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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(1065): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03688.hp2 |
a0009a0055 | a0009c0073a0055c0090 | a0009c0073t0012a0055c0090t0001 | a0009c0073t0012g0106 a0055c0090t0001g0240 |
2 | 267 | 0.0075 | 1072 | c.300 others(1089): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1186113 | G | GGGGCCGG others(1065): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 336 | 0.0030 | 1072 | c.300 others(1089): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 209326 | C | CCACACAC others(1065): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0228 | a0001c0002t0228g0273 | 1 | 362 | 0.0028 | 1072 | c.122 others(1089): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1065): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0055 | a0004c0055t0001 | a0004c0055t0001g0038 | 1 | 176 | 0.0057 | 1072 | c.373 others(1089): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065162 | A | ATAGTATT others(1065): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0218 | 1 | 324 | 0.0031 | 1072 | c.-26 others(1083): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2297 | chr11 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929391 | A | ACAGGTCT others(1065): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0044 | a0044c0092 | a0044c0092t0001 | a0044c0092t0001g0037 | 1 | 273 | 0.0037 | 1072 | c.328 others(1089): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133808 | C | CCACCTCC others(1065): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 200 | 0.0050 | 1072 | c.-42 others(1083): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3953 | chr19 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1065): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0214 | 1 | 13 | 0.0769 | 1072 | c.109 others(1091): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1065): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 13 | 0.0769 | 1072 | c.109 others(1091): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1065): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0168 | 1 | 13 | 0.0769 | 1072 | c.109 others(1091): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1065): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0112 | 1 | 13 | 0.0769 | 1072 | c.109 others(1091): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK3_chr19_3953453_3976099 | 3973097 | T | TGCCTGTA others(1065): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 336 | 0.0060 | 1072 | c.-22 others(1083): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 1999 | chr19 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237115 | G | GGGAGAGG others(1065): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 328 | 0.0030 | 1072 | c.*29 others(1083): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2835 | chr11 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3973097 | T | TGCCTGTA others(1065): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 HG03688.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 a0001c0003t0001g0063 |
2 | 379 | 0.0053 | 1072 | c.*34 others(1083): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 2958 | chr19 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(1065): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 248 | 0.0040 | 1072 | c.157 others(1087): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1065): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0059 | 1 | 209 | 0.0048 | 1072 | c.*50 others(1083): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997234 | G | GGGGCGGG others(1065): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0138 | 1 | 362 | 0.0028 | 1072 | c.-22 others(1083): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 436 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859954 | G | GAGTGGTG others(1065): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0092 | 1 | 279 | 0.0036 | 1072 | c.153 others(1091): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AGAAAGGG others(1065): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 229 | 0.0044 | 1072 | c.225 others(1089): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1065): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 102 | 0.0098 | 1072 | c.252 others(1091): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77192915 | G | GGTAGTTG others(1065): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0126 | 1 | 166 | 0.0060 | 1072 | c.415 others(1089): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1065): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18994.hp1 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0003 | a0001c0001t0001g0268 a0002c0010t0003g0235 |
2 | 3 | 0.6667 | 1072 | c.162 others(1091): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75139041 | T | TTCTTTTC others(1065): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0218 | 1 | 360 | 0.0028 | 1072 | c.487 others(1089): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133808 | C | CCACCTCC others(1065): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 204 | 0.0049 | 1072 | c.*23 others(1083): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2096 | chr19 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1065): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0317 | 1 | 100 | 0.0100 | 1072 | c.45- others(1087): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257762 | T | TATGACTA others(1065): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 99 | 0.0101 | 1072 | c.439 others(1091): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249433 | G | GGGAGGGA others(1065): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0208 | 1 | 170 | 0.0059 | 1072 | c.206 others(1091): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(1065): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 219 | 0.0046 | 1072 | c.*73 others(1083): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377496 | T | TCTGTGCC others(1065): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 263 | 0.0038 | 1072 | c.-15 others(1083): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1471 | chr19 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1065): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 103 | 0.0097 | 1072 | c.749 others(1087): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871163 | C | CCACACAC others(1065): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 315 | 0.0032 | 1072 | c.*35 others(1091): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670452 | G | GTGCACCC others(1065): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0181 | 1 | 389 | 0.0026 | 1072 | c.129 others(1089): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917315 | G | GGAGGCTG others(1065): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 335 | 0.0030 | 1072 | c.218 others(1087): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1065): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 100 | 0.0100 | 1072 | c.-10 others(1089): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305199 | A | ACAATCCC others(1066): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0004 | a0004c0034 | a0004c0034t0001 | a0004c0034t0001g0262 | 1 | 330 | 0.0030 | 1073 | c.318 others(1092): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345208 | G | GCGGGGGG others(1066): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0004 | a0004c0003 | a0004c0003t0022 | a0004c0003t0022g0247 | 1 | 263 | 0.0038 | 1073 | c.62+ others(1088): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1066): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052 | 1 | 197 | 0.0051 | 1073 | c.578 others(1086): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1066): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0047 | a0002c0002t0047g0000 | 1 | 10 | 0.1000 | 1073 | c.*10 others(1086): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1066): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0023 | a0002c0002t0008g0000 a0002c0002t0023g0000 |
3 | 12 | 0.2500 | 1073 | c.*10 others(1086): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1066): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 3 | 0.3333 | 1073 | c.787 others(1088): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1066): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 3 | 0.3333 | 1073 | c.787 others(1088): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1066): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01361.hp1 HG02074.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0029 a0001c0002t0001g0030 others(10): Show |
13 | 22 | 0.5909 | 1073 | c.327 others(1090): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1066): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 10 | 0.1000 | 1073 | c.327 others(1090): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411277 | C | CCGGATCC others(1066): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0164 | 1 | 244 | 0.0041 | 1073 | c.-23 others(1084): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2131 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(1066): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0098 | 1 | 108 | 0.0093 | 1073 | c.-23 others(1084): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585318 | G | GTGTTGAG others(1066): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0252 | 1 | 349 | 0.0029 | 1073 | c.-22 others(1090): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(1066): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0067 | 1 | 142 | 0.0070 | 1073 | c.-22 others(1090): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(1066): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 266 | 0.0038 | 1073 | c.300 others(1090): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1066): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 13 | 0.0769 | 1073 | c.109 others(1092): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516624 | A | ACAGGGGG others(1066): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 27 | 0.0370 | 1073 | c.86- others(1090): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar |