| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1033): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 1040 | c.*31 others(1051): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
| ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(1033): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0242 | 1 | 366 | 0.0027 | 1040 | c.*27 others(1051): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560564 | C | CTCACTGT others(1033): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0045 | 1 | 180 | 0.0056 | 1040 | c.637 others(1059): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168561820 | G | GTTCTTGG others(1033): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 180 | 0.0056 | 1040 | c.637 others(1059): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| TMEM120B_chr12_121707752_121787068 | 121747471 | G | GCTGGGGT others(1033): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0228 | 1 | 314 | 0.0032 | 1040 | c.189 others(1055): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM120B_chr12_121707752_121787068 | 121747505 | C | TGGGAGGC others(1033): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0227 | 1 | 314 | 0.0032 | 1040 | c.189 others(1055): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
| U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1033): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 394 | 0.0025 | 1040 | c.129 others(1057): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| UCKL1_chr20_63934829_63961416 | 63948633 | A | AGGGGATG others(1033): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 356 | 0.0028 | 1040 | c.114 others(1057): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1033): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 167 | 0.0060 | 1040 | c.*53 others(1051): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
| ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1034): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0126 | 1 | 262 | 0.0038 | 1041 | c.106 others(1060): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1034): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0219 | 1 | 318 | 0.0031 | 1041 | c.285 others(1060): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ASAP1_chr8_130047104_130448674 | 130049842 | T | TACATGGG others(1034): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0301 | 1 | 308 | 0.0033 | 1041 | c.*48 others(1052): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2261 | chr8 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1034): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0148 | 1 | 210 | 0.0048 | 1041 | c.273 others(1058): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
| C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(1034): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0171 | 1 | 354 | 0.0028 | 1041 | c.-22 others(1058): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CENPM_chr22_41933737_41952152 | 41939818 | A | AAGAAAGA others(1034): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181a0001c0001t0003g0182 | 2 | 258 | 0.0078 | 1041 | c.403 others(1056): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1034): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18522.hp2 |
a0004a0005 | a0004c0008a0005c0013 | a0004c0008t0002a0005c0013t0002 | a0004c0008t0002g0166a0005c0013t0002g0047 | 2 | 236 | 0.0085 | 1041 | c.342 others(1062): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1034): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0055 | a0055c0097 | a0055c0097t0002 | a0055c0097t0002g0085 | 1 | 278 | 0.0036 | 1041 | c.328 others(1058): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGAAGG others(1034): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0159 | 1 | 344 | 0.0029 | 1041 | c.85- others(1058): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1034): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0048 | a0048c0117 | a0048c0117t0001 | a0048c0117t0001g0034 | 1 | 252 | 0.0040 | 1041 | c.118 others(1060): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89635136 | T | TCCCTTCC others(1034): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 250 | 0.0040 | 1041 | c.105 others(1056): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1034): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0160 | 1 | 290 | 0.0035 | 1041 | c.162 others(1060): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
| DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1034): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 290 | 0.0035 | 1041 | c.162 others(1060): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
| DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1034): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 290 | 0.0035 | 1041 | c.162 others(1060): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113841791 | G | GTTTCCTC others(1034): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 143 | 0.0070 | 1041 | c.344 others(1058): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | ||||||
| ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1034): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0187 | a0001c0001t0187g0198 | 1 | 276 | 0.0036 | 1041 | c.*65 others(1052): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1034): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 318 | 0.0031 | 1041 | c.-49 others(1052): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1034): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 318 | 0.0031 | 1041 | c.-49 others(1052): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1034): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 318 | 0.0031 | 1041 | c.-49 others(1052): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAC others(1034): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 439 | 0.0023 | 1041 | c.-15 others(1052): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2124029 | C | CTGTAGTT others(1034): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0273 | 1 | 286 | 0.0035 | 1041 | c.335 others(1060): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930835 | G | GTTAGGGA others(1034): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 466 | 0.0022 | 1041 | c.*47 others(1052): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4534 | chr11 | TogoVar | ||||||
| VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1034): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 274 | 0.0037 | 1041 | c.*51 others(1052): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1035): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0001 | a0001c0048a0001c0049 | a0001c0048t0007a0001c0049t0006 | a0001c0048t0007g0017a0001c0049t0006g0018 | 2 | 306 | 0.0065 | 1042 | c.130 others(1061): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1035): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 306 | 0.0033 | 1042 | c.130 others(1061): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1035): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0162 | 1 | 306 | 0.0033 | 1042 | c.130 others(1061): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1035): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0249 | 1 | 306 | 0.0033 | 1042 | c.130 others(1061): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1035): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0008 | a0008c0032 | a0008c0032t0001 | a0008c0032t0001g0004 | 1 | 248 | 0.0040 | 1042 | c.387 others(1061): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173269 | A | ACATCACC others(1035): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 337 | 0.0030 | 1042 | c.61+ others(1057): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173311 | C | CCACACAT others(1035): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0265 | 1 | 337 | 0.0030 | 1042 | c.61+ others(1057): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ADAMTS17_chr15_99966437_100346975 | 100162442 | A | ATTATGTG others(1035): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0075 | 1 | 228 | 0.0044 | 1042 | c.118 others(1061): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
| ADARB1_chr21_45069580_45231560 | 45224502 | A | AGCTGTGG others(1035): Show |
3_prime_UTR_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0079 | a0001c0002t0079g0004 | 1 | 350 | 0.0029 | 1042 | c.*23 others(1053): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2314 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
| ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1035): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0220 | 1 | 318 | 0.0031 | 1042 | c.285 others(1061): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1035): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0222 | 1 | 318 | 0.0031 | 1042 | c.285 others(1061): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1035): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0254 | 1 | 318 | 0.0031 | 1042 | c.285 others(1061): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAACG others(1035): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0245 | 1 | 326 | 0.0031 | 1042 | c.327 others(1059): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAACG others(1035): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02602.hp2 HG03669.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0226a0001c0003t0003g0237a0001c0003t0003g0238others(6): Show | 9 | 326 | 0.0276 | 1042 | c.327 others(1059): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAACG others(1035): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18963.hp1 NA19065.hp2 |
a0001a0008 | a0001c0003a0008c0010 | a0001c0003t0003a0008c0010t0003 | a0001c0003t0003g0247a0001c0003t0003g0249a0008c0010t0003g0236 | 3 | 326 | 0.0092 | 1042 | c.327 others(1059): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1035): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 326 | 0.0031 | 1042 | c.327 others(1059): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| CYLC1_chrX_83856146_83891698 | 83878047 | T | TATAAATA others(1035): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0102a0001c0001t0001g0105 | 5 | 208 | 0.0240 | 1042 | c.192 others(1061): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(1035): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0042 | 1 | 404 | 0.0025 | 1042 | c.332 others(1057): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |