regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(886): Show |
intron_variant | MODIFIER | HG01070.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072a0001c0001t0002g0137 | 2 | 350 | 0.0057 | 893 | c.734 others(910): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(886): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 300 | 0.0033 | 893 | c.117 others(910): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(886): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 312 | 0.0032 | 893 | c.306 others(912): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492397 | C | CGGGAGAC others(886): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0048 | 1 | 295 | 0.0034 | 893 | c.126 others(912): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(886): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0132 | 1 | 220 | 0.0046 | 893 | c.24+ others(910): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RGPD8_chr2_112363369_112438645 | 112432885 | T | TCCGCCTC others(886): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02145.hp2 HG02258.hp1 others(4): Show |
a0006a0011 | a0006c0007a0011c0014 | a0006c0007t0006a0006c0007t0013a0011c0014t0006 | a0006c0007t0006g0226a0006c0007t0006g0228a0006c0007t0006g0231others(4): Show | 7 | 254 | 0.0276 | 893 | c.72+ others(906): Show |
RGPD8 | ENSG00000169629.12 | transcript | ENST00000302558.8 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130641415 | A | ATCACGGG others(886): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0033 | a0002c0033t0008 | a0002c0033t0008g0166 | 1 | 180 | 0.0056 | 893 | c.-35 others(914): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356244 | C | CACTTACT others(886): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03453.hp2 HG03516.hp1 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0003a0001c0001t0017a0007c0014t0018 | a0001c0001t0003g0101a0001c0001t0017g0099a0007c0014t0018g0102 | 3 | 133 | 0.0226 | 893 | c.-37 others(904): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3438 | chr17 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(886): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0073a0001c0011t0001g0112 | 2 | 203 | 0.0099 | 893 | c.279 others(910): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GAAGGAAG others(886): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0006 | a0002c0006t0018 | a0002c0006t0018g0223 | 1 | 314 | 0.0032 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0218 | 1 | 314 | 0.0032 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG02451.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0007others(1): Show | a0001c0002t0005a0001c0002t0048a0001c0004t0011others(3): Show | a0001c0002t0005g0211a0001c0002t0005g0212a0001c0002t0048g0099others(4): Show | 7 | 314 | 0.0223 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0216 | 1 | 314 | 0.0032 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02602.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0024a0001c0004t0011a0001c0004t0016others(1): Show | a0001c0002t0024g0120a0001c0004t0011g0175a0001c0004t0016g0062others(1): Show | 4 | 314 | 0.0127 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0088 | 1 | 314 | 0.0032 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02083.hp1 HG04184.hp1 |
a0001a0002 | a0001c0002a0002c0006a0002c0016 | a0001c0002t0002a0002c0006t0001a0002c0016t0021 | a0001c0002t0002g0026a0002c0006t0001g0153a0002c0016t0021g0050 | 3 | 314 | 0.0096 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01975.hp1 NA18942.hp1 others(5): Show |
a0001a0002a0007 | a0001c0002a0002c0006a0002c0010others(2): Show | a0001c0002t0056a0002c0006t0018a0002c0010t0003others(2): Show | a0001c0002t0056g0283a0002c0006t0018g0222a0002c0010t0003g0166others(5): Show | 8 | 314 | 0.0255 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0270 | 1 | 314 | 0.0032 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 402144 | A | ACCCCCGC others(886): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 242 | 0.0041 | 893 | c.*37 others(904): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3571 | chr11 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965362 | T | TCCCCAAT others(886): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0068 | 1 | 190 | 0.0053 | 893 | c.72+ others(910): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(886): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 268 | 0.0037 | 893 | c.*73 others(904): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(886): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 268 | 0.0037 | 893 | c.*73 others(904): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(886): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297a0001c0001t0002g0321a0001c0001t0002g0324 | 3 | 378 | 0.0079 | 893 | c.819 others(910): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(886): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0164a0001c0001t0002g0176a0001c0001t0002g0179others(1): Show | 4 | 378 | 0.0106 | 893 | c.819 others(910): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377496 | T | TGTGTGCC others(886): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0273 | 1 | 370 | 0.0027 | 893 | c.-15 others(904): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1471 | chr19 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948575 | G | GGGGCGTG others(886): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0143 | 2 | 356 | 0.0056 | 893 | c.114 others(910): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5369891 | G | GTGTGTAT others(886): Show |
intron_variant | MODIFIER | NA19001.hp2 NA19005.hp2 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0402a0001c0002t0005g0403a0001c0002t0005g0404 | 3 | 468 | 0.0064 | 893 | c.-6- others(908): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(886): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0156 | 1 | 468 | 0.0021 | 893 | c.-6- others(908): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(886): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0098 | 1 | 468 | 0.0021 | 893 | c.-6- others(908): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(887): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 306 | 0.0033 | 894 | c.130 others(913): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418984 | C | CTCCCTCC others(887): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0083 | a0002c0002t0083g0216 | 1 | 262 | 0.0038 | 894 | c.106 others(913): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(887): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 262 | 0.0038 | 894 | c.106 others(913): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(887): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0142 | 1 | 286 | 0.0035 | 894 | c.539 others(907): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431622 | C | CGGGTATC others(887): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 286 | 0.0035 | 894 | c.539 others(907): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(887): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03098.hp1 others(1): Show |
a0001a0021 | a0001c0026a0001c0141a0001c0157others(1): Show | a0001c0026t0007a0001c0141t0007a0001c0157t0006others(1): Show | a0001c0026t0007g0091a0001c0141t0007g0099a0001c0157t0006g0093others(1): Show | 4 | 363 | 0.0110 | 894 | c.-48 others(911): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(887): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 391 | 0.0026 | 894 | c.*36 others(905): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(887): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01175.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014a0002c0002t0003g0094 | 4 | 390 | 0.0103 | 894 | c.109 others(909): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882338 | C | CGGGAGAA others(887): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0102 | 1 | 288 | 0.0035 | 894 | c.303 others(913): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(887): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0014 | a0001c0007t0014g0044 | 1 | 272 | 0.0037 | 894 | c.109 others(913): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1337418 | G | GGATGATG others(887): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0040 | 1 | 40 | 0.0250 | 894 | c.106 others(913): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1337418 | G | GGATGATG others(887): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0005 | a0002c0001t0002g0013a0002c0001t0005g0028 | 2 | 40 | 0.0500 | 894 | c.106 others(913): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(887): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 418 | 0.0024 | 894 | c.119 others(913): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(887): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 418 | 0.0024 | 894 | c.119 others(913): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FKBP2_chr11_64236095_64249132 | 64237126 | G | GAGGGAGA others(887): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 894 | c.-40 others(905): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3968 | chr11 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132243180 | C | CACACACA others(887): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0036 | 1 | 183 | 0.0055 | 894 | c.107 others(913): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 321751 | C | CAAAAAAA others(887): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0080 | 1 | 155 | 0.0065 | 894 | c.-29 others(905): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2956 | chrX | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(887): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 274 | 0.0037 | 894 | c.804 others(911): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(887): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 312 | 0.0032 | 894 | c.-41 others(909): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(887): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 114 | 0.0088 | 894 | c.56- others(911): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(887): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 284 | 0.0035 | 894 | c.126 others(911): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar |