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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 | 1 | 428 | 0.0023 | 94 | c.771 others(111): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730109 | A | AAAGAAAA others(87): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 374 | 0.0027 | 94 | c.106 others(113): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730109 | A | AAAGAAAA others(87): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0022 | a0022c0036 | a0022c0036t0001 | a0022c0036t0001g0181 | 1 | 374 | 0.0027 | 94 | c.106 others(113): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730127 | A | AAGAAAGA others(87): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0202 a0003c0003t0001g0263 |
2 | 374 | 0.0054 | 94 | c.106 others(113): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730127 | A | AAGAAAGA others(87): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19080.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 a0002c0002t0001g0071 |
2 | 374 | 0.0054 | 94 | c.106 others(113): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAUS1_chr18_46099385_46133333 | 46113035 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0153 |
3 | 372 | 0.0081 | 94 | c.206 others(111): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45682290 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0003 | a0003c0003t0035 | a0003c0003t0035g0220 | 1 | 226 | 0.0044 | 94 | c.425 others(113): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602222 | C | CCCTCCTC others(87): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0024 | a0001c0024t0004 | a0001c0024t0004g0059 | 1 | 408 | 0.0025 | 94 | c.633 others(111): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602288 | C | CCCTCCTC others(87): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0144 | a0004c0144t0001 | a0004c0144t0001g0119 | 1 | 408 | 0.0025 | 94 | c.633 others(111): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602288 | C | CCCTCCTC others(87): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0023 | 1 | 408 | 0.0025 | 94 | c.633 others(111): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239124589 | C | CGTTATAT others(87): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp1 others(1): Show |
a0001 | a0001c0005a0001c0015 | a0001c0005t0001a0001c0015t0047a0001c0015t0074 | a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0015t0047g0037 others(1): Show |
4 | 242 | 0.0165 | 94 | c.153 others(113): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63833753 | G | GCGCGCAC others(87): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0012 | a0012c0021 | a0012c0021t0005 | a0012c0021t0005g0200 | 1 | 216 | 0.0046 | 94 | c.-27 others(107): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88379687 | A | AATATAAT others(87): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01257.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 others(10): Show |
13 | 174 | 0.0747 | 94 | c.199 others(109): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HGD_chr3_120623172_120687239 | 120624712 | G | GTGTATAT others(87): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0111 | 1 | 374 | 0.0027 | 94 | c.*36 others(105): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3459 | chr3 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948917 | G | GGGGGGAG others(87): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 380 | 0.0026 | 94 | c.-38 others(105): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3626 | chr12 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948917 | G | GGGGGGGA others(87): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 380 | 0.0026 | 94 | c.-38 others(105): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3626 | chr12 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948931 | G | GGGAGGGG others(87): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 380 | 0.0026 | 94 | c.-38 others(105): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3612 | chr12 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948931 | G | GGGGAGGG others(87): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 380 | 0.0026 | 94 | c.-38 others(105): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3612 | chr12 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35389387 | C | CCCTCCCT others(87): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0011 | a0011c0010 | a0011c0010t0011 | a0011c0010t0011g0100 | 1 | 384 | 0.0026 | 94 | c.637 others(109): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTATT others(87): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 394 | 0.0025 | 94 | c.41- others(109): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96800002 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 | 1 | 116 | 0.0086 | 94 | c.708 others(113): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321817 | T | TACATATA others(87): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0030 | a0003c0003t0030g0132 | 1 | 323 | 0.0031 | 94 | c.-32 others(105): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3152 | chr21 | TogoVar | |||||||
IL13RA1_chrX_118722606_118799533 | 118784108 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 280 | 0.0036 | 94 | c.119 others(113): Show |
IL13RA1 | ENSG00000131724.11 | transcript | ENST00000371666.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL13RA1_chrX_118722606_118799533 | 118784108 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 280 | 0.0036 | 94 | c.119 others(113): Show |
IL13RA1 | ENSG00000131724.11 | transcript | ENST00000371666.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29490852 | G | GTATATAT others(87): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0057 a0001c0001t0004g0079 |
2 | 135 | 0.0148 | 94 | c.703 others(113): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1361016 | C | CCTCTGTC others(87): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02074.hp1 HG02135.hp1 others(13): Show |
a0001a0002a0010others(2): Show | a0001c0001a0002c0002a0010c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0035 others(13): Show |
16 | 115 | 0.1391 | 94 | c.759 others(111): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1361064 | T | TCTCTGTC others(87): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0017 a0001c0001t0008g0095 |
2 | 115 | 0.0174 | 94 | c.759 others(111): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1361126 | T | TCCCTTCC others(87): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 115 | 0.0087 | 94 | c.759 others(111): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(87): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0163 a0001c0001t0005g0007 |
2 | 282 | 0.0071 | 94 | c.290 others(113): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142382581 | A | ATATATAC others(87): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0079 | 1 | 90 | 0.0111 | 94 | c.372 others(113): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 7/25 | chr4 | TogoVar | |||||||
INVS_chr9_100094243_100307175 | 100100763 | A | ATTATATG others(87): Show |
intron_variant | MODIFIER | HG02055.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0035 a0001c0001t0008g0034 |
2 | 182 | 0.0110 | 94 | c.-25 others(111): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
INVS_chr9_100094243_100307175 | 100100863 | T | TATATATT others(87): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0182 | 1 | 182 | 0.0055 | 94 | c.-25 others(111): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76699623 | C | CTCTCTCT others(87): Show |
intron_variant | MODIFIER | HG02970.hp2 NA21309.hp2 |
a0009a0025 | a0009c0039a0025c0054 | a0009c0039t0001a0025c0054t0001 | a0009c0039t0001g0127 a0025c0054t0001g0208 |
2 | 222 | 0.0090 | 94 | c.436 others(113): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CAGGGCTC others(87): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0064 | 1 | 282 | 0.0036 | 94 | c.623 others(111): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624805 | A | ATATATAC others(87): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01192.hp1 HG01993.hp2 others(1): Show |
a0002a0017 | a0002c0004a0017c0075 | a0002c0004t0001a0017c0075t0001 | a0002c0004t0001g0158 a0002c0004t0001g0159 a0002c0004t0001g0160 others(1): Show |
4 | 342 | 0.0117 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624807 | A | ATATATAC others(87): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0163 | 1 | 342 | 0.0029 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624807 | A | ATATATAC others(87): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0048 | 1 | 342 | 0.0029 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624807 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02083.hp1 HG02293.hp2 others(6): Show |
a0001a0002a0003others(4): Show | a0001c0006a0002c0003a0003c0005others(5): Show | a0001c0006t0001a0002c0003t0001a0003c0005t0001others(5): Show | a0001c0006t0001g0331 a0002c0003t0001g0300 a0002c0003t0001g0326 others(6): Show |
9 | 342 | 0.0263 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624807 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01346.hp2 HG02698.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0006a0002c0003a0003c0002others(6): Show | a0001c0006t0001a0002c0003t0001a0002c0003t0011others(9): Show | a0001c0006t0001g0104 a0001c0006t0001g0136 a0001c0006t0001g0328 others(19): Show |
22 | 342 | 0.0643 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624807 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0306 | 1 | 342 | 0.0029 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624816 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02293.hp1 |
a0003 | a0003c0002a0003c0005 | a0003c0002t0001a0003c0005t0001 | a0003c0002t0001g0165 a0003c0005t0001g0108 |
2 | 342 | 0.0059 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624823 | A | ATATGTGT others(87): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0059 | a0005c0059t0035 | a0005c0059t0035g0190 | 1 | 342 | 0.0029 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624857 | G | GTATATAC others(87): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0060 | a0003c0060t0052 | a0003c0060t0052g0277 | 1 | 342 | 0.0029 | 94 | c.653 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644512 | T | TATATATC others(87): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 342 | 0.0029 | 94 | c.136 others(111): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764914 | G | GAGAAGAA others(87): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0159 | 1 | 250 | 0.0040 | 94 | c.-14 others(115): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764921 | A | AGAAAGAA others(87): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0174 | 1 | 250 | 0.0040 | 94 | c.-14 others(115): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764922 | G | GAAAGAAA others(87): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0207 | 1 | 250 | 0.0040 | 94 | c.-14 others(115): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
KCMF1_chr2_84966161_85064472 | 85008381 | T | TAATATAT others(87): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0268 | 1 | 274 | 0.0037 | 94 | c.17- others(111): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049675 | T | TTATATAT others(87): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0160 | 1 | 408 | 0.0025 | 94 | c.1-7 others(107): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757364 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 232 | 0.0043 | 94 | c.-67 others(113): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |