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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(935): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0022 | a0022c0027 | a0022c0027t0001 | a0022c0027t0001g0216 | 1 | 398 | 0.0025 | 942 | c.666 others(957): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132895941 | C | CCACATGA others(935): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0008 | a0008c0097 | a0008c0097t0001 | a0008c0097t0001g0118 | 1 | 246 | 0.0041 | 942 | c.321 others(961): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(935): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0016 | 1 | 236 | 0.0042 | 942 | c.342 others(963): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(935): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0136a0002c0002t0003g0083 | 2 | 236 | 0.0085 | 942 | c.342 others(961): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATGGA others(935): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052a0001c0001t0003g0053 | 2 | 236 | 0.0085 | 942 | c.342 others(961): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(935): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 320 | 0.0031 | 942 | c.380 others(959): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(935): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0166 | 1 | 264 | 0.0038 | 942 | c.181 others(961): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(935): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0077 | 1 | 344 | 0.0029 | 942 | c.85- others(959): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(935): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0032 | 1 | 148 | 0.0068 | 942 | c.183 others(961): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(935): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 NA19030.hp1 |
a0001a0030 | a0001c0001a0030c0033 | a0001c0001t0001a0030c0033t0001 | a0001c0001t0001g0088a0030c0033t0001g0089 | 2 | 320 | 0.0063 | 942 | c.*39 others(953): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(935): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 320 | 0.0031 | 942 | c.*39 others(953): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(935): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 HG03516.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0002c0015t0001 | a0001c0001t0001g0079a0002c0015t0001g0156a0002c0015t0001g0159 | 3 | 320 | 0.0094 | 942 | c.*39 others(953): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252869 | C | CCACCATC others(935): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0070 | a0002c0003t0070g0225 | 1 | 366 | 0.0027 | 942 | c.666 others(959): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(935): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03225.hp2 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0001a0002c0006t0002g0106 | 2 | 314 | 0.0064 | 942 | c.310 others(957): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218221 | C | CCACACCC others(935): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0009 | 1 | 106 | 0.0094 | 942 | c.*27 others(953): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1052 | chr8 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(935): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 408 | 0.0025 | 942 | c.633 others(957): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399442 | T | TCACCACC others(935): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 314 | 0.0032 | 942 | c.-25 others(959): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(935): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01255.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0104a0001c0001t0164a0001c0001t0223 | a0001c0001t0104g0170a0001c0001t0164g0168a0001c0001t0223g0177 | 3 | 276 | 0.0109 | 942 | c.*65 others(953): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739140 | C | CCATCCAC others(935): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0297 | 1 | 380 | 0.0026 | 942 | c.507 others(959): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 923003 | G | GTTGGTGT others(935): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01258.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0010a0001c0033 | a0001c0010t0001a0001c0033t0001 | a0001c0010t0001g0271a0001c0010t0001g0272a0001c0010t0001g0276others(1): Show | 4 | 294 | 0.0136 | 942 | c.514 others(961): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(935): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0008 | a0008c0018 | a0008c0018t0006 | a0008c0018t0006g0014 | 1 | 56 | 0.0179 | 942 | c.209 others(957): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(935): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0258 | 1 | 330 | 0.0030 | 942 | c.-5+ others(957): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(935): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0259 | 1 | 330 | 0.0030 | 942 | c.-5+ others(957): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(935): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp2 |
a0014a0019 | a0014c0033a0019c0039 | a0014c0033t0003a0019c0039t0001 | a0014c0033t0003g0258a0019c0039t0001g0259 | 2 | 324 | 0.0062 | 942 | c.140 others(959): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(935): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 942 | c.*31 others(953): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(935): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 942 | c.*31 others(953): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(935): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 308 | 0.0033 | 942 | c.371 others(959): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(935): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 220 | 0.0046 | 942 | c.24+ others(959): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803080 | G | GGGGGCCC others(935): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0145 | 1 | 330 | 0.0030 | 942 | c.-51 others(953): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4867 | chr9 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803080 | G | GGGGGCCC others(935): Show |
upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0266 | 1 | 330 | 0.0030 | 942 | c.-51 others(953): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4867 | chr9 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(935): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0013 | 2 | 67 | 0.0299 | 942 | c.159 others(959): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(935): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 160 | 0.0063 | 942 | c.389 others(963): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 315142 | C | CCACTAAC others(935): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0095a0001c0001t0010g0129 | 2 | 133 | 0.0150 | 942 | c.351 others(959): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382277 | A | AGTGATGG others(935): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 NA19009.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 412 | 0.0073 | 942 | c.-48 others(953): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4825 | chr20 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(935): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02486.hp1 HG02615.hp1 others(3): Show |
a0010a0016a0018 | a0010c0015a0016c0018a0018c0017 | a0010c0015t0001a0016c0018t0001a0018c0017t0001 | a0010c0015t0001g0068a0010c0015t0001g0138a0010c0015t0001g0140others(3): Show | 6 | 268 | 0.0224 | 942 | c.266 others(959): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(935): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0010 | a0010c0024 | a0010c0024t0001 | a0010c0024t0001g0139 | 1 | 268 | 0.0037 | 942 | c.266 others(959): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(935): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0099 | 1 | 432 | 0.0023 | 942 | c.199 others(959): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870237 | C | CACCCTAC others(935): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 338 | 0.0030 | 942 | c.*35 others(961): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
WASHC2A_chr10_50062954_50138509 | 50066625 | T | TCTAAGCA others(935): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG02559.hp1 others(2): Show |
a0009a0045a0046 | a0009c0011a0045c0052a0046c0051 | a0009c0011t0001a0045c0052t0001a0046c0051t0001 | a0009c0011t0001g0012a0009c0011t0001g0020a0009c0011t0001g0022others(2): Show | 5 | 310 | 0.0161 | 942 | c.-13 others(953): Show |
WASHC2A | ENSG00000099290.17 | transcript | ENST00000282633.10 | protein_coding | 1328 | chr10 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876192 | C | CCCTTCCC others(935): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 246 | 0.0041 | 942 | c.-10 others(959): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(936): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02970.hp2 |
a0007a0011 | a0007c0043a0011c0056 | a0007c0043t0009a0011c0056t0009 | a0007c0043t0009g0097a0011c0056t0009g0090 | 2 | 248 | 0.0081 | 943 | c.387 others(962): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(936): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0246 | 1 | 248 | 0.0040 | 943 | c.387 others(962): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(936): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0022 | 1 | 228 | 0.0044 | 943 | c.259 others(964): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(936): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0041 | 1 | 182 | 0.0055 | 943 | c.505 others(962): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(936): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0066a0001c0001t0003g0050 | 2 | 182 | 0.0110 | 943 | c.505 others(962): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(936): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18971.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0067a0001c0001t0002g0068a0001c0001t0020g0047 | 3 | 182 | 0.0165 | 943 | c.505 others(962): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(936): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0009 | 1 | 238 | 0.0042 | 943 | c.787 others(958): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251696 | G | GAGGGAGG others(936): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 242 | 0.0041 | 943 | c.927 others(960): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539583 | C | TTTCATAA others(936): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0014 | 1 | 104 | 0.0096 | 943 | c.139 others(964): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | chr12 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(936): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0165 | 1 | 418 | 0.0024 | 943 | c.*51 others(954): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar |