view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TP53AIP1_chr11_128930370_128947871 | 128930739 | G | GCTGGGGT others(1049): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 455 | 0.0022 | 1056 | c.*48 others(1067): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4630 | chr11 | TogoVar | |||||||
TRIP13_chr5_887884_923120 | 898929 | T | TCAGTCAG others(1049): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 371 | 0.0027 | 1056 | c.389 others(1073): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1050): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 30 | 0.0333 | 1057 | c.505 others(1076): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(1050): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01255.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 a0001c0001t0005g0078 a0001c0001t0005g0093 |
3 | 59 | 0.0508 | 1057 | c.62+ others(1070): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1050): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 3 | 0.3333 | 1057 | c.787 others(1072): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1050): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 3 | 0.3333 | 1057 | c.787 others(1072): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1050): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 1057 | c.*36 others(1068): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
C1RL_chr12_7089554_7114214 | 7113491 | T | TCCTGAAA others(1050): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0076 | 1 | 436 | 0.0023 | 1057 | c.-43 others(1068): Show |
C1RL | ENSG00000139178.12 | transcript | ENST00000266542.9 | protein_coding | 4278 | chr12 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6940929 | A | AGGGGGGT others(1050): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 55 | 0.0182 | 1057 | c.234 others(1078): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAAAGAAA others(1050): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 169 | 0.0059 | 1057 | c.403 others(1072): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1050): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0254 | 1 | 8 | 0.1250 | 1057 | c.328 others(1074): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133880 | C | CCTCTCTC others(1050): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0130 | 1 | 221 | 0.0045 | 1057 | c.-41 others(1068): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3881 | chr19 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500731 | G | GGTGGGTG others(1050): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0004 | a0004c0033 | a0004c0033t0001 | a0004c0033t0001g0121 | 1 | 168 | 0.0060 | 1057 | c.268 others(1076): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1050): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0155 | 1 | 98 | 0.0102 | 1057 | c.118 others(1076): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1050): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0104 | a0104c0177 | a0104c0177t0001 | a0104c0177t0001g0245 | 1 | 98 | 0.0102 | 1057 | c.118 others(1076): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947448 | G | GTGGTGGT others(1050): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0052 | a0001c0052t0002 | a0001c0052t0002g0035 | 1 | 75 | 0.0133 | 1057 | c.47- others(1074): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619245 | G | GCCCCCCC others(1050): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 236 | 0.0042 | 1057 | c.-10 others(1076): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72543424 | T | TGAGATAT others(1050): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 99 | 0.0101 | 1057 | c.915 others(1076): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 8/21 | chr2 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1050): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0029 | 1 | 169 | 0.0059 | 1057 | c.119 others(1076): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1050): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 132 | 0.0076 | 1057 | c.94- others(1070): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1050): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 132 | 0.0076 | 1057 | c.94- others(1070): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1050): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0115 |
2 | 133 | 0.0150 | 1057 | c.94- others(1070): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997457 | G | GGGGGGCG others(1050): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 357 | 0.0028 | 1057 | c.-20 others(1068): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 213 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1050): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0111 | 1 | 44 | 0.0227 | 1057 | c.133 others(1076): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1050): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 4 | 0.2500 | 1057 | c.279 others(1072): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949204 | T | TGCCTCCT others(1050): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 205 | 0.0049 | 1057 | c.360 others(1076): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133880 | C | CCTCTCTC others(1050): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 225 | 0.0044 | 1057 | c.*24 others(1068): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2168 | chr19 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1050): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG03486.hp2 |
a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0005 a0005c0010t0003g0184 |
3 | 96 | 0.0313 | 1057 | c.206 others(1076): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280139 | T | TATATATA others(1050): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0120 | 1 | 123 | 0.0081 | 1057 | c.176 others(1074): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1050): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 3 | 0.3333 | 1057 | c.597 others(1074): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1050): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0045 | a0001c0001t0002g0016 a0001c0001t0045g0015 |
2 | 4 | 0.5000 | 1057 | c.597 others(1074): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1050): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 119 | 0.0084 | 1057 | c.*51 others(1068): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1050): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 |
2 | 22 | 0.0909 | 1057 | c.127 others(1074): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675062 | T | TCCTCCTT others(1050): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 118 | 0.0085 | 1057 | c.483 others(1072): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1050): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 100 | 0.0100 | 1057 | c.-10 others(1074): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1051): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0164 | 1 | 153 | 0.0065 | 1058 | c.130 others(1077): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1051): Show |
intron_variant | MODIFIER | HG02922.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0118 a0001c0001t0008g0228 |
2 | 4 | 0.5000 | 1058 | c.787 others(1073): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1051): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 3 | 0.3333 | 1058 | c.787 others(1073): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1051): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 3 | 0.3333 | 1058 | c.787 others(1073): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1051): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 3 | 0.3333 | 1058 | c.787 others(1073): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1051): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 3 | 0.3333 | 1058 | c.787 others(1073): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGGAG others(1051): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 3 | 0.3333 | 1058 | c.787 others(1073): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1051): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0119 | 1 | 72 | 0.0139 | 1058 | c.273 others(1075): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375077 | A | AGGAAGGG others(1051): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018 | 1 | 173 | 0.0058 | 1058 | c.784 others(1073): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1128575 | G | GCCATCTC others(1051): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 279 | 0.0036 | 1058 | c.-1- others(1073): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1051): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0192 | 1 | 8 | 0.1250 | 1058 | c.328 others(1075): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1051): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0220 | 1 | 217 | 0.0046 | 1058 | c.*51 others(1069): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(1051): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0040 | 1 | 78 | 0.0128 | 1058 | c.183 others(1077): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72543424 | T | TGAGATAT others(1051): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 99 | 0.0101 | 1058 | c.915 others(1077): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 8/21 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1051): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127 a0001c0001t0002g0019 |
2 | 125 | 0.0160 | 1058 | c.*65 others(1069): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar |