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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1641): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 | 1 | 292 | 0.0034 | 1648 | c.268 others(1667): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 115619091 | T | TGTCTCTC others(1641): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 56 | 0.0179 | 1648 | c.442 others(1667): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322793 | A | ACGGAATA others(1641): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0209 | 1 | 323 | 0.0031 | 1648 | c.-22 others(1659): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2176 | chr21 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133769 | C | CTCTTCCT others(1641): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 227 | 0.0044 | 1648 | c.*23 others(1659): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2057 | chr19 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1641): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0044 | 1 | 334 | 0.0030 | 1648 | c.45- others(1663): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1641): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0001 | a0002c0001t0015 | a0002c0001t0015g0062 | 1 | 134 | 0.0075 | 1648 | c.-28 others(1667): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1641): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00621.hp1 others(3): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0134 a0001c0002t0001g0145 a0001c0005t0001g0135 others(3): Show |
6 | 203 | 0.0296 | 1648 | c.167 others(1663): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828722 | A | AGGAGGGA others(1641): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0071 | 1 | 94 | 0.0106 | 1648 | c.79+ others(1665): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870151 | C | CCACACAC others(1641): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 338 | 0.0030 | 1648 | c.*35 others(1667): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431622 | C | CGGGTATC others(1642): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0097 | 1 | 286 | 0.0035 | 1649 | c.539 others(1662): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4885540 | A | AAAAATAC others(1642): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 412 | 0.0024 | 1649 | c.*55 others(1660): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4896 | chr19 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1642): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213 | 1 | 298 | 0.0034 | 1649 | c.955 others(1666): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374953 | A | AGGGAGGA others(1642): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 184 | 0.0054 | 1649 | c.784 others(1664): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1642): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0136 | 1 | 240 | 0.0042 | 1649 | c.*31 others(1660): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 312236 | G | GTGCCAGT others(1642): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0028 | 1 | 155 | 0.0065 | 1649 | c.916 others(1664): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777750 | C | CCATGCCT others(1642): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0099 | a0099c0145 | a0099c0145t0008 | a0099c0145t0008g0055 | 1 | 249 | 0.0040 | 1649 | c.129 others(1668): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089406 | T | TTAATGTT others(1642): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 304 | 0.0033 | 1649 | c.347 others(1664): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1642): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02071.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0003g0312 |
3 | 322 | 0.0093 | 1649 | c.-93 others(1666): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1642): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 322 | 0.0031 | 1649 | c.-93 others(1666): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1159250 | G | GGGAGAAG others(1643): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0136 | 1 | 337 | 0.0030 | 1650 | c.61+ others(1667): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4885540 | A | AAAAATAC others(1643): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 HG01934.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0047 a0001c0001t0002g0064 |
3 | 412 | 0.0073 | 1650 | c.*55 others(1661): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4896 | chr19 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1643): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0204 | 1 | 210 | 0.0048 | 1650 | c.273 others(1667): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1643): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0148 | 1 | 298 | 0.0034 | 1650 | c.955 others(1667): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(1643): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0225 | 1 | 298 | 0.0034 | 1650 | c.955 others(1667): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099706 | A | AGAGAGAG others(1643): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 | 1 | 326 | 0.0031 | 1650 | c.-13 others(1669): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914424 | C | CCCCGAGG others(1643): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0050 | a0050c0074 | a0050c0074t0002 | a0050c0074t0002g0003 | 1 | 246 | 0.0041 | 1650 | c.212 others(1669): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1643): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 316 | 0.0032 | 1650 | c.44- others(1663): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1164097 | C | CAGATTTT others(1643): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0010 | a0002c0010t0008 | a0002c0010t0008g0040 | 1 | 40 | 0.0250 | 1650 | c.74- others(1667): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329209 | T | TACACAGG others(1643): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0039 | 1 | 82 | 0.0122 | 1650 | c.199 others(1669): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(1643): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 272 | 0.0037 | 1650 | c.238 others(1671): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824128 | C | CCCGCGGT others(1643): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 143 | 0.0070 | 1650 | c.147 others(1667): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824128 | C | CCCGCGGT others(1643): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 143 | 0.0070 | 1650 | c.147 others(1667): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(1643): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 292 | 0.0034 | 1650 | c.718 others(1667): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925026 | G | GGGAACAG others(1643): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 292 | 0.0034 | 1650 | c.718 others(1667): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1643): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0067 | 1 | 134 | 0.0075 | 1650 | c.-28 others(1669): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(1643): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 2 | 420 | 0.0048 | 1650 | c.*32 others(1661): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1643): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 338 | 0.0030 | 1650 | c.*35 others(1669): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411203 | C | CCGAGCCG others(1644): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0005 | a0003c0005t0073 | a0003c0005t0073g0184 | 1 | 322 | 0.0031 | 1651 | c.-22 others(1662): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2057 | chr19 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1644): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 240 | 0.0042 | 1651 | c.*31 others(1662): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1644): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 148 | 0.0068 | 1651 | c.183 others(1670): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1644): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 148 | 0.0068 | 1651 | c.183 others(1670): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 140911 | T | TGGGTGGG others(1644): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0267 | 1 | 339 | 0.0030 | 1651 | c.*65 others(1662): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 1877 | chr17 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619312 | C | CTGCTCCC others(1644): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 250 | 0.0040 | 1651 | c.-10 others(1670): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1644): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0161 | 1 | 203 | 0.0049 | 1651 | c.167 others(1666): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 140911 | T | TGGGTGGG others(1644): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 402 | 0.0025 | 1651 | c.*19 others(1662): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1845 | chr17 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(1644): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0078 | 1 | 156 | 0.0064 | 1651 | c.176 others(1668): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913714 | G | GTGTGTGT others(1644): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 420 | 0.0024 | 1651 | c.*30 others(1662): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2029 | chr9 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958136 | A | AACCATCA others(1645): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0191 | 1 | 230 | 0.0044 | 1652 | c.724 others(1671): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322961 | C | CACATATT others(1645): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0051 | 1 | 242 | 0.0041 | 1652 | c.174 others(1671): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1645): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 HG02129.hp2 HG02523.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0020a0001c0002t0066 | a0001c0001t0014g0198 a0001c0001t0020g0273 a0001c0002t0066g0078 |
3 | 302 | 0.0099 | 1652 | c.*39 others(1663): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar |