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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(1034): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0171 | 1 | 325 | 0.0031 | 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 | a0001c0001t0003g0181 a0001c0001t0003g0182 |
2 | 170 | 0.0118 | 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 | a0004c0013a0005c0008 | a0004c0013t0002a0005c0008t0002 | a0004c0013t0002g0047 a0005c0008t0002g0166 |
2 | 178 | 0.0112 | 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 | a0001 | a0001c0097 | a0001c0097t0002 | a0001c0097t0002g0085 | 1 | 8 | 0.1250 | 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 | a0001c0003t0001g0157 | 1 | 171 | 0.0058 | 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 | a0016 | a0016c0117 | a0016c0117t0001 | a0016c0117t0001g0034 | 1 | 98 | 0.0102 | 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 | a0001c0001t0002g0168 | 1 | 246 | 0.0041 | 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 | 73 | 0.0137 | 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 | 176 | 0.0057 | 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 | a0001c0001t0003g0228 | 1 | 176 | 0.0057 | 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 | a0001c0001t0001g0107 | 1 | 121 | 0.0083 | 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 | a0001c0001t0101 | a0001c0001t0101g0145 | 1 | 124 | 0.0081 | 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 | a0001c0001t0002g0167 | 1 | 125 | 0.0080 | 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 | a0001c0001t0002g0019 | 1 | 125 | 0.0080 | 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 | a0001c0001t0002g0178 | 1 | 125 | 0.0080 | 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 | a0001c0001t0002g0019 | 1 | 278 | 0.0036 | 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 | 159 | 0.0063 | 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 | a0001c0001t0002g0120 | 1 | 362 | 0.0028 | 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 | 119 | 0.0084 | 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 | a0001c0048t0007g0020 a0001c0049t0006g0021 |
2 | 154 | 0.0130 | 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 | a0001c0001t0001g0140 | 1 | 153 | 0.0065 | 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 | a0001c0002t0005g0135 | 1 | 201 | 0.0050 | 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 | a0001c0002t0007g0248 | 1 | 201 | 0.0050 | 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 | 12 | 0.0833 | 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 | a0001c0001t0001g0231 | 1 | 318 | 0.0031 | 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 | a0001c0001t0015g0266 | 1 | 317 | 0.0032 | 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 | 217 | 0.0046 | 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 | a0001c0002t0078 | a0001c0002t0078g0004 | 1 | 342 | 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 | a0001c0002t0002g0216 | 1 | 8 | 0.1250 | 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 | a0001c0002t0002g0218 | 1 | 8 | 0.1250 | 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 | a0002c0003t0001g0240 | 1 | 8 | 0.1250 | 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 | a0001c0003t0003g0243 | 1 | 10 | 0.1000 | 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 | a0001c0003t0003g0224 a0001c0003t0003g0235 a0001c0003t0003g0236 others(6): Show |
9 | 18 | 0.5000 | 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 |
a0001a0009 | a0001c0003a0009c0010 | a0001c0003t0003a0009c0010t0003 | a0001c0003t0003g0245 a0001c0003t0003g0247 a0009c0010t0003g0234 |
3 | 12 | 0.2500 | 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 | a0001c0002t0001g0012 | 1 | 10 | 0.1000 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0102 |
5 | 204 | 0.0245 | 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 | a0001c0001t0016g0051 | 1 | 373 | 0.0027 | 1042 | c.332 others(1057): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(1035): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0230 | 1 | 373 | 0.0027 | 1042 | c.332 others(1057): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DUS3L_chr19_5780140_5796163 | 5787204 | G | GGTGGGAG others(1035): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0001a0001c0018t0001 | a0001c0002t0001g0006 a0001c0018t0001g0070 |
9 | 172 | 0.0523 | 1042 | c.127 others(1057): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1035): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 73 | 0.0137 | 1042 | c.162 others(1061): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1035): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 176 | 0.0057 | 1042 | c.162 others(1061): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1035): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0140 | 1 | 176 | 0.0057 | 1042 | c.162 others(1061): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1035): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0235 | 1 | 229 | 0.0044 | 1042 | c.228 others(1059): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1035): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 | 1 | 289 | 0.0035 | 1042 | c.-49 others(1053): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1035): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0033 | a0003c0033t0001 | a0003c0033t0001g0091 | 1 | 143 | 0.0070 | 1042 | c.488 others(1057): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1035): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0092 | 1 | 46 | 0.0217 | 1042 | c.487 others(1057): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
MGRN1_chr16_4619826_4695972 | 4648756 | C | CGGCTCCT others(1035): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0029 | a0001c0004t0029g0083 | 1 | 332 | 0.0030 | 1042 | c.89- others(1057): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050087 | C | CGCCTGTC others(1035): Show |
upstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 399 | 0.0025 | 1042 | c.-40 others(1053): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3911 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 810293 | C | CGTTAAGA others(1035): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 239 | 0.0042 | 1042 | c.821 others(1059): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACAC others(1035): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0126 | 1 | 136 | 0.0074 | 1042 | c.127 others(1059): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar |