAATTTCATGAGGAGAA[C/T]CTAATGTCAACAATTGAAAATATTAATGCCACCAAATGTG |
A |
A |
C___1243062_10 |
|
|
|
PHF6 |
|
X |
132227089 |
0.17 |
0.35 |
0.41 |
0.34 |
hCV1243062 |
GCTATGCCGCTTGCTATATTTAGTCTGTGAAGAACACCTC[A/G]TCCACACCTATGCTCAAATAAGTACCAAGACAGCCCCCAA |
T |
T |
C___2558486_10 |
|
|
hypoxanthine
phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) |
HPRT1 |
|
X |
132291168 |
0.13 |
0.18 |
0.16 |
0.11 |
hCV2558486 |
TTAAAAAGTAATGTAAACATGCATCCCCATTCAACCTCCA[C/T]CATCCTCACTGTAGAAAAATAGACTCAACCCATTAGTTTA |
A |
A |
C____588781_10 |
rs757308 |
|
hypothetical
protein MGC16121 |
MGC16121 |
|
X |
132379123 |
0.26 |
0.25 |
0.33 |
0.19 |
hCV588781 |
CTCCATAGTAACTCTGGTGTTGCAGAACACATGTGACACC[T/C]CAATTTAGGCGATCCTTGTTCTGGTAAGAGATGGAACCAT |
A |
A |
C__16250697_10 |
rs2503989 |
|
placenta-specific
1 |
PLAC1 |
Intron |
X |
132406754 |
0.31 |
0.23 |
0.45 |
0.31 |
hCV16250697 |
TAGTATGGCCTATGAGAGGACATGGAGGCCCCTAAAGAGG[G/C]AAGTATTGCCATCTTGAATTAAACTCTATCTCCTATCTCT |
G |
G |
C___1244098_10 |
|
|
placenta-specific
1 |
PLAC1 |
Intron |
X |
132419379 |
0.3 |
0.03 |
0.35 |
0.2 |
hCV1244098 |
AGTTCTAGAGGCCTCAGCTTTCCGGGAAAGCACAAACCAC[C/T]GCTCAGCTGGAGTCTATCTGGGTCTCCCCTCTCCAACTTG |
A |
A |
C___1244117_10 |
|
|
placenta-specific
1 |
PLAC1 |
Intron |
X |
132471326 |
0.44 |
0.06 |
0.11 |
0.16 |
hCV1244117 |
GTCCAGAGCCCAGCTGAGTTATTTCAGTCTTGAGCCTTAG[T/C]AGAGATTTTTATTGGGTAACAAATTTCAAATGCTCCAGTT |
A |
A |
C__15847442_10 |
rs2187790 |
|
|
|
|
X |
132709970 |
0.38 |
0.43 |
0.12 |
0.13 |
hCV15847442 |
AACTCCTTCAATGTCCCCCTCTTCACCTCACTTTCCCCCA[G/C]TTCTCTGCACATTCACCCATGCCTGTTCATCCACCCACAC |
G |
G |
C__25631441_10 |
|
|
motile
sperm domain containing 1|hypothetical protein dJ473B4 |
MOSPD1|DJ473B4 |
UTR
3 |
X |
132728520 |
0.45 |
0.26 |
0.5 |
0.38 |
hCV25631441 |
TTTATATCTACACCTGTTGTGTAAGAAACTTTAAAACATT[T/G]GTTATTTTCTCACCTTTTTTTCTAATTCACTTTGATTGCT |
A |
C |
C___2510765_10 |
|
|
motile
sperm domain containing 1|hypothetical protein dJ473B4 |
MOSPD1|DJ473B4 |
|
X |
132755162 |
0.39 |
0.49 |
0.32 |
0.22 |
hCV2510765 |
ACAGGACAGGAGGCAAGAGGGACTGCCTAAGGAGCGCAGA[C/G]AGAGATGGCCCTCTGTGAGAGCCTCCAGTCTGTCTCTTCA |
C |
C |
C___2823018_10 |
rs2208848 |
|
|
|
|
X |
132856790 |
0.44 |
0.2 |
0.26 |
0.11 |
hCV2823018 |
TCCTAAATCCATATATTGGAGAACATGAGGGTGCTTGGTT[C/T]CACTCCCTTCCTATCACTGCTTCCCCACTCCTGTCCAATC |
G |
G |
C___2823022_10 |
|
|
CAAX
box 1 |
CXX1 |
|
X |
132875306 |
0.44 |
0.26 |
0.26 |
0.11 |
hCV2823022 |
CTAGTATATTCTACCAGGATTCCCCTGAGAACCAAGGCCT[C/G]AGGGCACTGAACCATCCAAAGGCTACTTTGTTCCCCTATT |
C |
C |
C__16028568_10 |
rs2254804 |
IMS-JST022101 |
CAAX
box 1 |
CXX1 |
|
X |
132876144 |
|
|
0.32 |
0.46 |
hCV16028568 |
GTCAGGGGGCAGAATGAATTTGGTGACCATCTGTTAAGGA[C/T]CAGTAAGAGAGTGGGTATGAAGAGGACTGGGGACAAGTGA |
A |
A |
C__16028560_10 |
rs2247343 |
IMS-JST022100 |
DKFZP564B147
protein |
DKFZP564B147 |
|
X |
132891916 |
0.23 |
0.47 |
0.32 |
0.48 |
hCV16028560 |
GCATTGCCCTTCCGCGCCCTGTGACGCACCAGCGCACTAG[C/T]GACCACAAGTCTTTGTGGGCGGAGCTCGCGCAAGCGCCTG |
G |
G |
C___9713435_10 |
rs7042 |
|
zinc
finger protein 75 (D8C6) |
ZNF75 |
UTR
3 |
X |
133125614 |
0.13 |
0.14 |
0.07 |
0.03 |
hCV9713435 |
ACATCCTGAAGTGTCAGAGAAAAGTAAGGCATATGGCTCA[C/G]AGTGATGATGCCAGTCAGAGCCAGGCCAGATGGAAATTGT |
C |
C |
C___1249078_10 |
rs884165 |
|
|
|
|
X |
133164346 |
0.14 |
0.13 |
0.42 |
0.48 |
hCV1249078 |
CTGCTGTTGAGAACCTCAGCTGGGCTAACACAGCATGTAC[T/C]GTATTCTCAGAGACCTAAGACAACTACGCTTGCAGCCATG |
A |
A |
C___8377894_10 |
rs933383 |
|
hypothetical
protein FLJ23614 |
FLJ23614 |
|
X |
133179158 |
0.18 |
0.45 |
0.36 |
0.43 |
hCV8377894 |
CTTTAATTGCAGAGTGCACAATATGTGTAAATGTATGCAG[C/T]GACCCTGGAGGGAGGCTTGGGAAAGAAGTGGGGAGTATTG |
G |
A |
C___1249082_10 |
rs1419828 |
|
hypothetical
protein FLJ23614 |
FLJ23614 |
|
X |
133183220 |
0.43 |
0.44 |
0.32 |
0.41 |
hCV1249082 |
CACAACTGGTTTCGGGGCCAAGGTGGTCTGGAAGCCTGAC[T/G]GTGGCGTCTGGCCTGGGCTCCCGCGAGCGGAAAAGGTTCC |
A |
A |
C__16143993_10 |
rs2883328 |
|
hypothetical
protein FLJ23614 |
FLJ23614 |
Intron |
X |
133194271 |
0.45 |
0.49 |
0.33 |
0.42 |
hCV16143993 |
GCTTCCCATATTGGCCCTCAAGTCTAGCTGCTACCTTATG[C/T]ACAGCACCAAATTACAGAGGTTTGAGTACTTTTGCTTTGG |
A |
A |
C___1552668_10 |
|
|
hypothetical
protein LOC203522 |
LOC203522 |
|
X |
133356496 |
|
|
0.14 |
0.14 |
hCV1552668 |
GCTAGAAATTGTGTAGACTTCTCCACTGTGTTTCTTTGGC[C/A]TACATCAACACTAAACCATACAAAGCCCTTTCTACATCTT |
G |
G |
C__12059516_10 |
rs1912512 |
|
hypothetical
protein LOC203522 |
LOC203522 |
Intron |
X |
133376353 |
0.08 |
0.37 |
0.17 |
0.24 |
hCV12059516 |
AAGCTGTAATTTGGAACTCTGGCTGGCTTCTGTGTCTTAC[T/C]TCTCAATAGATTTCAAGTGGAGGAGGGAAATGAAGGAGTG |
A |
A |
C__12060107_10 |
rs1934147 |
|
hypothetical
protein LOC203522 |
LOC203522 |
Intron |
X |
133412118 |
|
|
0.32 |
0.37 |
hCV12060107 |
AGACAAATAATATTTTTTTTTCTTGTCTAGTGTCAAAATT[A/G]TAATAAAATCATGGAGAGAATAAAAACCATGAATAAGAAT |
T |
C |
C__12060100_10 |
rs2048366 |
|
hypothetical
protein LOC203522 |
LOC203522 |
|
X |
133423881 |
0.03 |
0.32 |
0.14 |
0.06 |
hCV12060100 |
TGAACAGGAGTTTCAGATGTTCTCCAAGTCTCAGCTCAGC[C/T]CTATCAGCCTCAACTATGCTCCATCAGTCAGGACTTTCTA |
G |
G |
C__16233134_10 |
rs2446132 |
|
|
|
|
X |
133616001 |
0.12 |
0.04 |
0 |
0.14 |
hCV16233134 |
TTTCCACACAGACACCCAGGGCTATGGCCCAAAGGTCAGA[T/C]AGAACCCCAAAGAAGAGCTCCTTCAGGACTGAGATCAACC |
A |
A |
C___1188025_10 |
|
|
solute
carrier family 9 (sodium/hydrogen exchanger), isoform 6 |
SLC9A6 |
Intron |
X |
133789406 |
|
|
0.05 |
0.11 |
hCV1188025 |
TTTTACCCCAACCAAAAACTAAACCTATGTTTTCATTTCC[T/C]ACTGTCTTTGCTAAACCTTTGTGCTTGCAATTTGTAAGTC |
C |
C |
C___1188024_1_ |
rs2291639 |
|
solute
carrier family 9 (sodium/hydrogen exchanger), isoform 6 |
SLC9A6 |
Intron |
X |
133801234 |
|
|
0.05 |
0.11 |
hCV1188024 |
TTTAGTAAAAAAGACTTCTATTTTGCTGAAAGAAGGAAAA[G/T]CCTATTCACAAACTATAAAGTTCCTCTTACCTGTTTAGTT |
A |
A |
C___1188009_10 |
|
|
|
|
|
X |
133863358 |
0.27 |
0.07 |
0.14 |
0.15 |
hCV1188009 |
GCACACTCTTTCCTAAATGCATTCCATTCCCTCAACTTTC[C/T]AAAGTTCCCATAAGGAGTCCTACTATGTGCTAGGAATCCA |
C |
C |
C__11231254_1_ |
rs2300917 |
IMS-JST056786 |
four
and a half LIM domains 1 |
FHL1 |
Intron |
X |
133962992 |
0.34 |
0.47 |
0.41 |
0.24 |
hCV11231254 |
CTCAAGTTATATCACAATGTAAAGAAATGCATGGAAAACA[C/T]TCAGCCTCACTGGTATGCAAAGATAAGCATATTTGAACGT |
C |
C |
C___8348285_1_ |
rs926905 |
|
four
and a half LIM domains 1 |
FHL1 |
Intron |
X |
133976918 |
|
|
0.45 |
0.45 |
hCV8348285 |
TTGGAAAGTTTATTGACTCTAGCCAGAAAAGGTCTAATTA[T/G]CCACTGGGCCCTTTCCTGGCAGGGAGGATGTAGGGAAGAC |
T |
G |
C__11678640_1_ |
rs2024704 |
|
four
and a half LIM domains 1 |
FHL1 |
Intron |
X |
133985311 |
|
|
0.5 |
0.44 |
hCV11678640 |
ATCCAAGGTGTTTGGAGAAGGTAAATCGAATGTGGAGCTG[A/G]AAGGAGGAACATTTGTAACTAAGAAAGTCCATAATGACCT |
A |
A |
C___2778587_1_ |
rs2300912 |
IMS-JST056780 |
four
and a half LIM domains 1 |
FHL1 |
Intron |
X |
133987342 |
0.36 |
0.48 |
0.49 |
0.44 |
hCV2778587 |
AGGTGCATTAGCATGTCTATTACACAAGTGTCCTATTCAT[C/T]GGCTAAGGCTTTGCTCCATCTGTTGAATGTTCTGAGGAAA |
T |
T |
C__16178202_10 |
rs2273219 |
|
hypothetical
protein FLJ12649 |
FLJ12649 |
|
X |
134015971 |
0.44 |
0.39 |
0.23 |
0.32 |
hCV16178202 |
TCACTGGCCTGATGAGACACAGGTGTCACAAAGATCACAG[A/G]AAAAGTAAAACATGAGTAAGTATAATTTTCAGGTTTAAAA |
A |
A |
C___8348264_1_ |
rs1055497 |
|
hypothetical
protein FLJ12649 |
FLJ12649 |
|
X |
134018641 |
|
|
0.21 |
0.31 |
hCV8348264 |
TTACTTAGTGCTGATGGGAGACGGCAGACCACAAGCATTT[T/G]CAGGAGATGATGACCATTTATAACACTCAGTGTATGATGA |
T |
T |
C__15875742_10 |
rs2281413 |
IMS-JST029957 |
hypothetical
protein FLJ12649 |
FLJ12649 |
|
X |
134037533 |
0.49 |
0.28 |
0.21 |
0.33 |
hCV15875742 |
CCCTTCAGGAAAACGCTGAGATCTAAAGGGCAGTTCTGGT[A/C]AAGTTGGTGCTCTGTGAAAAAAGTCTAACATGCGATATTT |
C |
C |
C____297337_10 |
|
|
G
protein-coupled receptor 112 |
GPR112 |
Intron |
X |
134195454 |
0.31 |
0.07 |
0.16 |
0.11 |
hCV297337 |
AATGTAAGAAGTCACAAAATATGTTGTTCTTCCTTCACAT[A/G]CCATTTTTATTGCCTCTGGTAGTAGGAATGGAATTTTTAG |
A |
A |
C___2495502_10 |
rs1203605 |
|
bombesin-like
receptor 3 |
BRS3 |
|
X |
134272102 |
0.42 |
0.38 |
0.12 |
0.16 |
hCV2495502 |
GTGTGTTTGGAGCTATGTAATAATTATTTCTGTTGTCACA[G/A]AGTTCTCTTTCATTACTTCTGGTCCTAAAACCTGATTGGT |
C |
C |
C___7564798_1_ |
rs1203606 |
IMS-JST007684 |
bombesin-like
receptor 3 |
BRS3 |
|
X |
134274161 |
0.42 |
0.21 |
0.1 |
0.08 |
hCV7564798 |
CAGTTCTTCAGAGAAAGTGAAGTGGATGAATTGAATCAAT[G/T]ACCTCCTTAATTTCATGAAGGGTGGAAGACAGATGTGGTT |
C |
C |
C___7564791_10 |
rs1203607 |
|
HIV
TAT specific factor 1|bombesin-like receptor 3 |
HTATSF1|BRS3 |
Intron |
X |
134279000 |
0.44 |
0.2 |
0.09 |
0.09 |
hCV7564791 |
ATTGTTAAACTAACTGAATGGACTAGCTCTAAAAAAGGCA[C/T]AGTTCTCTGCGTACCGATCAAGGGGTAAATGGAATCCTCT |
A |
A |
C___2495495_10 |
rs3027867 |
|
vestigial
like 1 (Drosophila)|TONDU |
VGLL1|TDU |
Intron |
X |
134337579 |
|
|
0.12 |
0.04 |
hCV2495495 |
ATAAAATATATATTTATAAGTGTTTCATATTAAAGGCAAA[G/T]CTTGCAACAGAGTAGGTTGATTTTTTGGTGGAAGTATAAT |
C |
C |
C____923574_10 |
rs616718 |
|
Rac/Cdc42
guanine nucleotide exchange factor (GEF) 6 |
ARHGEF6 |
Intron |
X |
134537824 |
0.24 |
0.49 |
0.24 |
0.17 |
hCV923574 |
TTCTCCACATCAACATCTCTAAACTTGGTCTCACACTGCT[T/C]ATTTCCACTAAGACATAAATAACTGATAGTGGCTGAAAAT |
A |
A |
C____923572_10 |
rs661426 |
|
Rac/Cdc42
guanine nucleotide exchange factor (GEF) 6 |
ARHGEF6 |
Intron |
X |
134543385 |
0.36 |
0.17 |
0.18 |
0.14 |
hCV923572 |
TGGATAGCAACAGGTGATACTTGGAAGGGCTGCTGCTGAA[A/G]GCGACTAGCAGTGGCTCTTTTGTTTCATGGCCCTCGTTTC |
C |
C |
C___1889168_10 |
rs1531570 |
|
|
|
|
X |
134596931 |
0.42 |
0.37 |
0.4 |
0.22 |
hCV1889168 |
ATCCACAATGGGAGTACAATTTAGAGCTCATTGGAAATAC[G/A]TGTTTGGAGGAACCATTACTGGGAATGCAGAAATTTGGTG |
A |
A |
C__15967197_20 |
rs2279166 |
|
RNA
binding motif protein, X-linked |
RBMX |
|
X |
134667311 |
|
|
0.08 |
0.02 |
hCV15967197 |
TGGACACTTTTACTTTCGCACATTTCTCATATTTTCCACT[A/G]AAACCATTGTTCCTTAATAACTAAAGAAAACGATAACGAG |
G |
G |
C___7453637_10 |
rs1190736 |
|
G
protein-coupled receptor 101 |
GPR101 |
Mis-sense
Mutation |
X |
134819071 |
0.42 |
0.07 |
0.34 |
0.27 |
hCV7453637 |
CACCCACCTGTTCGCCTTCGCCAGCGTCAACACCATTGTC[G/T]TGGTGTCAGTGGATCGCTACTTGTCCATCATCCACCCTCT |
A |
A |
C___1803544_10 |
|
|
|
|
|
X |
135112635 |
0 |
0.39 |
0.36 |
0.21 |
hCV1803544 |
AAAGCCTGGCCTGGAGGATTCAGTATGTGGATTAACCCCT[G/A]TTAGAACCTGTTTGTCTGTGTAAGAAAGTCAAATTCTCCC |
C |
C |
C___8913953_10 |
rs1154504 |
|
|
|
|
X |
135314657 |
0.3 |
0.09 |
0.16 |
0.24 |
hCV8913953 |
AATGGAATGAGTACAGTGATATGCTACCTACGCCACAGAA[C/T]CAGAGTCAGTGAAGTATCAAACAAGTCAGGAAAAGAGATT |
A |
A |
C__11775270_10 |
|
|
|
|
|
X |
136266386 |
0.08 |
0.05 |
0.09 |
0.13 |
hCV11775270 |
GTTCTGGGTTAAGGGTTACCATCAGTCCTTTTCAAAGTAT[G/A]CATATTTTCTCATTACAGGACCTCAACTCCCTGTCTTCAC |
C |
C |
C__11775268_10 |
|
|
|
|
|
X |
136273741 |
0.08 |
0.06 |
0.07 |
0.13 |
hCV11775268 |
AAGTGTGCTTTTAACATTAGAAAGGGCTGTTGCTATCAAC[G/A]GGATTCCAGAATGAGGGAGGGAACAGTTCAGGGAACATCT |
T |
T |
C__11775263_10 |
rs17388 |
|
|
|
|
X |
136278039 |
0.08 |
0.06 |
0.11 |
0.13 |
hCV11775263 |
ATCCCTTCCACTGCTCCTCAGTGTTTCTGCTTGTTATCTT[A/G]CTGGTCATCAGTCACCAACCCCATTCATTCACAAAGCCTC |
T |
T |
C__11678142_10 |
rs657 |
|
fibroblast
growth factor 13 |
FGF13 |
Intron |
X |
136451788 |
0.1 |
0.05 |
0.18 |
0.1 |
hCV11678142 |
GTTTGTCAGAACAGCCTTGGAGGTGTGCTGAATGAAACCT[A/C]ATTTAGACTAGTAGATGATCAGATGACAAAGAATACCAGA |
G |
G |
C___2468089_10 |
|
|
fibroblast
growth factor 13 |
FGF13 |
Intron |
X |
136460036 |
0.2 |
0.36 |
0.25 |
0.27 |
hCV2468089 |
CATCCCTGCTTCCATCCTTATGCCTCCCCACTTTGTGCTC[C/T]ACAGTTATCCTGTTCATAGTAAGTCAGATAATGTGACAAC |
G |
G |
C__15960501_10 |
rs2284159 |
|
fibroblast
growth factor 13 |
FGF13 |
Intron |
X |
136495037 |
0.24 |
0.18 |
0.24 |
0.14 |
hCV15960501 |
CTGGTGTTCACATGTGTTTCCTGAAAAGAAATAAAAAAAA[G/A]GTAGATAATTCATGTGCTGTGTCCTATGAACAGCAATATA |
#N/A |
#N/A |
C___2468094_10 |
|
|
fibroblast
growth factor 13 |
FGF13 |
|
X |
136533031 |
0.18 |
0.28 |
0.31 |
0.48 |
hCV2468094 |
CCAGAAAATTATGTATGCCTCGGACAAGGCTTCCTACTAA[T/C]AAGATTCACACTCACACACATACCCCTAACTCCTTTAAAA |
A |
A |
C___2458656_10 |
|
|
fibroblast
growth factor 13 |
FGF13 |
|
X |
136942124 |
0.38 |
0.43 |
0.28 |
0.11 |
hCV2458656 |
TGGAGTTGGTCAATCCATCGCTTCATCAGTGCTCTTAAAA[C/T]AATGAGTTATGGCATGCTTTGTGATCAGCACATAATGTTC |
G |
G |
C___2458659_1_ |
rs1029308 |
IMS-JST057438 |
fibroblast
growth factor 13 |
FGF13 |
|
X |
136943521 |
0.49 |
0.18 |
0.41 |
0.13 |
hCV2458659 |
TGACTTCTCAGACAAGCATTTCCCTACTCTTCTGCACCCA[C/T]CGTCAGTTCACTAGGCATCTGCATCTCCAGGGCAAACATG |
G |
G |
C___2222502_1_ |
rs374508 |
IMS-JST007411 |
|
|
|
X |
137106482 |
0.11 |
0.48 |
0.48 |
0.47 |
hCV2222502 |
GTACTCTGAGTTTGTATAAGGAAGCTGTTAGACATGCATA[A/G]TGCAGCCTGGCATGGCTTATCTGAAAAGGATTACTGAGGA |
C |
T |
C____596324_10 |
rs392959 |
|
coagulation
factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) |
F9 |
Intron |
X |
137327861 |
0.08 |
0.24 |
0.27 |
0.28 |
hCV596324 |
CCTTTGTTTCTCATATATTGAGTCTTACAGATCAAGCTCC[C/T]ATTTTTTTCTTCAGGGGTATTTTTCTAGTTCAAAGTGCCT |
T |
T |
C____596345_10 |
rs722504 |
|
MCF.2
cell line derived transforming sequence |
MCF2 |
|
X |
137361669 |
0.39 |
0.28 |
0.13 |
0.19 |
hCV596345 |
GCTTCTCTCCTCACTCTATATTAAGGCACATGTACTAGCT[C/T]CCAAATGGGCTGTGAAAGAGATCATTAGGTCTGGCAATTC |
C |
C |
C__15863327_10 |
rs2076499 |
|
MCF.2
cell line derived transforming sequence |
MCF2 |
Intron |
X |
137374038 |
|
|
0.09 |
0.16 |
hCV15863327 |
TATGCAAGACATGAGAGCCTTATAAAAATGGGTTAACTGT[A/C]TTTTGTTTATACAAAAATACCAAGTGGGTAGATTTCCAAA |
C |
C |
C__16177557_10 |
rs2272999 |
|
MCF.2
cell line derived transforming sequence |
MCF2 |
Intron |
X |
137375336 |
|
|
0.09 |
0.16 |
hCV16177557 |
ACTATTAAGAACTATCAGCCTCCAGTATAAGGCTGGACCT[G/C]AGAAAATGATGTTTATGGAATTTGATGAGTTATTGCTAAA |
G |
G |
C___2482183_10 |
|
|
MCF.2
cell line derived transforming sequence |
MCF2 |
Intron |
X |
137428455 |
0.32 |
0.42 |
0.11 |
0.19 |
hCV2482183 |
AGAATCAGCCCAATTCCAGAGACCCTTCAAGGTGAAACCA[A/T]TTTTTTACTAGCTAAGGTTCAAATTCTTTACTCTGGTCAA |
A |
A |
C__11231537_10 |
|
|
ATPase,
Class VI, type 11C|hypothetical protein FLJ34233 |
ATP11C|FLJ34233 |
Intron |
X |
137532983 |
|
|
0.17 |
0.28 |
hCV11231537 |
CCCCAGTGCAACTGCTGAATGAGATAGTCATGTTCTGGGA[A/G]GACACTGGCAGGACCAGAATAGCCTTTCTGCAGAATACTG |
G |
G |
C____299672_10 |
|
|
ATPase,
Class VI, type 11C|hypothetical protein FLJ34233 |
ATP11C|FLJ34233 |
Intron |
X |
137547614 |
0.03 |
0.27 |
0.33 |
0.38 |
hCV299672 |
TAACCACTGGTCAACATTTGCCATTTTAACGCTTGTTTTG[T/C]TCTCCTTAACAGAGCATTCCTTCCATCTGGTGGCAGTTGC |
T |
T |
C_____51558_10 |
|
|
ATPase,
Class VI, type 11C|hypothetical protein FLJ34233 |
ATP11C|FLJ34233 |
Intron |
X |
137588829 |
|
|
0.33 |
0.33 |
hCV51558 |
CCACTAGAGTGATAGAAGTACAAGGTATTCCGAAGTCACA[C/G]AGCAAGGAATTCAATCGTCTAAGGAAATAAGGAATAACCT |
G |
G |
C___1846971_10 |
rs927569 |
|
|
|
|
X |
138448849 |
0.23 |
0.5 |
0.23 |
0.39 |
hCV1846971 |
CTCTGTAAACTATATTAGAATAAAGACAGATTTGTATGAT[C/G]TGGTCATCCACCGCATAGAGTCTTTATGATAATTGCATGT |
C |
C |
C___2793719_10 |
|
|
cerebellar
degeneration-related protein 1, 34kDa |
CDR1 |
|
X |
138572799 |
0.17 |
0.43 |
0.1 |
0.25 |
hCV2793719 |
TTCTCATTAAATAAAAATTTCACTTAGACCTAAACATAGT[A/C]AACTGTATAAAAACCGTAAGCACTAGTGAAGTAGTAAAAT |
C |
C |
C___8813677_10 |
rs1565843 |
|
|
|
|
X |
138761154 |
0.41 |
0.14 |
0.22 |
0.39 |
hCV8813677 |
CTCCAATGAACATAACTGCAACTCACAAGGAGCCAATAAG[A/G]CTCTGCCTTTAAAAAGAGTCAAGAAGAGTGGATCCCAAAC |
G |
G |
C___2476455_10 |
|
|
leucine
zipper, down-regulated in cancer 1 |
LDOC1 |
|
X |
138960115 |
0.48 |
0.36 |
0.31 |
0.31 |
hCV2476455 |
CCTTCATGAACATCTGATCATCTACCTTGCATTTTTTTCT[C/G]TTGCCTAAAATGCCTGTTAGAATGTGTTCCTTTGTCTTCA |
G |
G |
C___8813834_10 |
rs1157573 |
|
|
|
|
X |
139552244 |
0.18 |
0.24 |
0.05 |
0.21 |
hCV8813834 |
GGGACCAGTGCACCAGGATTCACCATAGGTGGACAGAAAG[A/C]ATCCCTGTTCTTGCTCTGGTTTAGTCTGTTTTCATCTACT |
A |
A |
C__11758746_1_ |
|
|
|
|
|
X |
139954415 |
|
|
0.17 |
0.25 |
hCV11758746 |
TTGTACCAGGATGGAAAGGAAATAGGGATACTATTGTATA[T/G]CTTGGCCAAAAACTCTAGTACTTTCTGCTTGGTGCTTTCT |
T |
T |
C___8874501_10 |
rs1004353 |
|
melanoma
antigen, family E, 1, cancer/testis specific |
MAGEE1 |
|
X |
139979464 |
0.15 |
0.09 |
0.14 |
0.07 |
hCV8874501 |
ATGGACAAATGTGTGAGGAAATTAACTGGTGAAACATTTT[T/G]GGAGAAAGCCCTCAACATTATAAAAAATACAAAATATTCA |
T |
T |
C__25750565_10 |
rs3765272 |
|
melanoma
antigen, family E, 1, cancer/testis specific |
MAGEE1 |
Silent
Mutation |
X |
139984467 |
0.33 |
0.44 |
0.13 |
0.06 |
hCV25750565 |
ACTCTAGTACTTTCTTCTTGATGCTTTCTGAATGGGCTCT[C/T]GGACCCCACAGGAATTCATAATATGGAGGAGAACTGTGGG |
C |
C |
C___2220500_10 |
rs764198 |
|
|
|
|
X |
140041915 |
0.49 |
0.33 |
0.07 |
0.08 |
hCV2220500 |
AACCTGAAGGTCATCTCTTGAATCCTCTTCTTCCTCATCA[A/G]TGAGCACACGTCCAGTGGTTTCGCTTCTTCAAACTTCTGT |
A |
A |
C____326843_1_ |
rs3736714 |
|
|
|
|
X |
140266407 |
0.5 |
0.3 |
0.4 |
0.45 |
hCV326843 |
ACTTTGTGGCACCCATGGGTGTATTTTGAAGGATGAAAGA[G/A]AAGCAGTTTGGTGTGGTGATTTGGAGCCAGGTAGATTTCA |
G |
G |
C__11685419_10 |
rs1997686 |
|
|
|
|
X |
140856823 |
|
|
0.39 |
0.36 |
hCV11685419 |
GGACCAGATATAAAACCCTGACCCTTAGAGAAGTCACTAA[C/T]CTCAAACCTCTGTGTATGTCTTTTATAATATCTTCTGGCA |
T |
T |
C___8929837_10 |
rs926357 |
|
|
|
|
X |
140943035 |
0.02 |
0.43 |
0.33 |
0.15 |
hCV8929837 |
CTAAAAAGTTACAGGGTAAGATGTGTGGAGGAATAAAGAA[T/C]TAAGGTCATGAATTGAGTTACTCTATCACATTTTCTTTTT |
T |
T |
C___1089463_10 |
rs761694 |
|
|
|
|
X |
141376200 |
0.25 |
0.42 |
0.35 |
0.4 |
hCV1089463 |
TATATCTTCATGGCCTGTAACAGAATCATGGAATTGTAAG[T/C]GTTCAGTGTTAGAAGGGACTTGAGATTCCAATTAGTCAGC |
C |
C |
C___2027235_10 |
rs2891096 |
|
|
|
|
X |
142569689 |
0.18 |
0.43 |
0.39 |
0.46 |
hCV2027235 |
GGCAGTTACATAGATATATAAATTTAAAAAAAGAAATAAA[C/A]GTTCTAAGTACTTCTCCCGCCTTTTACTGGATAATCTTTT |
C |
C |
C___7454608_10 |
rs1749245 |
|
|
|
|
X |
142922620 |
0.34 |
0.27 |
0.1 |
0.22 |
hCV7454608 |
AAACAGCCACAGTTGCTTTTCCGATGAGCACTAGAGGAAA[T/C]CACTGCCATTGCTTCCACTGTCCCCTGCCCAGGCAAATGT |
T |
T |
C____803030_10 |
rs558665 |
|
|
|
|
X |
142929360 |
0.34 |
0.26 |
0.11 |
0.22 |
hCV803030 |
TGAAGAAAAGAAAATATAAACATAAATCACAAAATCTACT[A/G]GCAACATGAATGTACAAGTAATATTTGACAGAGGAGTAAT |
G |
G |
C___7454549_10 |
rs1458745 |
|
|
|
|
X |
142969401 |
0.45 |
0.49 |
0.12 |
0.03 |
hCV7454549 |
CTGAGTCAATGAATACTGCACCCTCTTAAGATGATAAGTT[T/C]AGTATCTGTACTGTGAAAAACCGGGGCGTGTAAAGCAAGA |
T |
T |
C___7454548_10 |
rs1458744 |
|
|
|
|
X |
142969547 |
0.45 |
0.39 |
0.12 |
0.03 |
hCV7454548 |
CCAGGAATTGTGCTGTGTGCTTTTTCATACGTTTTACCTG[C/T]TGATTTCCAGAGAAAATGTATGAATCAAAAATTACTCGTT |
C |
C |
C___7454545_10 |
rs1380021 |
|
|
|
|
X |
142971387 |
0.45 |
0.49 |
0.12 |
0.03 |
hCV7454545 |
TTATTTATGAAACCCTGCAAAGTGGGGTCTATAATGAAAT[C/T]GCGGCTAGACCCTTAGCTGTAACATCTATCATGGCGGGCG |
T |
T |
C___7454535_10 |
rs1458738 |
|
|
|
|
X |
142984957 |
0.46 |
0.4 |
0.09 |
0.13 |
hCV7454535 |
ACGGCTTTGGGGTTTTTAATGCAGTTTCCGGAAACCACCA[A/C]CGAGATAAAAACCAACATTTTGCAGTACAGTATCTTGCCA |
C |
C |
C__12123886_10 |
rs2057211 |
|
chromosome
X open reading frame 1|slit and trk like gene 2|KIAA1854 protein |
CXorf1|SLITRK2|KIAA1854 |
|
X |
143582408 |
0.23 |
0.11 |
0.07 |
0.08 |
hCV12123886 |
GCCGATATGTTCTCGTGTAAGAGTAGAAAAGAGGAAAAAA[G/C]GTATCCATTCAAAACGTTTCTCTGCTTTCCAGAGGTTTCT |
G |
G |
C___8338970_10 |
rs959605 |
|
|
|
|
X |
144365690 |
0.2 |
0.46 |
0.25 |
0.32 |
hCV8338970 |
TCGACCTTGAATTCATTTTACCCTTATTCTAATTTTAGGA[T/C]TAGCCATCATGCCATCCAAATATTATCTTACTTGCATTTA |
C |
C |
C___8338948_10 |
rs1159881 |
|
|
|
|
X |
144407095 |
0.21 |
0.06 |
0.33 |
0.31 |
hCV8338948 |
CTTTTGCAGAATGCAGGGAAATCTAATTGGTGCCATCCAT[A/G]TAGGTCAACTTCTGGAGCTAAGAACAGGGTGAAGAATGGT |
G |
G |
C___1742017_10 |
rs1336833 |
|
|
|
|
X |
144606157 |
0.27 |
0.14 |
0.18 |
0.13 |
hCV1742017 |
TCCCCACTATAATTGGGAGAGTTTAGAGTATGATCGTTTA[T/C]TGCTGTGGTAGTTAATTATCACTTAGAGAATGATAGTTAA |
C |
C |
C__15951830_10 |
rs2225832 |
|
|
|
|
X |
144629576 |
|
|
0.33 |
0.3 |
hCV15951830 |
AATGAAGTAGAGGTTTGCACTTCAGAGACATCCTCTGAGC[C/G]ACTGACATTGAAGCTGAGAATACCTGGGGTAAGGACTCTA |
G |
G |
C___1742002_10 |
|
|
|
|
|
X |
144634750 |
|
|
0.26 |
0.14 |
hCV1742002 |
CACTAACACATAGAATTTTAGGACACTTCCTAATAATGTG[C/T]AATAGATTAAATAAAATGATCAATACAGTGATTTTGGAAT |
C |
C |
C___2479575_10 |
|
|
|
|
|
X |
144702187 |
0.39 |
0.19 |
0.19 |
0.11 |
hCV2479575 |
TTCCACAGTTTTATATTTAGGTGAAATCCAAACAAAGCAT[A/G]GCAGGTTGCAAGTCTAGGTAACAATAACCATAGGTTTGAA |
G |
G |
C__12123984_10 |
rs1992835 |
|
|
|
|
X |
144977435 |
0.29 |
0.47 |
0.26 |
0.14 |
hCV12123984 |
GCCTCCTTTCAGGTAAACCCTATCAAATTATAGTCAAGTG[C/T]TGGCAAATATGGGTTGTGTAATTTGAGTTTGTTTCCCATC |
G |
G |
C__11881826_10 |
|
|
|
|
|
X |
144997010 |
0.46 |
0.47 |
0.28 |
0.16 |
hCV11881826 |
ATGACCACAAAGGGGAGTCAATTTGAGGACCAAAGATGAT[A/T]TGGTGAATGTAAATATTTAGAGTCCTGTATTTGTGGATGA |
A |
A |
C____342248_10 |
|
|
|
|
|
X |
145989770 |
0.38 |
0.01 |
0.26 |
0.16 |
hCV342248 |
CTGCTGAGTCCCAGTCTATCCAAGCAGGCCCATGGGGAAG[C/T]AGTACCATTATCTCAGCAGCAGCAGTGAACACTTTAGTAG |
A |
A |
C____327480_10 |
|
|
|
|
|
X |
145990633 |
0.42 |
0.13 |
0.26 |
0.18 |
hCV327480 |
CACAGAAATACACACACACACACGTGCATACATATCCAAG[G/A]GTTTAAATCGATAAACGTGCTTATTAGAGTAATTCCATCA |
T |
T |
C___2191016_10 |
|
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146294991 |
0.13 |
0.1 |
0.08 |
0.02 |
hCV2191016 |
AAAATACACAGGTATGTTTGAAAAACAGCATCCCATAAAG[C/T]AAGCAATCCATAATCAAAATCACATTCTAGCTATAGTGCT |
G |
G |
C___2191029_10 |
|
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146396855 |
0.47 |
0.2 |
0.14 |
0.11 |
hCV2191029 |
AGTTCCCTGGGCAGGTTGGCTGAGCCATACCATGACAGGA[T/A]GAATGTCACCAGGACCATATCCAATGTGTGTGTCTCAGGG |
A |
A |
C___2191064_10 |
rs241122 |
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146463463 |
0.44 |
0.38 |
0.17 |
0.22 |
hCV2191064 |
AAGAAAATACTGGATTTTACAGGTATCGAGTGAATCTTTC[A/C]AACAGTCTGTAAGATAATATTTTCAGAGTTTAAAAAAATC |
G |
G |
C__11691435_10 |
rs1858885 |
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146512152 |
0.1 |
0 |
0.16 |
0.05 |
hCV11691435 |
TTAGGTGTGCTGTAAGAGTCAAATGCCACCCTATGGCTTG[G/A]CAACTAGACTAGGCTGATGTCTCTTCTTGACTCAAACTGG |
C |
C |
C____328678_10 |
|
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146573033 |
0.22 |
0.21 |
0.07 |
0.11 |
hCV328678 |
ATGTTACATTGGGCACCTTGCTGGGACAGAGACCTGGGTA[T/C]GAAGTGAGTCAATTCTGTTCCTTGTCCAACAGTGATGCAG |
G |
G |
C__11691462_10 |
|
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146590923 |
|
|
0.07 |
0.1 |
hCV11691462 |
GACTTAAGTGGATATGACAACAGAGATAAGGGAGAGTGGG[A/G]ATGAGAAGGGTGGAGGAGGGGTGGGTGACATGCTTCATTA |
T |
T |
C____328532_10 |
|
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146753792 |
|
|
0.19 |
0.16 |
hCV328532 |
TTTAAAACACCTTGTCATAAATGCTTTGAATGTCAAGCAC[G/A]TTACGAAAGAAGGCAAAAAAAAAAAAAGAAAGAAAACAAT |
T |
T |
C___2645844_10 |
|
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146758066 |
0.29 |
0.12 |
0.09 |
0.08 |
hCV2645844 |
TGTTATTGCTATCTTTTTGGTGGACCTGAATCCAAATCAT[C/T]GCCTCAACTAGTTTCTATTCATGAAATTTACTAAACTATC |
A |
A |
C___2298487_10 |
rs758439 |
|
fragile
X mental retardation 2 |
FMR2 |
Intron |
X |
146770448 |
0.3 |
0.11 |
0.14 |
0.08 |
hCV2298487 |
TTCTGCTGCCACTGTTTCTGGCCTCAGAGAAGTTCAGCTC[C/T]GTCCTGAGGGCCACAGAGCCCAGAGAGCCAAAAAGCCAGG |
G |
G |
C__11691510_10 |
rs1858955 |
|
|
|
|
X |
146913765 |
|
|
0.16 |
0.32 |
hCV11691510 |
TGGCAGGGCTGAGATTGGGCCTGATTGCCCAGAAACACAT[T/C]AGTTATTTAATGAAGCAGGTAGAATGAACTCTTCGGCATC |
G |
G |
C___2183874_10 |
rs764908 |
|
|
|
|
X |
147082921 |
0.42 |
0.2 |
0.14 |
0.18 |
hCV2183874 |
AGTGTCCCACAACCAATGAGCTATCTAAATTCATAGGCTC[T/C]AATGTCACACTCCTAAAATCTTGGTGGAAAGTTAAACTGG |
G |
G |
C___8937135_10 |
rs8965 |
|
iduronate
2-sulfatase (Hunter syndrome) |
IDS |
|
X |
147267098 |
|
|
0.19 |
0.08 |
hCV8937135 |
AAATTAGAAATGCAGCACAAATACATGAATATTTTACCAC[G/A]AAATTGCCATATAATATCTTGTCTTTTTTGGGGGTGTGAA |
T |
T |
C__11882354_10 |
rs550402 |
|
family
with sequence similarity 11, member A |
FAM11A |
|
X |
147421111 |
0.37 |
0.32 |
0.1 |
0.06 |
hCV11882354 |
TTTCTGGCTTTTTTTTCCCCATGAGAGCACCAGTAGCATA[A/C]AGGGTTGGGCTTCCAGAATCAGTCCAGGTAATCCACCTCT |
G |
G |
C__11882288_10 |
|
|
melanoma
antigen, family A, 11 |
MAGEA11 |
|
X |
147480189 |
0.23 |
0.09 |
0.37 |
0.33 |
hCV11882288 |
TTGACAGACGTAATTCCTTAACCAGCCAAGATGACTGTCA[A/C]GCTCAGGCATCTGTTGGTTTTTGATTGTTTGGTTTGGTTT |
A |
A |
C___2608845_20 |
rs2071176 |
IMS-JST006506 |
|
|
|
X |
147595837 |
0.1 |
0.18 |
0.3 |
0.26 |
hCV2608845 |
AGCCGGGAAGAGGAGGGGCCAACCACCTAGACACACCCCG[A/C]TCACCTGGCGTCCTTGTTCCAATGGGAAGGTGGCTGAGTT |
A |
A |
C___8361236_10 |
rs1576099 |
|
|
|
|
X |
148089172 |
0.19 |
0.36 |
0.18 |
0.19 |
hCV8361236 |
TAGGCACATGTCCTTCCTCACAAGTGCTTTCTGAATGTGC[A/G]TGTAGAACGAAACCTCTTTGGCCGTAGTTGCTTCTTCCAT |
A |
A |
C___1089522_1_ |
rs611711 |
IMS-JST020039 |
chromosome
X open reading frame 6 |
CXorf6 |
Intron |
X |
148256665 |
0.35 |
0.42 |
0.19 |
0.13 |
hCV1089522 |
AAAACATCGCTAACAGAGATTTGCTTCAGGCATTCAGCTT[A/G]ACTGGTTCTCTTGTTCTTTCCTAGAAAACAAACAAACAAA |
A |
A |
C___1089530_20 |
rs593088 |
IMS-JST020051 |
chromosome
X open reading frame 6 |
CXorf6 |
Intron |
X |
148269384 |
0.21 |
0.47 |
0.31 |
0.44 |
hCV1089530 |
GGCCTGGCAGTAAGAAGAGATATTGCTACTGCATTCACAC[A/G]GTCCCAATCAGAAGTCTTAGAGATTATCTGTAGAGAGAGC |
G |
G |
C___8897572_1_ |
rs1569671 |
|
chromosome
X open reading frame 6 |
CXorf6 |
Intron |
X |
148272699 |
|
|
0.13 |
0.23 |
hCV8897572 |
ATGCATCCTTATTTGTAAGAAAGCAACAGAGGCCCAACAC[A/G]AAGACACAGGGCCTTGAGAATGATATCAGTAGTGATTACT |
A |
A |
C___3268106_1_ |
rs731426 |
IMS-JST020056 |
chromosome
X open reading frame 6 |
CXorf6 |
Intron |
X |
148285567 |
0.34 |
0.15 |
0.18 |
0.33 |
hCV3268106 |
TATGCTTTCTATCTTAAGGATAAGCTTTAGCTTAGGCAGT[T/C]GTGAGCACCAGGCAATTGCAGAGGCAGTGAACTCACCATC |
C |
C |
C___8897581_1_ |
rs1033495 |
IMS-JST033336 |
chromosome
X open reading frame 6 |
CXorf6 |
Intron |
X |
148299018 |
0.05 |
0.1 |
0.16 |
0.1 |
hCV8897581 |
ACAGAAACTGGTGGTAGAATTAGACTGACTACTTTGGATA[A/G]CAAAGCCAAGGCTGGCTTGACTGGCTGATAGCTAGACTAT |
G |
G |
C___3268111_1_ |
rs2266837 |
|
chromosome
X open reading frame 6 |
CXorf6 |
Intron |
X |
148300663 |
|
|
0.05 |
0.08 |
hCV3268111 |
TGCTGAGCTTCTGGTTAGTCTAGCTTCCTCCAGGTGTGCA[T/A]CACAGGGGTCCTGCTAGGGAGCCTTCCCAGTTGAGATTAA |
T |
T |
C___2252096_1_ |
rs109389 |
IMS-JST020073 |
chromosome
X open reading frame 6 |
CXorf6 |
Intron |
X |
148315414 |
0.36 |
0.14 |
0.37 |
0.19 |
hCV2252096 |
TCCTTTTGCCTGCTTAAGTGGTTGAATTGGTAATGAGATC[A/G]TTCTTCCCATGCAGTGGTGAGAAAGCAGCACTCAGGTGAT |
A |
A |
C___2252109_10 |
rs498608 |
|
chromosome
X open reading frame 6 |
CXorf6 |
|
X |
148330553 |
0.4 |
0.33 |
0.48 |
0.35 |
hCV2252109 |
TTAAATACAGAGGTACTTTTCAAGTACAAATCCAGCAATT[T/G]GAGGTGGAAGAAAACAGCCAGAGACCAAGTTTGTATTTGG |
G |
G |
C___2486079_10 |
rs571459 |
|
myotubular
myopathy 1 |
MTM1 |
|
X |
148374499 |
0.48 |
0.08 |
0.34 |
0.19 |
hCV2486079 |
GGGGAGATCAGAGCATAGAGGCCAAGGGAGAAGTAGCAGG[A/C]AACAGGCCATTTCCTCGCTCGGGCCTGCTTCTTATCTAGG |
A |
A |
C__11762987_10 |
rs2138413 |
|
myotubular
myopathy 1 |
MTM1 |
Intron |
X |
148401207 |
0.44 |
0.19 |
0.3 |
0.11 |
hCV11762987 |
AATTCGTAGTGCTCTAATTGCCATCTAAAAAAACTTAATG[T/C]TTATTAATTGTGCAACAGGCCTCAAATTTCCATACTCCTT |
G |
G |
C___1537673_1_ |
rs2266843 |
IMS-JST020074 |
myotubular
myopathy 1 |
MTM1 |
Intron |
X |
148410651 |
0.41 |
0.05 |
0.34 |
0.17 |
hCV1537673 |
GGTCGGCCTCACTCTAAGGACGAACACGCTGGAGACGGGG[C/T]GTGGGCCAGAATGCAGGGGCAGACCAGGCAAGGAGGGCTA |
G |
G |
C___2200932_10 |
|
|
myotubular
myopathy 1 |
MTM1 |
Intron |
X |
148466971 |
0.48 |
0.07 |
0.33 |
0.2 |
hCV2200932 |
AATGGTAGTGATCTATTTTTAGAAATTAGCTTTGTTTACT[C/T]ACAGATGCAAATTTATGTCCAAAACTTATCCATTCTTTTT |
A |
A |
C____740558_10 |
rs222375 |
|
myotubularin
related protein 1 |
MTMR1 |
|
X |
148494627 |
0.13 |
0.25 |
0.03 |
0.06 |
hCV740558 |
GTGTGGACTCTGCTGAGAGCACTCCCAAGGGACAGAAATG[A/T]CTGGGAGGGCAAAAAGAGAGACAGTGAGTTCAGACCACCT |
T |
T |
C__11762963_1_ |
rs2293737 |
|
myotubularin
related protein 1 |
MTMR1 |
|
X |
148512450 |
|
|
0.25 |
0.11 |
hCV11762963 |
CATTTTCTCATTTTTCTTCAGAATGTTTAGAGAAGAGATA[C/T]AGCTACTGTGTGTGTGTGGGTGAGGGAAGGAGAACAGAGA |
G |
G |
C____740548_1_ |
rs222353 |
IMS-JST046963 |
myotubularin
related protein 1 |
MTMR1 |
|
X |
148525215 |
0.38 |
0.16 |
0.26 |
0.1 |
hCV740548 |
CTTTATTGCCTGAACTAGTGACTAACTGTATAGCATCTCA[C/T]GAAGTGAGAAAGCTATTTTAATCAATATCAGAGTTTTAAA |
A |
A |
C___1537644_10 |
rs556309 |
|
myotubularin
related protein 1 |
MTMR1 |
|
X |
148528484 |
0.39 |
0.37 |
0.3 |
0.16 |
hCV1537644 |
AGGGCAGAGCTAGAAGAACGCCCAGAGAAGGAACAAAGAG[G/T]CCAGAGGACTGCCAGGATAGAATGAAGTCCTAGAACCCAA |
A |
A |
C___2200951_1_ |
rs2242556 |
IMS-JST014832 |
CD99
antigen-like 2|myotubularin related protein 1 |
CD99L2|MTMR1 |
|
X |
148568085 |
0.48 |
0.33 |
0.24 |
0.1 |
hCV2200951 |
ACCACTGACTGGAAAGAAGTGCTTGATGGGCCCCTGTGTT[T/C]AGCATCTCAAATAATGCACCTGAAGTCAGAAAGGAGGACA |
A |
A |
C___2200952_10 |
rs697495 |
|
CD99
antigen-like 2|myotubularin related protein 1 |
CD99L2|MTMR1 |
|
X |
148573809 |
|
|
0.28 |
0.17 |
hCV2200952 |
TAATTACAGATGATTGAAATACAGTGCAACAGATGAGACA[G/A]ATACAATACTGTACCAGTTTTTAAAAACCTGAACCATAAC |
T |
T |
C___8965861_10 |
rs9866 |
|
CD99
antigen-like 2|myotubularin related protein 1 |
CD99L2|MTMR1 |
UTR
3 |
X |
148576571 |
0.23 |
0.14 |
0.22 |
0.1 |
hCV8965861 |
ATAGGCTGTCCACTGAGCGGGATTGTCTGCTGAGTGGGAT[T/G]AGCCAACTCCAGTTTCTTAAGGAAACCACTGGAATCTGCA |
A |
A |
C__15828574_10 |
rs2142003 |
|
CD99
antigen-like 2 |
CD99L2 |
Intron |
X |
148601587 |
|
|
0.09 |
0.03 |
hCV15828574 |
GCTGTTACACCCGGTTATAAGTGTGACAAGTTATGGGTGT[A/G]TCTGGTTGTAACTCTGATACACTCCCCACAGTCTTGGCTG |
C |
C |
C_____37170_10 |
|
|
CD99
antigen-like 2 |
CD99L2 |
Intron |
X |
148605097 |
0.34 |
0.34 |
0.1 |
0.03 |
hCV37170 |
CAGATACATCGCTGTTTCTCTCCCAGGTGCTTGCTGTATA[C/T]AGCACTGTCTCTGTCTTTTCCCTCTATTAACTTCAATAGT |
A |
A |
C___2601479_10 |
|
|
CD99
antigen-like 2 |
CD99L2 |
|
X |
148708606 |
0.17 |
0.48 |
0.14 |
0.07 |
hCV2601479 |
GGCAGCCGGTGCCGCATAATGGCAGGGACAGGCTCACGCT[G/A]CCACTCCGGAGAGCAGTAGCGCTTCCTCTTTGTCTTCGAG |
C |
C |
C___3141712_10 |
rs2128990 |
|
|
|
|
X |
148744303 |
0.24 |
0.3 |
0.11 |
0.34 |
hCV3141712 |
ACAATTTAATGGTTTGTAGTGTATTAACGGAGCTGTGCAA[C/T]CATCACCAGCCAATTTTAGATATTTTTGTCACTCCCCAAA |
A |
A |
C____955551_10 |
|
|
high-mobility
group box 3 |
HMGB3 |
|
X |
148789336 |
0.12 |
0.22 |
0.23 |
0.2 |
hCV955551 |
TCCCTGCTCCTCCCCATCCCCCCAGCCACCCACCTACCAA[C/T]GGAGGCTCCTCACAGCCAGATTTTCTCCTTAACACCTGCC |
G |
G |
C____955554_10 |
rs237377 |
|
high-mobility
group box 3 |
HMGB3 |
Intron |
X |
148796497 |
0.32 |
0.2 |
0.26 |
0.27 |
hCV955554 |
GTTAGTGGGTGTTCAAGTGTCCTTCAAGTCACATTAGTAG[G/C]ACTATCAAATCCTCTGTTAACATTTTTTTTTCCTTAAAGA |
G |
G |
C___1954191_10 |
|
|
|
|
|
X |
148827637 |
|
|
0.15 |
0.32 |
hCV1954191 |
AAGCAGGTAGGTGTAACAGGTTTAAAGATGTGTAGTCTTA[C/T]AACTGTGTAGACTTTTACTTTGCAATTATAGGTTTTACAT |
G |
G |
C___3141746_10 |
|
|
|
|
|
X |
148832604 |
0.33 |
0.28 |
0.19 |
0.19 |
hCV3141746 |
GGCACCACTGTTGATGTCATCTATGATGTCATGAGGGTGG[T/C]GGCCATTAACATTACAGCCCACAAACTGGGCAGTCCCCAG |
T |
T |
C___2607891_10 |
rs1202874 |
|
G
protein-coupled receptor 50 |
GPR50 |
Intron |
X |
148988696 |
0.12 |
0.03 |
0.26 |
0.38 |
hCV2607891 |
ACCACTTATTCTTCTCTGTCTTTCCCCTTTCTCCCTCCCT[C/T]GATATGTTTTTCAGGCAACATCTTCGTGGTCAGTCTCTCT |
C |
C |
C__25640096_10 |
|
|
transmembrane
gamma-carboxyglutamic acid protein 3 |
TMG3 |
Intron |
X |
149486337 |
0.11 |
0.33 |
0.14 |
0.11 |
hCV25640096 |
GAACAGGCCCTGGTAATGCAGACCAATCAGAAGCAAGGAA[A/G]GACACCCAGCCTAAGGCATAGCCACTAGGGCCATCACGGA |
G |
G |
C__11881904_10 |
rs3761541 |
|
transmembrane
gamma-carboxyglutamic acid protein 3 |
TMG3 |
|
X |
149491264 |
0.41 |
0.44 |
0.18 |
0.33 |
hCV11881904 |
TCACAGGGATGTTGGATATTGCAGCCTTTCACTCTACTCC[G/T]TTATTTATCCTGTGAATAACATAGTTTGTGAACTAGACTG |
G |
G |
C___8898458_10 |
rs1554914 |
|
fetal
and adult testis expressed transcript protein|transmembrane
gamma-carboxyglutamic acid protein 3 |
FATE|TMG3 |
|
X |
149496270 |
0.2 |
0.21 |
0.26 |
0.26 |
hCV8898458 |
GGTCAGAGTAGAATAGGGGCTGGAGGATGTTTTCTGAAAT[T/G]CTCTGGAGCCACCTCCTCCTTGGGACTTCCTCTTGGTCTA |
G |
G |
C__25619411_10 |
|
|
fetal
and adult testis expressed transcript protein |
FATE |
Intron |
X |
149507470 |
0.18 |
0.05 |
0.3 |
0.21 |
hCV25619411 |
CACTCATGTGGGGTTGGGCAGGCTACTTTACTGACCATTC[C/T]TTTCTTCAGGGGTCCCAGCTGCCAAAGCCCAGAATGCTGA |
T |
T |
C___2607772_10 |
|
|
fetal
and adult testis expressed transcript protein |
FATE |
|
X |
149518628 |
0.29 |
0.19 |
0.4 |
0.38 |
hCV2607772 |
GAGAAGTTAGAATGCCAAGCCACCCTGGAAGCCAGCAGTT[A/G]AGGGTCTGAAGGCCCAGTCAGTCACAAATGTCTATCTGTC |
G |
G |
C___2607783_10 |
rs741726 |
|
|
|
|
X |
149538821 |
0.28 |
0.26 |
0.22 |
0.16 |
hCV2607783 |
TTTCCCACTTATTTTAAGAAAGGAAGTTCGCAGGCCGTTT[G/T]CAGCCCTCCTGGGGAGTCAGAGGATAGATTCGTCTTACCT |
T |
T |
C___2617616_1_ |
rs2269417 |
IMS-JST023573 |
gamma-aminobutyric
acid (GABA) A receptor, epsilon |
GABRE |
Intron |
X |
149742524 |
0.44 |
0.34 |
0.47 |
0.37 |
hCV2617616 |
AGGTGGTCAAAACCGGCACTAGCCTGCTCCCCAAAGTTTT[C/G]GTGGCTCCCTGTTTCACATGAGCTATACAGACTATCTGCA |
C |
C |
C___2617618_10 |
rs763539 |
|
gamma-aminobutyric
acid (GABA) A receptor, epsilon |
GABRE |
Intron |
X |
149743584 |
0.42 |
0.38 |
0.48 |
0.31 |
hCV2617618 |
CAAAAGTCCTCTTGCCGTGGGATCTTGACTGCAATTTAAG[G/A]CACTTCTAATTAGTTATACCCAGGCCCTGCAAAATTGCTG |
G |
G |
C___2617621_1_ |
rs2256756 |
IMS-JST035099 |
gamma-aminobutyric
acid (GABA) A receptor, epsilon |
GABRE |
Intron |
X |
149748953 |
0.42 |
0.38 |
0.35 |
0.33 |
hCV2617621 |
ATGTCAGAACTAGAAGGGAACTCAGAGGTTACCAAGCCTA[A/G]TGATCCCAAATGAGAAGTCAGTCATGCCCTGCTTGATTAC |
A |
A |
C__11689167_1_ |
rs1894367 |
IMS-JST020092 |
gamma-aminobutyric
acid (GABA) A receptor, epsilon |
GABRE |
Intron |
X |
149749875 |
0.42 |
0.38 |
0.39 |
0.34 |
hCV11689167 |
TCTTTAAAGGTACTGTTAGCTCTGACGTTATAGATTCTGA[A/G]GATTTTCATTAGCACATGTTTCAGGTTTGTGTGTCACCAC |
G |
G |
C___2617625_1_ |
rs2266854 |
IMS-JST020094 |
gamma-aminobutyric
acid (GABA) A receptor, epsilon |
GABRE |
Intron |
X |
149751835 |
0.42 |
0.45 |
0.47 |
0.38 |
hCV2617625 |
GGAGGCGGGCACAGCCCTCGGGGAAGAAATCAAGAAAATC[T/C]CTGATTGCCTTTGCTGGCCAGGACAAAAGATTGTAAAAGC |
T |
T |
C___2617626_1_ |
rs2266855 |
IMS-JST020095 |
gamma-aminobutyric
acid (GABA) A receptor, epsilon |
GABRE |
Intron |
X |
149752456 |
0.45 |
0.45 |
0.35 |
0.35 |
hCV2617626 |
AGATTGTTCATTGCCTTTTAATCTCAGACTGGGTGTTACA[C/A]AACTGTGCACTCAGGTTTCCTTCCCGGAGGACAAGGCCTG |
A |
A |
C___8898373_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, epsilon |
GABRE |
Intron |
X |
149752917 |
0.44 |
0.34 |
0.43 |
0.38 |
hCV8898373 |
CTAAAGTGCCACCTTACTGGCCAAAGAAAATAAAGTTGCT[C/G]TCTCTTTTCTGAACCAGTCCTGTGTTCCATGCTAGGTTTG |
C |
C |
C___8898290_10 |
rs1491793 |
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
|
X |
149951717 |
|
|
0.24 |
0.03 |
hCV8898290 |
AACTTTTCCCATGCTAGAACTGGAGTTGGGGCACTAATGA[T/A]CCTGTGTCACATCAAGGGAGACCCTGCCACATGGAGCTGA |
A |
A |
C___2895190_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
149970780 |
0.2 |
0.44 |
0.24 |
0.05 |
hCV2895190 |
TTTACTGCAGTTCGATAAATCAGTTATTATAACCTCCATC[A/C]ATGTTCATTCTTCTATAGCTATGTTAATATCTCTTGTCTG |
C |
C |
C___2895199_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
149989259 |
|
|
0.3 |
0.42 |
hCV2895199 |
GGAGAGGGTCTCAAGAATGGGAATGGAAAATAGGGACATT[T/A]CCTGCAGATCTGAACTTGGAAAAGTTACAAGCCCTACTTC |
A |
A |
C___2895203_10 |
rs994423 |
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
149999808 |
0.15 |
0.37 |
0.46 |
0.45 |
hCV2895203 |
TGATATAAGATTGAGGAGGTAGGTAACCAGAATACAGGAT[C/A]TAAACCAAGATAGAGATCACAAAGAGTTTTAGTGAAAGGA |
A |
C |
C__11882009_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150012093 |
0 |
0.25 |
0.39 |
0.45 |
hCV11882009 |
GTACTCCTTAGGACCAGAAATCTCGCCTAATAAAATATCA[G/A]TATATGAGACTGAAAAAAACATGCCTCACTTCTATGCAAT |
G |
G |
C___2895213_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150031582 |
0.15 |
0.41 |
0.49 |
0.45 |
hCV2895213 |
TCCCATTAAATCTTCAAGCTATAGACAAGAAGCTCAGTAC[A/G]CAGGAAGGAGGGCCACCACTTTACTGCTCCATTTAGCCTT |
G |
A |
C___8898268_10 |
rs1365003 |
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150042865 |
|
|
0.25 |
0.38 |
hCV8898268 |
CAACTGTATATACCTGTATTCCTTGAAAGCAGTGGAGCGT[A/G]ACTGAAAGCAGACAGAAACCTAAGGTGAGTTTACCTTTGA |
A |
A |
C___1200137_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150068554 |
0 |
0.17 |
0.08 |
0.07 |
hCV1200137 |
ATTTCTCAAAACACCCGAAATATGCTTTTTAGCCAGAATG[A/T]TTGTAGCTATTCTGCCTTGTGACTGGATGGACATGCGGCT |
T |
T |
C___8898242_10 |
rs970417 |
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150100096 |
0.14 |
0.46 |
0.28 |
0.16 |
hCV8898242 |
AGGGAACACAGGACCATCATAATCAAGCTCCTTGCCCAGG[A/C]TGCAATGAGTCCCAGGAAAGGAAGATATCATGAGGTCAAA |
C |
C |
C___2968097_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150121338 |
0.14 |
0.32 |
0.29 |
0.17 |
hCV2968097 |
CTACCAAGCACTCAGCAACTAACATAGGGTCGTTCCTCAG[A/C]GAAAAGTGTGCCTTGTTCTCACCCCAAGAACTAGAACCAT |
C |
C |
C___2968095_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150139691 |
0.14 |
0.44 |
0.28 |
0.17 |
hCV2968095 |
CAACCTGAGAACCATTTATAACACTGTTTATGTGGAAAGA[C/T]ATTTTTTGACACAAAAGAAAAGAAAACTAAAGTACTAAAA |
T |
T |
C____571053_10 |
rs389292 |
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150159067 |
0.26 |
0.05 |
0.29 |
0.23 |
hCV571053 |
CGTTGAAACCATCTCTCATCTATGCATGTGCACCACAGTC[C/T]TTCTTATTTGAGGTTCATGCCTCCTATCTGTATCACTCTC |
T |
T |
C____267969_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150178481 |
0.39 |
0.28 |
0.19 |
0.33 |
hCV267969 |
CTAAAAATGGAATTTTCTGTACCATGAATATAATTTTGTG[C/T]ACCATGATTTTTTGTCATACAGTGTGTTTGCCTCCTTCTT |
A |
A |
C____267970_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150181535 |
0.36 |
0.28 |
0.21 |
0.32 |
hCV267970 |
TGGATACCACTCCTGAAGGATAGCCAACTGCTTGTGTATT[T/G]TATGTGTATACTAATTGATTCTCTGTGTATACATCATAGA |
A |
A |
C__11763006_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150212434 |
0.39 |
0.2 |
0.19 |
0.32 |
hCV11763006 |
TCTCTTAATCCAGAAAGAAGATTAACCCTATCTATCACTT[G/A]TGCAGCTTCCTTTACATACTAAACATGATTCTAGTTTGTT |
T |
T |
C__11762994_10 |
|
|
gamma-aminobutyric
acid (GABA) A receptor, alpha 3 |
GABRA3 |
Intron |
X |
150235616 |
0.43 |
0.42 |
0.29 |
0.37 |
hCV11762994 |
CCAAAAGACTTTGATTGGTCAGCTTCCTTTCCTTGAAAAT[C/G]GTACTTCACTTTTTATAGCCTCATCCACCCAACATGCTCC |
G |
G |
C__11762988_10 |
|
|
|
|
|
X |
150297837 |
0.08 |
0.04 |
0.03 |
0.09 |
hCV11762988 |
TCAATTCCCTGGCTTTCAAATTTTCTGATAATGTGACCCC[G/A]TCTGTGTTTTATCACCTTTTCAGCTACATTTATTTCTCCA |
T |
T |
C____257174_10 |
|
|
gamma-aminobutyric
acid (GABA) receptor, theta |
GABRQ |
Intron |
X |
150429303 |
0.21 |
0.48 |
0.04 |
0.12 |
hCV257174 |
GGCCATCAAGAACTGTGTTTCTTGGAACTCCTGTCACCAC[G/A]TAACACTTTTCTGGGGCTTCTTCACAACAGGCCTGGATGC |
T |
T |
C___8897537_10 |
|
|
gamma-aminobutyric
acid (GABA) receptor, theta |
GABRQ |
|
X |
150443502 |
0.41 |
0.35 |
0.39 |
0.33 |
hCV8897537 |
TTAAATGTACATCTTTGCATGAAAAGGACCTTGACTGGTC[T/C]GGACTTTAACAAAGTAAAATATGAAGAAACGTAAAATTAT |
A |
A |
C__16020401_10 |
rs2471776 |
|
chondrosarcoma
associated gene 1|melanoma antigen, family A, 12 |
CSAGE|MAGEA12 |
Intron |
X |
150519648 |
0.38 |
0.33 |
0.38 |
0.35 |
hCV16020401 |
TTACACCAACACCTTATCTCCCTGAGGGTTCCCCAACCTC[C/T]TGCCTGTGGTACAAATGAGATTGCCAATTGGAGCTATCTC |
T |
T |
C___3275636_10 |
rs3827416 |
|
NAD(P)
dependent steroid dehydrogenase-like|centrin, EF-hand protein, 2 |
H105E3|CETN2 |
Intron |
X |
150620064 |
0.11 |
0.18 |
0.5 |
0.41 |
hCV3275636 |
GTAACTTGTAAAAGAACCCCCAGGTGTCACCTCATGCATT[A/G]ATTTCCTCATTCACAAGTTATCAAATGCCAGCCACTACCA |
A |
A |
C__15756052_20 |
rs2301190 |
|
NAD(P)
dependent steroid dehydrogenase-like |
H105E3 |
Intron |
X |
150648234 |
|
|
0.15 |
0.04 |
hCV15756052 |
CTATTCTAAAGGAAGATATTCTCTTATGAGGGTCCCCAGC[A/G]TCCAGCCTGCTGGTTAAGAGAAGCTCATCCAACACTGAAC |
A |
A |
C___2953355_10 |
|
|
NAD(P)
dependent steroid dehydrogenase-like |
H105E3 |
|
X |
150655592 |
0.18 |
0.19 |
0.09 |
0.06 |
hCV2953355 |
CAAATGGGTTGTAGCTTCCTACAGCTTCCTTGATTATGTA[T/C]AAGGACACTGGAATGAAATGTATAAACCAGAAGAGGGGGC |
T |
T |
C___2609266_10 |
rs735357 |
|
zinc
finger protein 185 (LIM domain) |
ZNF185 |
|
X |
150702424 |
0.16 |
0.15 |
0.3 |
0.42 |
hCV2609266 |
GGGGTCAGGGTAGACCCTTCTGTCCTGCAGTGGAGGGGAT[G/C]TGGGCTGGAGCATCGGGGTTTGGGTCAAGGGCAACACAGA |
G |
G |
C____334125_1_ |
rs2071262 |
IMS-JST006631 |
zinc
finger protein 185 (LIM domain) |
ZNF185 |
Intron |
X |
150715191 |
0.27 |
0.15 |
0.32 |
0.28 |
hCV334125 |
ACCAACATCCCCAGCACGGCTGACTGGTCCCATCTTCAGC[A/G]ATTGGCAGGGTTGAGCTGTCACTTCCCAGGGGCTCCTGGC |
A |
A |
C___2609304_10 |
rs13839 |
|
zinc
finger protein 185 (LIM domain) |
ZNF185 |
UTR
3 |
X |
150759102 |
|
|
0.24 |
0.21 |
hCV2609304 |
ATGGAATGTTCCTCTCTGATCATTTGGCAGGAAGAACAAG[T/C]CCACAAGCCAATGTGCATAGGGCTCAGAAACTGGAGAAAG |
T |
T |
C__15756026_10 |
rs2301182 |
IMS-JST057148 |
hypothetical
protein MGC15827|paraneoplastic antigen MA3 |
MGC15827|PNMA3 |
|
X |
150845946 |
0.31 |
0.08 |
0.32 |
0.3 |
hCV15756026 |
CAGCCCCGCTCCGTCCTGGGTCCAGTTCTTCCTCCCACAG[C/T]CACGGTCACCATCGTGGTCACAGGGTGAGCGTCCGCCTTG |
C |
C |
C___8898182_10 |
rs874865 |
|
|
|
|
X |
151009107 |
0.21 |
0.43 |
0.29 |
0.5 |
hCV8898182 |
CCACCACACTGCACTTTCTATAGCACTGCCTGTGGTCTTG[C/T]CTTCTGTGGCACCCCCGTATCTTGCTTTCAGTCCCCCATG |
A |
A |
C__11778692_1_ |
rs3213466 |
|
zinc
finger protein 275 |
ZNF275 |
|
X |
151042320 |
|
|
0.46 |
0.44 |
hCV11778692 |
GTCCTTGTGCCAGGTGAGGGACCAAGGCAGGATTTAAAAC[A/G]GGAACGCCTGCTCATGGGAAAGGAGATTGGTTATGGCGAC |
T |
C |
C___8249675_10 |
rs8781 |
|
zinc
finger protein 275 |
ZNF275 |
|
X |
151048076 |
0.38 |
0.09 |
0.19 |
0.14 |
hCV8249675 |
CAAGGAAATCCACCCCCAAGTTACCAGAGGCAAGAAATGA[A/T]CTTGGCGAAATTACAGGACACACGTTAAAGCCACAGACTG |
A |
A |
C____342042_10 |
|
|
three
prime repair exonuclease 2 |
TREX2 |
|
X |
151172136 |
0.25 |
0.21 |
0.04 |
0.21 |
hCV342042 |
GCAGTTTCTCCATGGTTTTTCTAAAAGGATCTGATGTTCT[A/C]CTGGTGGTCTGAATTTGCATTGGCTGACACTTGAGGGAGC |
T |
T |
C___8898145_1_ |
rs933190 |
IMS-JST035088 |
three
prime repair exonuclease 2 |
TREX2 |
Intron |
X |
151197980 |
0.27 |
0.3 |
0.27 |
0.17 |
hCV8898145 |
TTGCCTTATAACCTCCTTTCTATCATTTCTTGGTAGAAAC[C/T]GTGCTTAACCTGGTAATGAATGTTGGATAAAGGTGAGCAA |
A |
A |
C__11231854_10 |
rs2980042 |
|
biglycan|three
prime repair exonuclease 2 |
BGN|TREX2 |
|
X |
151223173 |
0.17 |
0.07 |
0.1 |
0.19 |
hCV11231854 |
GGAGGGCTCAGAACAGAATGTGGCGAAGGCGAGGGGTGGG[C/T]CCGTGGGGGGCCAGTGAGGGGCAGTTGGAGAAGAATTTGG |
G |
G |
C___2617574_1_ |
rs2070932 |
IMS-JST006042 |
biglycan |
BGN |
Silent
Mutation |
X |
151239413 |
0.39 |
0.14 |
0.4 |
0.38 |
hCV2617574 |
AGGCCCTCAGCTCACCGATGCAGTTCATGTTCCGGAGCCC[A/G]CTGAACACTCCCTTGGGCACCTTGCGGATGCGGTTGTCGT |
T |
T |
C___2617576_10 |
rs743641 |
|
biglycan |
BGN |
UTR
3 |
X |
151242058 |
0.05 |
0.41 |
0.32 |
0.25 |
hCV2617576 |
CGAGAAAAAAGCTTCATGGGGTGCCTCTGGGTGGCTGTGG[A/T]GGGAGAGCAGGGGCAGCTCTGAGGCCAAGGGAACATGTGA |
T |
T |
C___2289837_10 |
rs743642 |
|
biglycan |
BGN |
UTR
3 |
X |
151242125 |
0.05 |
0.36 |
0.32 |
0.24 |
hCV2289837 |
CCTGGCTGCTGACCCAGGGACTGTTCTCCTAGGACTGGAG[C/A]CTTGGACACTTGGGTTTGGGAGTGAACGAGAAAAAAGCTT |
T |
T |
C____337501_10 |
|
|
|
|
|
X |
151258668 |
0.18 |
0.34 |
0.42 |
0.26 |
hCV337501 |
CACCCCTGGCCCGCAATCTGTGGGAATGTAGGTTCAGTTT[C/T]GAACCGGCCACTCCATGCGCCTTAACCCGGTTCAGGGTTT |
G |
G |
C___2617582_10 |
rs2980078 |
|
ATPase,
Ca++ transporting, plasma membrane 3 |
ATP2B3 |
|
X |
151267031 |
0.14 |
0.36 |
0.41 |
0.32 |
hCV2617582 |
ATGGTCCCGGGGCCAACTTCCTTCTCCTCGGCTGGCCCTG[G/C]TGGCCCTCCCCACTGCAGGATCCCCACCCCTCAGCAAGCA |
G |
G |
C___2617584_1_ |
rs2269413 |
IMS-JST023569 |
ATPase,
Ca++ transporting, plasma membrane 3 |
ATP2B3 |
Intron |
X |
151287017 |
0.35 |
0.22 |
0.41 |
0.34 |
hCV2617584 |
GACCTTTGCTGTGAGCTCGCCACAGGACGTCCTGACCATA[G/C]AGTAGCCCCAGCCAAACCCTCAACCAATAAACGCCCACCC |
C |
C |
C____224177_10 |
|
|
ATPase,
Ca++ transporting, plasma membrane 3 |
ATP2B3 |
Intron |
X |
151310645 |
0.41 |
0.16 |
0.4 |
0.45 |
hCV224177 |
TCACTGCACCTGGCTCAACTCCAAAGACCTCCATAAAGGA[C/G]AGCCAGGCCACGGAGCCAGCCCTTCCTTCCAGGCTGGGCT |
C |
C |
C__15874711_10 |
rs2280924 |
IMS-JST029305 |
hypothetical
protein MGC29729 |
MGC29729 |
Intron |
X |
151325597 |
0.05 |
0.13 |
0.06 |
0.08 |
hCV15874711 |
TCGCCGGTGTCCCGGGAGGAGGGTTGCCCCAGCGGAGAAC[C/T]GCTTTTACTGAATTGAGTGGGAACTTGACTGTGATCACAG |
A |
A |
C____305563_10 |
|
|
hypothetical
protein MGC29729 |
MGC29729 |
|
X |
151333355 |
0.03 |
0.18 |
0.05 |
0.07 |
hCV305563 |
TGATCTGAATGTATCAGAATGACTCCAGTGACTGTCACTA[G/A]CTTGGGAGTGAGTACCTTTGGGGTTCTATGTCCCTAAAGC |
T |
T |
C____251293_10 |
|
|
hypothetical
protein MGC29729 |
MGC29729 |
|
X |
151335540 |
0.05 |
0.07 |
0.04 |
0.08 |
hCV251293 |
TCGGAAGGTACAGTGGAGAGGTGACTGTGGCAGGAGGTTC[C/T]CAGGCAGCGAGGAGTTTCTAAGGACAAGTGGCAGGCCTGG |
A |
A |
C____477210_10 |
|
|
dual
specificity phosphatase 9 |
DUSP9 |
|
X |
151369804 |
0.26 |
0.42 |
0.4 |
0.36 |
hCV477210 |
AGGATTGGCCTGCTCCCAGCACTGCCCCCTGGCTGGCTGT[A/G]GTCAGAATTGCCCTATGGTGGATGGTGGGTGGTTCTTTGG |
T |
T |
C__11232144_1_ |
rs2266882 |
IMS-JST020123 |
plexin
B3|serine/threonine kinase 23 |
PLXNB3|STK23 |
Intron |
X |
151505712 |
0.24 |
0.34 |
0.12 |
0.18 |
hCV11232144 |
TTCCTGCTCCCCGCAGACCCAGCTTGACATCCTTACTAGG[C/T]GCCTGTCCTTCCTGGCCCTCCCTCCTACCCTCCCCTGCGT |
A |
A |
C__15861088_10 |
rs2071122 |
|
plexin
B3|serine/threonine kinase 23|signal sequence receptor, delta
(translocon-associated protein delta)|LU1 protein|isocitrate dehydrogenase 3
(NAD+) gamma |
PLXNB3|STK23|SSR4|KIAA1444|IDH3G |
|
X |
151519811 |
0.22 |
0.38 |
0.33 |
0.28 |
hCV15861088 |
TCCTTCTGCCCTCCACCCACTCTCCTTCGTCTTGCCTCCC[T/C]AGGCTACGAGGAACACCGGCAAGAGTATCGCCAATAAGAA |
G |
G |
C__15868309_10 |
rs2071123 |
|
plexin
B3|serine/threonine kinase 23|signal sequence receptor, delta
(translocon-associated protein delta)|LU1 protein|isocitrate dehydrogenase 3
(NAD+) gamma |
PLXNB3|STK23|SSR4|KIAA1444|IDH3G |
|
X |
151520553 |
0.23 |
0.4 |
0.33 |
0.28 |
hCV15868309 |
CTGGGGCCCTCTGCACGCCCCGTCCCTCTGGCTGACTGTT[G/T]CGATGGCCAAGCTGGTGTCCTATTCCTAACCCCCCACCAG |
C |
C |
C__15876552_10 |
rs2269367 |
IMS-JST023507 |
signal
sequence receptor, delta (translocon-associated protein delta)|LU1
protein|isocitrate dehydrogenase 3 (NAD+) gamma |
SSR4|KIAA1444|IDH3G |
UTR
3 |
X |
151535644 |
0.02 |
0.08 |
0.19 |
0.07 |
hCV15876552 |
AGAGGCCCCCAACCTCCTCAGGATTTGCACGTGTGAACTA[C/G]GCTGCCTGTGGGGTGCCCCTTAGGCTTGGAGAGCCCCAGA |
G |
G |
C__16135117_10 |
rs2071127 |
|
L1
cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1,
MASA (mental retardation, aphasia, shuffling gait and adducted thumbs)
syndrome, spastic paraplegia 1) |
L1CAM |
Intron |
X |
151597460 |
0 |
0.2 |
0.2 |
0.03 |
hCV16135117 |
CCTTTTCCCTGTCCCTGTCACTCCTTAGCCCCCCAGAGGG[T/C]CCCAACTTTAAGAGCATACTTCAGGGCCTCAGGTCGGGTT |
G |
G |
C___2611421_10 |
rs3761529 |
|
Rho
GTPase activating protein 4|arginine vasopressin receptor 2 (nephrogenic
diabetes insipidus) |
ARHGAP4|AVPR2 |
|
X |
151636311 |
0.19 |
0.45 |
0.26 |
0.24 |
hCV2611421 |
ACTACGGTGGTAAGATGGGCAGGGGTGGGGACTGGCAGGG[C/T]CTTGGGAAAGCCTTTGTTCCCTCCGTCTAAAGCCGGCTAG |
G |
G |
C___2611424_1_ |
rs2269368 |
|
ARD1
homolog, N-acetyltransferase (S. cerevisiae)|Rho GTPase activating protein 4 |
ARD1|ARHGAP4 |
Intron |
X |
151657723 |
|
|
0.28 |
0.38 |
hCV2611424 |
GAGATCCGAAAGCTCTGCCAGGAAAGCCACCAATGCAATC[G/A]ACTTGCAATTCACAAGTTGCCTGCTCAACACCAGCCGGTG |
C |
C |
C___2611427_1_ |
rs2071128 |
|
ARD1
homolog, N-acetyltransferase (S. cerevisiae)|Rho GTPase activating protein
4|renin binding protein |
ARD1|ARHGAP4|RENBP |
UTR
3 |
X |
151663297 |
|
|
0.28 |
0.38 |
hCV2611427 |
CCCCATCCCCTCCTCACCCCACGAGCTTTCACAATAAATT[C/T]GCTCCGTGGCACTGGGGAACTTTGTGTGTGAGCGCGCGCA |
G |
G |
C__15876539_10 |
rs2269372 |
IMS-JST023513 |
ARD1
homolog, N-acetyltransferase (S. cerevisiae)|host cell factor C1
(VP16-accessory protein)|renin binding protein |
ARD1|HCFC1|RENBP |
Intron |
X |
151675449 |
0.15 |
0.27 |
0.23 |
0.31 |
hCV15876539 |
AGGGAGGGAGGAAGGGCTTTCCGGAGCTGGGTCTTTCTAG[C/T]TGGGTGGCTGGGTGGGTGAAAGGGCTGGAGGCAACATTCC |
#N/A |
#N/A |
C_____13880_10 |
rs762656 |
|
host
cell factor C1 (VP16-accessory protein)|renin binding protein |
HCFC1|RENBP |
|
X |
151679556 |
0.15 |
0.26 |
0.22 |
0.25 |
hCV13880 |
CCACTCAGTCTGGGGAGGCAGGAGGGAGGCTGGACATGAA[C/T]GTGAACATGACAGGCCTGTGAGCAGGGCAGGTAGATACAG |
A |
A |
C___2611435_1_ |
rs17421 |
|
host
cell factor C1 (VP16-accessory protein) |
HCFC1 |
Intron |
X |
151693538 |
|
|
0.22 |
0.27 |
hCV2611435 |
CCAGCCGACTCCCCTCCTCCCATAGCCTCCCGCCCCTTCT[C/G]ACCAACTGCGTTCTCCCACAGAAAAGCCACCACCCCCAGC |
G |
G |
C___2611438_1_ |
rs2266886 |
|
chromosome
X open reading frame 12|host cell factor C1 (VP16-accessory protein) |
CXorf12|HCFC1 |
|
X |
151699256 |
|
|
0.22 |
0.27 |
hCV2611438 |
AGACTGGGTGGGACCAGAGTGCAGTGGGGCATGCATTCCC[A/G]ACCATGGTCAGCCGCCTGGCCCTGGGTGCACACCTGAATA |
T |
T |
C__15765198_10 |
rs3027898 |
|
interleukin-1
receptor-associated kinase 1 |
IRAK1 |
|
X |
151743794 |
0.16 |
0.37 |
0.21 |
0.24 |
hCV15765198 |
GCACCGAAAGCCTTGAGCTTTCCTGATGCCTTACACTTCA[T/G]GGTTCTTGAGCGTCCAGGGTCTTGTTACTACTCTGGGCTG |
A |
A |
C___2277188_10 |
rs763737 |
|
interleukin-1
receptor-associated kinase 1|methyl CpG binding protein 2 (Rett syndrome) |
IRAK1|MECP2 |
Intron |
X |
151746211 |
0.14 |
0.4 |
0.22 |
0.25 |
hCV2277188 |
AGGCCACATCCTTCCCAGGTGGAGCTTGCTCTCCAGCCCT[T/C]CCCCCACCCCATTCCTGAAGGCTGGGAACAAGGAGGGCTC |
#N/A |
#N/A |
C___8966356_10 |
|
|
methyl
CpG binding protein 2 (Rett syndrome) |
MECP2 |
Intron |
X |
151766778 |
0.14 |
0.2 |
0.28 |
0.27 |
hCV8966356 |
GGGGAAGCCTCCCACACTAGAATAGGTAGGGTGCTCTTCT[C/G]CACCGGCAGGAAGGGGATGTATGGCTCTGCCTGGACCACA |
C |
C |
C___8966344_1_ |
rs1734787 |
IMS-JST010611 |
methyl
CpG binding protein 2 (Rett syndrome) |
MECP2 |
Intron |
X |
151793350 |
0.14 |
0.11 |
0.26 |
0.26 |
hCV8966344 |
CTTAGTATTTGTGTAACAACATTTGTGTTTTGCCAACAGA[G/T]GTACTGCTTAAAGTACCCATGAGAATGGCCTCTGTGGTTT |
A |
A |
C___3275666_10 |
rs1734791 |
|
methyl
CpG binding protein 2 (Rett syndrome) |
MECP2 |
Intron |
X |
151798824 |
|
|
0.24 |
0.27 |
hCV3275666 |
TGTCACCAGAGATGAGCCACCATGCCCTGCCTGATACTTT[T/A]CTTTTATCATCTGTTTATTTCTTGTTTATGGGTGTTTCTG |
A |
A |
C___2220568_1_ |
rs766420 |
IMS-JST010615 |
transketolase-like
1 |
TKTL1 |
Intron |
X |
152022308 |
0.14 |
0.36 |
0.31 |
0.13 |
hCV2220568 |
AGAATACCAGAGATCATGTTCCCTTTTATTCCTGGCCTTA[G/C]ATCTGTAAAATCTGAACCTAACAGATTATTCATTTCAAGT |
G |
G |
C___2462509_1_ |
rs2239466 |
IMS-JST010616 |
transketolase-like
1 |
TKTL1 |
Intron |
X |
152022787 |
0.14 |
0.36 |
0.32 |
0.13 |
hCV2462509 |
GGAAACACCTGCTTTATGGCAGCACTCTGGCCATTCTGAG[T/C]ACTTGCAACTGTGAATTCTGGAGCAGCCTAGTCCTTAGCA |
G |
G |
C__11288007_1_ |
rs2239467 |
IMS-JST010617 |
transketolase-like
1 |
TKTL1 |
Intron |
X |
152023198 |
0.13 |
0.3 |
0.32 |
0.13 |
hCV11288007 |
CCCCTCTGTATAGGTTTCCCTGTAGCTTAAGAACCATTGC[C/T]GATAGTACAGAAAGGGTTTCTGAGCCACCCCATTCTTTAA |
G |
G |
C___2462514_10 |
rs2872817 |
|
transketolase-like
1 |
TKTL1 |
UTR
3 |
X |
152026322 |
|
|
0.37 |
0.18 |
hCV2462514 |
CTACTGGAATCTATACTTCAATCCACATTTTCTTTACTCA[C/T]GAAGGAAATACATTGAAAAAACTATTACCTCTACCAGTTA |
G |
G |
C__11358782_10 |
rs17428 |
|
emerin
(Emery-Dreifuss muscular dystrophy)|filamin A, alpha (actin binding protein
280) |
EMD|FLNA |
|
X |
152077879 |
0.12 |
0.18 |
0.36 |
0.17 |
hCV11358782 |
TATCCCCAGACTAAAGCAAAAATGCGGACCCAACAAAGCC[A/G]GATTGCAATCCTGGAGCCCCAAGACGCAGAGGCCCTTGCC |
T |
T |
C__11927616_10 |
|
|
deoxyribonuclease
I-like 1|ribosomal protein L10 |
DNASE1L1|RPL10 |
|
X |
152094563 |
0.05 |
0.42 |
0.04 |
0.09 |
hCV11927616 |
TAGGCGGTCTGTCTGCGCGCGTAAGAACCATAGAGTCCTG[G/T]CGAAGACGGGTGGACGCTCTGTCAGACGTCATGACCATAG |
C |
C |
C___7493076_10 |
rs6567 |
|
DNA
segment on chromosome X (unique) 9879 expressed sequence|likely ortholog of
mouse plexin 3|ubiquitin-like 4|solute carrier family 10 (sodium/bile acid
cotransporter family), member 3|Protein P3 |
DXS9879E|PLXN3|UBL4|SLC10A3|P3 |
UTR
3 |
X |
152174168 |
0.09 |
0.33 |
0.2 |
0.05 |
hCV7493076 |
TGGGCCCCCCGTTTCCCGCTAAGCCTGGCCTGGGCAAATG[C/G]AGCGAGGTCCCACTTTGCGTCTCCTTGTAGGCAGTGCGTC |
G |
G |
C___2198327_10 |
rs2315325 |
|
DNA
segment on chromosome X (unique) 9879 expressed sequence|likely ortholog of
mouse plexin 3|ubiquitin-like 4|solute carrier family 10 (sodium/bile acid
cotransporter family), member 3|Protein P3 |
DXS9879E|PLXN3|UBL4|SLC10A3|P3 |
|
X |
152178442 |
0.13 |
0.31 |
0.21 |
0.05 |
hCV2198327 |
ATAGGCAATCAGGCAAGAATATTTTTGGAAGCATCCAGGG[A/C]AGCTGCTACTGTATCCTTTCCTCCTCTGACCACACTCACC |
G |
G |
C___2198330_10 |
rs1050047 |
|
DNA
segment on chromosome X (unique) 9879 expressed sequence|ubiquitin-like
4|solute carrier family 10 (sodium/bile acid cotransporter family), member
3|Protein P3 |
DXS9879E|UBL4|SLC10A3|P3 |
UTR
3 |
X |
152181352 |
0.12 |
0.32 |
0.19 |
0.03 |
hCV2198330 |
CGGGTCCAACATAGCCCTCAGCTTACCTCTGCAGGAGGCC[G/A]AGTGACAGCCAGCCCTGGAACCCCCCGACCCCCGCAGCTG |
T |
T |
C____140027_10 |
rs4232906 |
|
SPCX|inhibitor
of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
SPCX|IKBKG |
|
X |
152265682 |
0.34 |
0.07 |
0.21 |
0.3 |
hCV140027 |
TGGACGGGCTACTGGGCTCATTTTCGTGAAGGAACAGATC[A/G]GGACTGGAAGACAGAAATCTGTCATCAGCATCAAGGCCTT |
T |
T |
C__25649404_10 |
rs4326559 |
|
GRB2-associated
binding protein 3|cancer/testis antigen 2 |
GAB3|CTAG2 |
Silent
Mutation |
X |
152348381 |
0.3 |
0.08 |
0.2 |
0.18 |
hCV25649404 |
CGGAGCTGGTCCGCAGGATCCTGTCCCGGGATGCCGCACC[T/G]CTCCCCCGACCAGGGGCGGTTCTGAAGGACTTCACCGTGT |
C |
C |
C__16269104_10 |
rs2664169 |
|
GRB2-associated
binding protein 3 |
GAB3 |
Intron |
X |
152407214 |
0.27 |
0.27 |
0.16 |
0.15 |
hCV16269104 |
ATTGTGGTTTTTCAGTAACCTCTTCTTTACTGCTTTGCTG[G/A]GCCACCTCATCTTTCTGCCATGAGCCAACCAACCTTAGCA |
T |
T |
C__15924058_10 |
rs2728725 |
|
GRB2-associated
binding protein 3 |
GAB3 |
Intron |
X |
152431307 |
0.27 |
0.38 |
0.18 |
0.16 |
hCV15924058 |
GAGCAGCTGGAAGGATAGAGTTGCCATGTACTGAGATGTG[G/A]AAGCCCCAACTACCCCCATGGGCTCCATTCTGGGAAGATG |
T |
T |
C___1571511_10 |
rs2728530 |
|
dyskeratosis
congenita 1, dyskerin |
DKC1 |
Intron |
X |
152459009 |
0.29 |
0.07 |
0.17 |
0.23 |
hCV1571511 |
GACCCCAGGGAGGTGAGAGGGCCGAGCCCCATCATGCCAA[A/G]TCACCGCGAGGGGCTCCCACTCTCGCGCCCTTGCCACGGA |
C |
C |
C__15924072_10 |
rs2728729 |
|
dyskeratosis
congenita 1, dyskerin|membrane protein, palmitoylated 1, 55kDa |
DKC1|MPP1 |
Intron |
X |
152476898 |
0.21 |
0.26 |
0.18 |
0.13 |
hCV15924072 |
GGGCCAAGAAGCCAAAGGGTATGCACATTCGTTCCAGCTC[C/T]TAAGCCACTAGCTAGGCCAGTGCCCATGCTAGCTAACAGG |
A |
A |
C___1571512_10 |
|
|
membrane
protein, palmitoylated 1, 55kDa |
MPP1 |
Silent
Mutation |
X |
152487665 |
0.17 |
0.26 |
0.25 |
0.16 |
hCV1571512 |
TAAAGCTTATTGTGCCGTCGCCTTTATTTCAGGGAATCAC[G/T]CTGAAGCTGAATGAAAAACAGTCCTGTACGGTGGCCAGAA |
C |
C |
C__11358769_10 |
rs1848762 |
|
membrane
protein, palmitoylated 1, 55kDa |
MPP1 |
Intron |
X |
152490503 |
0.17 |
0.28 |
0.28 |
0.15 |
hCV11358769 |
CTTTTCTAGGCCTTGGGCAGGCCAGTGGACACTGCTCAGG[C/A]ATACCATCTATTCCCATCTAGGGACCCTTCTCCTTCCCCA |
G |
G |
C___8789266_10 |
rs1467061 |
|
coagulation
factor VIII, procoagulant component (hemophilia A) |
F8 |
|
X |
152524579 |
0.05 |
0.49 |
0.02 |
0.06 |
hCV8789266 |
CATATGCAGGGCTTCAACTGAAGGACTCTAAGATGGTGAA[A/G]CCACATGATGGAAGGAGCTGGGATCCCTGAATCACCTTGT |
C |
C |
C___8339262_10 |
rs1470586 |
|
coagulation
factor VIII, procoagulant component (hemophilia A) |
F8 |
Intron |
X |
152660958 |
0.13 |
0.21 |
0.25 |
0.16 |
hCV8339262 |
TAAACAGCTGGGAAAATTCAGTTTTATATTATCTGTTCCC[A/G]CAGCTGCTCAGTTTCTTCTAACCACAGGTCAGGGAATATA |
T |
T |
C__11287905_10 |
rs2051161 |
|
hepatitis
C virus core-binding protein 6|mature T-cell proliferation 1 |
HCBP6|MTCP1 |
|
X |
152708165 |
0.21 |
0.12 |
0.35 |
0.24 |
hCV11287905 |
GAAGCCTTCACTACGTAGATGCCATCCTATTGGTTGACAA[G/C]TTGGAAGCCTTGAGTGCGGTGTTACCACGTCGCCGCCACA |
G |
G |
C___1275630_10 |
|
|
c6.1A|mature
T-cell proliferation 1 |
C6.1A|MTCP1 |
Intron |
X |
152717214 |
0.08 |
0.25 |
0.02 |
0.06 |
hCV1275630 |
TTTTCCTAACAAGAAAATCCCCTTCTAGAAATGCCCATCC[T/G]CTATTTGTAAACTTTCTTAGTAAACTGATAAATAGATCAT |
A |
A |
C____717517_10 |
rs543054 |
|
RAB39B,
member RAS oncogene family |
RAB39B |
Intron |
X |
152915420 |
0.16 |
0.37 |
0.33 |
0.23 |
hCV717517 |
CTTGCACCACAACTCCACCAACCTGCCCTTTGGTGGCTAA[T/C]AAACTAGCTGGAATTGATCTCTGTATCTGTAATTCATCAA |
G |
G |
C____717532_10 |
rs559165 |
|
chloride
intracellular channel 2 |
CLIC2 |
UTR
3 |
X |
152929487 |
0.14 |
0.48 |
0.33 |
0.22 |
hCV717532 |
TGTGGCTAAACAGAAGAGTTAGGAGAGCTCTTACAGGAGA[C/A]AAGGCTATATTTGTGATCAGATTTTACTTATTGACATATT |
G |
G |
C___8339339_10 |
|
|
trimethyllysine
hydroxylase, epsilon |
TMLHE |
Intron |
X |
153254705 |
0.16 |
0.49 |
0.33 |
0.22 |
hCV8339339 |
TCAAATGGTGGTAATGCCCAGCCAAGGAATACACCCTGTG[A/T]TCCAGCCTGATCAGAGGTGATTGTAAAGCCCAGCCAACAA |
A |
A |
C___2407889_10 |
rs569049 |
|
trimethyllysine
hydroxylase, epsilon |
TMLHE |
|
X |
153282632 |
0.16 |
0.5 |
0.35 |
0.25 |
hCV2407889 |
CCAACTATTATTGTTCACAGAGTCAGTATGAGTGCAAGAA[T/C]ATGCAAGAACAGCTAAGTTTTGTGATCAAACTCTGTCACT |
T |
T |
C___2407888_10 |
rs561841 |
|
trimethyllysine
hydroxylase, epsilon |
TMLHE |
|
X |
153283354 |
0.15 |
0.42 |
0.33 |
0.27 |
hCV2407888 |
TCAAGGGTCTCTTCATTTATACCGTATCTTATTACACAAC[A/G]TCTATGCATCTGAGAAAGGAACTTCACCAACAGAGCAGTG |
G |
G |
C__25594844_10 |
rs963311 |
|
synaptobrevin-like
1 |
SYBL1 |
Intron |
X |
153559506 |
|
|
0.38 |
0.24 |
hCV25594844 |
|
#N/A |
#N/A |
C___2483835_10 |
rs967495 |
|
synaptobrevin-like
1 |
SYBL1 |
Intron |
X |
153562694 |
0.39 |
0.42 |
0.38 |
0.23 |
hCV2483835 |
TGCCTATTATGTTTTTCTTATTTTCTTGAGATTAATTATC[G/A]GGAATGGGATTAATAATCAAAATGCGCAAACGTTTTCGTG |
A |
A |
C____339964_10 |
rs909438 |
|
synaptobrevin-like
1 |
SYBL1 |
Intron |
X |
153581851 |
0.36 |
0.21 |
0.39 |
0.24 |
hCV339964 |
GACATCGATTGGAAAGCGCCAATAAGCCTTAAAGGAGACA[A/G]TGTGTCCTTGTGAGCTGCTTATACTATGGTTCCGTATGTC |
A |
A |
C___1843050_10 |
|
|
interleukin
9 receptor |
IL9R |
|
X |
153660834 |
|
|
0.42 |
0.23 |
hCV1843050 |
CCCTGACTTCTTCCTGAGCTGTGGCCCAGCGTTCCCACAG[A/G]CATTTACCTCACGGATGCAGCACTGCCCCTCATCCTCTTC |
G |
G |
C__11928045_1_ |
|
|
interleukin
9 receptor |
IL9R |
|
X |
153664929 |
|
|
0.42 |
0.18 |
hCV11928045 |
AGCTCAGCTCTGGCCTGAAGTACTTACCGTGGGCTCCTGA[C/T]GGTCACTGTCTCCAGGGCCAAGGTCTAGAACCTTCACCTG |
T |
T |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|