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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A3_chr5_1387794_1450440 | 1414475 | T | TGGGGGGC others(1212): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 373 | 0.0027 | 1219 | c.115 others(1236): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158701175 | G | GGTGAGCT others(1212): Show |
intron_variant | MODIFIER | HG03688.hp2 HG04204.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0018a0003c0004t0001g0208 | 2 | 292 | 0.0069 | 1219 | c.395 others(1236): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620747 | A | ACCATCCC others(1212): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0199 | 1 | 258 | 0.0039 | 1219 | c.113 others(1238): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGATCAC others(1212): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 392 | 0.0026 | 1219 | c.228 others(1238): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771800 | G | GAAGGGAG others(1212): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0109 | 1 | 272 | 0.0037 | 1219 | c.389 others(1238): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | chr8 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1213): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0291 | 1 | 337 | 0.0030 | 1220 | c.179 others(1241): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1213): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 334 | 0.0030 | 1220 | c.147 others(1237): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1213): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024a0001c0002t0001g0133 | 2 | 210 | 0.0095 | 1220 | c.273 others(1237): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1213): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 298 | 0.0034 | 1220 | c.955 others(1237): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(1213): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | 320 | 0.0063 | 1220 | c.937 others(1235): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88713210 | T | TGAGAGCC others(1213): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0015 | a0015c0026 | a0015c0026t0001 | a0015c0026t0001g0058 | 1 | 418 | 0.0024 | 1220 | c.738 others(1233): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1213): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG01928.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061a0002c0002t0001g0062a0002c0002t0001g0075 | 3 | 396 | 0.0076 | 1220 | c.218 others(1237): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1213): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 396 | 0.0025 | 1220 | c.218 others(1237): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1213): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 396 | 0.0025 | 1220 | c.218 others(1237): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1213): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18966.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319a0001c0001t0001g0320a0001c0001t0001g0321 | 3 | 396 | 0.0076 | 1220 | c.218 others(1237): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1213): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01167.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030a0002c0002t0001g0031a0002c0002t0001g0040others(5): Show | 8 | 396 | 0.0202 | 1220 | c.218 others(1237): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1213): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 396 | 0.0025 | 1220 | c.218 others(1237): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878183 | G | GTATATAA others(1213): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 208 | 0.0048 | 1220 | c.192 others(1239): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1213): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0086 | 1 | 230 | 0.0044 | 1220 | c.724 others(1239): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGGAG others(1213): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0068 | 1 | 88 | 0.0114 | 1220 | c.158 others(1237): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 748022 | G | GCCTGCGG others(1213): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0010 | a0001c0010t0025 | a0001c0010t0025g0012 | 1 | 40 | 0.0250 | 1220 | c.18+ others(1237): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1213): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 NA19043.hp1 |
a0014a0042 | a0014c0103a0042c0115 | a0014c0103t0001a0042c0115t0003 | a0014c0103t0001g0246a0042c0115t0003g0300 | 2 | 316 | 0.0063 | 1220 | c.*49 others(1231): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1213): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0054 | a0002c0054t0004 | a0002c0054t0004g0194 | 1 | 316 | 0.0032 | 1220 | c.*49 others(1231): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1213): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0020 | 1 | 316 | 0.0032 | 1220 | c.*49 others(1231): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1213): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0009 | a0009c0124 | a0009c0124t0001 | a0009c0124t0001g0084 | 1 | 316 | 0.0032 | 1220 | c.*49 others(1231): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 321408 | C | TCAGAGAT others(1213): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0023 | 1 | 256 | 0.0039 | 1220 | c.828 others(1237): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | chr9 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30071290 | T | TTATGTAG others(1213): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 248 | 0.0040 | 1220 | c.273 others(1239): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30071290 | T | TTATGTAG others(1213): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 248 | 0.0040 | 1220 | c.273 others(1239): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30071290 | T | TTATGTAG others(1213): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00639.hp2 others(32): Show |
a0001a0011 | a0001c0001a0011c0022 | a0001c0001t0001a0011c0022t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(32): Show | 35 | 248 | 0.1411 | 1220 | c.273 others(1239): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30071290 | T | TTATGTAG others(1213): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0181 | 1 | 248 | 0.0040 | 1220 | c.273 others(1239): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315642 | C | CCCCATAC others(1213): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 250 | 0.0040 | 1220 | c.259 others(1239): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896582 | G | GGTGTTGG others(1213): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 37 | 0.0270 | 1220 | c.161 others(1235): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1213): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02809.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0001g0191others(1): Show | 5 | 418 | 0.0120 | 1220 | c.119 others(1239): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323158 | A | ATGGAATA others(1213): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0211 | 1 | 323 | 0.0031 | 1220 | c.-18 others(1231): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1811 | chr21 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1213): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0084 | a0001c0001t0047g0150a0001c0001t0084g0208 | 2 | 276 | 0.0073 | 1220 | c.*65 others(1231): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1213): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19043.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0008a0003c0007t0008 | a0001c0001t0008g0025a0003c0007t0008g0025 | 2 | 388 | 0.0052 | 1220 | c.-38 others(1239): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1213): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 388 | 0.0026 | 1220 | c.-38 others(1239): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1213): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0019 | a0019c0025 | a0019c0025t0001 | a0019c0025t0001g0310 | 1 | 388 | 0.0026 | 1220 | c.-38 others(1239): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MRPL28_chr16_361969_375538 | 370285 | C | CCCTACCC others(1213): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0005 | a0005c0007 | a0005c0007t0011 | a0005c0007t0011g0198 | 1 | 394 | 0.0025 | 1220 | c.-7- others(1231): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952367 | G | GGGGGGGG others(1213): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 242 | 0.0041 | 1220 | c.360 others(1239): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1213): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01943.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0187a0001c0001t0001g0192a0001c0001t0001g0328others(17): Show | 21 | 360 | 0.0583 | 1220 | c.456 others(1235): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1213): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0036 | 1 | 360 | 0.0028 | 1220 | c.456 others(1235): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811204 | T | TTCCCTCC others(1213): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 178 | 0.0056 | 1220 | c.773 others(1235): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PGAP6_chr16_365788_386978 | 370285 | C | CCCTACCC others(1213): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0030 | a0001c0030t0003 | a0001c0030t0003g0113 | 1 | 376 | 0.0027 | 1220 | c.*17 others(1231): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 502 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1213): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 376 | 0.0027 | 1220 | c.*15 others(1231): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88713210 | T | TGAGAGCC others(1213): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0078 | a0078c0114 | a0078c0114t0001 | a0078c0114t0001g0233 | 1 | 282 | 0.0036 | 1220 | c.*23 others(1231): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2127 | chr16 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100902 | T | TAATCCAT others(1213): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18979.hp1 |
a0012 | a0012c0013 | a0012c0013t0009 | a0012c0013t0009g0016a0012c0013t0009g0019 | 2 | 210 | 0.0095 | 1220 | c.45+ others(1235): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1213): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0091 | 1 | 188 | 0.0053 | 1220 | c.147 others(1237): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005545 | C | CATCACCA others(1213): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0075 | 1 | 436 | 0.0023 | 1220 | c.*11 others(1239): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 410763 | G | GTCCTGGG others(1214): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0027 | 1 | 322 | 0.0031 | 1221 | c.-17 others(1232): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1617 | chr19 | TogoVar |