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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2158): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0295 | 1 | 348 | 0.0029 | 2165 | c.600 others(2184): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129828762 | G | GGGAGGGA others(2158): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0006 | a0006c0015 | a0006c0015t0024 | a0006c0015t0024g0087 | 1 | 94 | 0.0106 | 2165 | c.79+ others(2182): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2159): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 116 | 0.0086 | 2166 | c.-52 others(2187): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2159): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0119 | 1 | 298 | 0.0034 | 2166 | c.126 others(2183): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(2159): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0053 | a0053c0139 | a0053c0139t0003 | a0053c0139t0003g0177 | 1 | 256 | 0.0039 | 2166 | c.323 others(2185): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0047 | 1 | 238 | 0.0042 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02738.hp1 HG03704.hp2 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0006others(1): Show | a0001c0001t0004a0001c0001t0008a0003c0003t0031others(2): Show | a0001c0001t0004g0110a0001c0001t0008g0059a0003c0003t0031g0003others(2): Show | 5 | 238 | 0.0210 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0034 | 1 | 238 | 0.0042 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0035 | 1 | 238 | 0.0042 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2159): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0011 | a0011c0024 | a0011c0024t0121 | a0011c0024t0121g0237 | 1 | 238 | 0.0042 | 2166 | c.183 others(2183): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914670 | T | TCCCTTCC others(2159): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0027 | a0005c0027t0001 | a0005c0027t0001g0127 | 1 | 294 | 0.0034 | 2166 | c.515 others(2183): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2159): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 362 | 0.0028 | 2166 | c.-56 others(2185): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2159): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 362 | 0.0028 | 2166 | c.-56 others(2185): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2159): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237a0001c0001t0002g0254 | 2 | 362 | 0.0055 | 2166 | c.-56 others(2185): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2159): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0166 | 1 | 362 | 0.0028 | 2166 | c.-56 others(2185): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PRAMEF5_chr1_13249198_13268435 | 13253975 | T | TGCTTCAT others(2159): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0007 | a0007c0008 | a0007c0008t0011 | a0007c0008t0011g0010 | 1 | 142 | 0.0070 | 2166 | c.-32 others(2175): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 222 | chr1 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2159): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0000a0001c0001t0005g0000 | 3 | 375 | 0.0080 | 2166 | c.*44 others(2177): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414506 | C | CGCTGGGT others(2159): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0329 | 1 | 373 | 0.0027 | 2166 | c.115 others(2183): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134608358 | A | AAGGACAG others(2159): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 222 | 0.0045 | 2166 | c.323 others(2185): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2160): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0040 | a0040c0043 | a0040c0043t0002 | a0040c0043t0002g0018 | 1 | 350 | 0.0029 | 2167 | c.169 others(2186): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2160): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0057 | a0007c0057t0003 | a0007c0057t0003g0016 | 1 | 350 | 0.0029 | 2167 | c.169 others(2186): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2160): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02109.hp2 HG02132.hp2 |
a0007a0030 | a0007c0010a0030c0062 | a0007c0010t0001a0030c0062t0001 | a0007c0010t0001g0046a0007c0010t0001g0047a0030c0062t0001g0263 | 3 | 350 | 0.0086 | 2167 | c.169 others(2186): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2160): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0036 | 1 | 350 | 0.0029 | 2167 | c.169 others(2186): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATAGATA others(2160): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0277 | 1 | 292 | 0.0034 | 2167 | c.228 others(2184): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2160): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0042 | 1 | 369 | 0.0027 | 2167 | c.-49 others(2178): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2160): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 301 | 0.0033 | 2167 | c.-11 others(2178): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2160): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 301 | 0.0033 | 2167 | c.-11 others(2178): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2160): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 HG03239.hp2 HG03669.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0039a0001c0001t0002g0041others(3): Show | 8 | 301 | 0.0266 | 2167 | c.-11 others(2178): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2160): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0196 | 1 | 238 | 0.0042 | 2167 | c.183 others(2184): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 362 | 0.0028 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0216 | 1 | 362 | 0.0028 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0238 | 1 | 362 | 0.0028 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0257 | 1 | 362 | 0.0028 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG00099.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0167a0001c0001t0005g0259 | 2 | 362 | 0.0055 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 | 1 | 362 | 0.0028 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137518516 | G | GTCACTCA others(2160): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 188 | 0.0053 | 2167 | c.108 others(2186): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2160): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2167 | c.*44 others(2178): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
ARMC9_chr2_231193631_231381848 | 231324930 | T | TAAAACAA others(2161): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0180 | 1 | 200 | 0.0050 | 2168 | c.177 others(2187): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0074 | 1 | 350 | 0.0029 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19081.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0112a0003c0003t0001g0167 | 2 | 350 | 0.0057 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0173 | 1 | 350 | 0.0029 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0032 | a0032c0060 | a0032c0060t0003 | a0032c0060t0003g0114 | 1 | 350 | 0.0029 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0174 | 1 | 350 | 0.0029 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(2161): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0006 | a0006c0004 | a0006c0004t0004 | a0006c0004t0004g0022 | 1 | 338 | 0.0030 | 2168 | c.300 others(2185): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36396348 | C | CACGCACG others(2161): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0007 | a0007c0007 | a0007c0007t0029 | a0007c0007t0029g0050 | 1 | 144 | 0.0069 | 2168 | c.-73 others(2187): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01978.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0082a0001c0004t0004g0085 | 2 | 238 | 0.0084 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03491.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0010a0001c0008t0001 | a0001c0001t0010g0079a0001c0008t0001g0096 | 2 | 238 | 0.0084 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0089 | 1 | 238 | 0.0042 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp1 others(47): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0021others(37): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0062others(47): Show | 50 | 238 | 0.2101 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0015 | a0005c0015t0069 | a0005c0015t0069g0197 | 1 | 238 | 0.0042 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar |