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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(830): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 283 | 0.0035 | 837 | c.115 others(854): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(830): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0155 | 1 | 278 | 0.0036 | 837 | c.101 others(854): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098431 | G | GGCCCCCT others(830): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0019 | a0006c0019t0009 | a0006c0019t0009g0013 | 1 | 84 | 0.0119 | 837 | c.125 others(854): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(830): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0030 | a0030c0027 | a0030c0027t0001 | a0030c0027t0001g0258 | 1 | 94 | 0.0106 | 837 | c.266 others(854): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852655 | G | GATCCCAT others(830): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0264 | 1 | 296 | 0.0034 | 837 | c.646 others(854): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(830): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0089 | 1 | 58 | 0.0172 | 837 | c.143 others(858): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(830): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0056 | 1 | 34 | 0.0294 | 837 | c.497 others(858): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(830): Show |
intron_variant | MODIFIER | NA18967.hp1 NA18975.hp1 NA19055.hp1 |
a0002a0012 | a0002c0024a0012c0036 | a0002c0024t0002a0012c0036t0001 | a0002c0024t0002g0137 a0002c0024t0002g0139 a0012c0036t0001g0021 |
3 | 249 | 0.0120 | 837 | c.141 others(856): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(830): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 9 | 0.1111 | 837 | c.917 others(856): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(830): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 9 | 0.1111 | 837 | c.917 others(856): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TATATTTA others(831): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0014 | a0003c0014t0005 | a0003c0014t0005g0196 | 1 | 153 | 0.0065 | 838 | c.130 others(857): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TATATTTA others(831): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0014 | a0003c0014t0005 | a0003c0014t0005g0198 | 1 | 153 | 0.0065 | 838 | c.130 others(857): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TATATTTA others(831): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0050 | a0003c0050t0009 | a0003c0050t0009g0104 | 1 | 153 | 0.0065 | 838 | c.130 others(857): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(831): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18906.hp1 |
a0001a0002 | a0001c0025a0002c0004 | a0001c0025t0002a0002c0004t0002 | a0001c0025t0002g0075 a0002c0004t0002g0050 |
2 | 13 | 0.1538 | 838 | c.387 others(857): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(831): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0233 | 1 | 12 | 0.0833 | 838 | c.387 others(857): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289615 | T | TCCCCCGT others(831): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 249 | 0.0040 | 838 | c.*39 others(849): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2775 | chr1 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477306 | A | ACCCCCAC others(831): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0003 | a0003c0015 | a0003c0015t0002 | a0003c0015t0002g0069 | 1 | 331 | 0.0030 | 838 | c.147 others(855): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111221356 | T | TATATATC others(831): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0165 | 1 | 148 | 0.0068 | 838 | c.670 others(855): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(831): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0261 | 1 | 27 | 0.0370 | 838 | c.94+ others(853): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72692693 | T | TAAGAGAT others(831): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0054 | 1 | 396 | 0.0025 | 838 | c.25- others(853): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BCCIP_chr10_125818546_125841551 | 125824766 | G | GCCTCTGC others(831): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 a0001c0001t0002g0163 a0001c0001t0002g0164 others(3): Show |
7 | 318 | 0.0220 | 838 | c.166 others(855): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(831): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01258.hp1 HG02004.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0013 |
4 | 11 | 0.3636 | 838 | c.-70 others(847): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241570995 | G | GGGGGGTG others(831): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0175 | 1 | 271 | 0.0037 | 838 | c.513 others(853): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279069 | A | AGGGAGGG others(831): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 274 | 0.0036 | 838 | c.465 others(853): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(831): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 103 | 0.0097 | 838 | c.300 others(855): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(831): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 38 | 0.0263 | 838 | c.248 others(855): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(831): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0236 | 1 | 38 | 0.0263 | 838 | c.248 others(855): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(831): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 | 1 | 38 | 0.0263 | 838 | c.248 others(855): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(831): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 38 | 0.0263 | 838 | c.248 others(855): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(831): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0202 | 1 | 38 | 0.0263 | 838 | c.248 others(855): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(831): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0248 | 1 | 38 | 0.0263 | 838 | c.248 others(855): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(831): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0009 | 1 | 4 | 0.2500 | 838 | c.342 others(857): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(831): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 4 | 0.2500 | 838 | c.342 others(857): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(831): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02451.hp2 HG03453.hp2 |
a0001a0002a0007 | a0001c0001a0002c0004a0007c0010 | a0001c0001t0003a0002c0004t0003a0007c0010t0003 | a0001c0001t0003g0060 a0002c0004t0003g0207 a0007c0010t0003g0130 |
3 | 6 | 0.5000 | 838 | c.342 others(857): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(831): Show |
intron_variant | MODIFIER | HG00639.hp2 NA19003.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0174 a0002c0004t0001g0025 |
2 | 5 | 0.4000 | 838 | c.342 others(857): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(831): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG02109.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0002g0198 a0001c0001t0003g0095 a0002c0002t0002g0002 others(1): Show |
4 | 7 | 0.5714 | 838 | c.342 others(857): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(831): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 2 | 0.5000 | 838 | c.-51 others(849): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323393 | C | CGGGGCTC others(831): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0007 | 1 | 85 | 0.0118 | 838 | c.392 others(857): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619512 | T | TCCCTGCC others(831): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 183 | 0.0055 | 838 | c.-10 others(857): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(831): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0103 |
2 | 13 | 0.1538 | 838 | c.617 others(855): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(831): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 12 | 0.0833 | 838 | c.617 others(855): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(831): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0138 | 1 | 2 | 0.5000 | 838 | c.123 others(859): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551561 | G | GGAGGGGA others(831): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0017 | 1 | 44 | 0.0227 | 838 | c.-17 others(857): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(831): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 6 | 0.1667 | 838 | c.-17 others(857): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0123 a0001c0003t0006g0124 a0001c0003t0006g0125 others(2): Show |
5 | 164 | 0.0305 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01081.hp2 others(28): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0038 | a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0144 others(28): Show |
31 | 190 | 0.1632 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0016 | a0001c0016t0037 | a0001c0016t0037g0171 | 1 | 160 | 0.0063 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03710.hp2 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0026 | a0001c0003t0006g0128 a0001c0003t0026g0129 |
2 | 161 | 0.0124 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02615.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 others(4): Show |
7 | 166 | 0.0422 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 |
3 | 162 | 0.0185 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |