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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQCJ_chr3_159064319_159268747 | 159114251 | T | TTGTATCT others(45): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 252 | 0.0040 | 52 | c.9+4 others(67): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149368888 | A | ATACATAT others(45): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0185 |
2 | 252 | 0.0079 | 52 | c.139 others(73): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 131036 | C | CCGCGATC others(45): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 NA18747.hp1 others(4): Show |
a0001a0004a0013 | a0001c0004a0001c0007a0004c0010others(1): Show | a0001c0004t0001a0001c0004t0037a0001c0007t0001others(2): Show | a0001c0004t0001g0109 a0001c0004t0001g0235 a0001c0004t0037g0208 others(4): Show |
7 | 282 | 0.0248 | 52 | c.903 others(69): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(45): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0073 | 1 | 278 | 0.0036 | 52 | c.67+ others(69): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(45): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 420 | 0.0024 | 52 | c.-39 others(63): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(45): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 a0001c0001t0006g0113 |
2 | 420 | 0.0048 | 52 | c.-39 others(63): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(45): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 420 | 0.0024 | 52 | c.-39 others(63): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(45): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0323 | 1 | 420 | 0.0024 | 52 | c.-39 others(63): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(45): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0333 | 1 | 420 | 0.0024 | 52 | c.-39 others(63): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IRF4_chr6_386752_416443 | 396715 | T | TTATCTCA others(45): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02015.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0221 |
9 | 460 | 0.0196 | 52 | c.493 others(67): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IRF4_chr6_386752_416443 | 396923 | C | CTATCTCA others(45): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(37): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 others(18): Show |
40 | 460 | 0.0870 | 52 | c.493 others(66): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IRF4_chr6_386752_416443 | 396961 | G | GATGCCAG others(45): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 3 | 460 | 0.0065 | 52 | c.493 others(65): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IRX6_chr16_55319203_55335756 | 55325482 | G | GGAAAGAA others(45): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02602.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 a0001c0001t0002g0116 |
3 | 448 | 0.0067 | 52 | c.45+ others(65): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRX6_chr16_55319203_55335756 | 55325530 | G | GGAAGGAA others(45): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 448 | 0.0022 | 52 | c.45+ others(65): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ISCU_chr12_108557596_108574368 | 108572541 | T | TGTGCGCA others(45): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 446 | 0.0022 | 52 | c.*36 others(63): Show |
ISCU | ENSG00000136003.16 | transcript | ENST00000311893.14 | protein_coding | 3174 | chr12 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68396933 | T | TACAATAT others(45): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03669.hp2 |
a0001a0005 | a0001c0001a0005c0032 | a0001c0001t0009a0005c0032t0001 | a0001c0001t0009g0151 a0005c0032t0001g0202 |
2 | 242 | 0.0083 | 52 | c.164 others(69): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400869 | T | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02132.hp1 NA18953.hp2 |
a0003a0005a0007 | a0003c0009a0005c0015a0007c0006 | a0003c0009t0014a0005c0015t0093a0007c0006t0053 | a0003c0009t0014g0218 a0005c0015t0093g0205 a0007c0006t0053g0110 |
3 | 242 | 0.0124 | 52 | c.164 others(69): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400917 | T | TATAATAT others(45): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0004 | a0004c0082 | a0004c0082t0092 | a0004c0082t0092g0027 | 1 | 242 | 0.0041 | 52 | c.164 others(69): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406007 | C | CAGTCTTC others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0224 | a0001c0001t0224g0244 | 1 | 276 | 0.0036 | 52 | c.*77 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 826 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406008 | A | AGTCTTCC others(45): Show |
3_prime_UTR_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0121 | a0001c0001t0121g0082 | 1 | 276 | 0.0036 | 52 | c.*77 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 825 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406143 | T | TTGTCACT others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0204 | a0001c0001t0204g0139 | 1 | 276 | 0.0036 | 52 | c.*69 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 690 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406172 | A | AGTCTTCC others(45): Show |
3_prime_UTR_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0231 | a0001c0001t0231g0047 | 1 | 276 | 0.0036 | 52 | c.*66 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 661 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406191 | G | GTGTGTGT others(45): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0225 | a0001c0001t0225g0194 | 1 | 276 | 0.0036 | 52 | c.*64 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 642 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406228 | C | CGTCTTCC others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0160a0001c0001t0178a0001c0001t0204 | a0001c0001t0160g0199 a0001c0001t0178g0024 a0001c0001t0204g0139 |
3 | 276 | 0.0109 | 52 | c.*60 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 605 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406340 | A | AGTCTTCC others(45): Show |
3_prime_UTR_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0050 | 1 | 276 | 0.0036 | 52 | c.*49 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 493 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406479 | T | TTGTCACT others(45): Show |
3_prime_UTR_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0179 | a0001c0001t0179g0094 | 1 | 276 | 0.0036 | 52 | c.*35 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 354 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406508 | C | CGTCTTCC others(45): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0154 | 1 | 276 | 0.0036 | 52 | c.*32 others(61): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 325 | chr2 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124810908 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 352 | 0.0028 | 52 | c.112 others(71): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26831685 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0009 | a0009c0050 | a0009c0050t0003 | a0009c0050t0003g0016 | 1 | 142 | 0.0070 | 52 | c.92+ others(66): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24337315 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0020 | 1 | 224 | 0.0045 | 52 | c.-33 others(69): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1/39 | chr2 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105149868 | T | TGGGGAGG others(45): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01123.hp1 HG01175.hp1 others(6): Show |
a0002a0010 | a0002c0002a0010c0031 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0026 a0002c0002t0001g0082 a0002c0002t0001g0105 others(5): Show |
9 | 364 | 0.0247 | 52 | c.160 others(69): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160086 | T | TCTACTTC others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0001 a0003c0002t0001g0003 |
2 | 158 | 0.0127 | 52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160328 | C | CGCTGTGT others(45): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0047 | a0002c0047t0022 | a0002c0047t0022g0045 | 1 | 158 | 0.0063 | 52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160878 | C | CCCTGTGT others(45): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02027.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0017others(5): Show | a0001c0001t0003a0001c0006t0017a0001c0017t0003others(6): Show | a0001c0001t0003g0102 a0001c0006t0017g0154 a0001c0017t0003g0011 others(9): Show |
12 | 158 | 0.0760 | 52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160898 | G | GGCCTCTT others(45): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0025 | a0002c0025t0008 | a0002c0025t0008g0033 | 1 | 158 | 0.0063 | 52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160900 | C | CCTCTTCC others(45): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0008 | 1 | 158 | 0.0063 | 52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160969 | T | TAGGGGGT others(45): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0027 | a0001c0017t0027g0012 | 1 | 158 | 0.0063 | 52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132161000 | G | GGGGTCTA others(45): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0037 | 1 | 158 | 0.0063 | 52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161242 | C | CCTGTGTG others(45): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02280.hp2 HG03927.hp2 |
a0001a0004 | a0001c0001a0001c0015a0004c0009 | a0001c0001t0002a0001c0015t0005a0004c0009t0002 | a0001c0001t0002g0105 a0001c0015t0005g0140 a0004c0009t0002g0059 |
3 | 158 | 0.0190 | 52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15415637 | C | CGGGGGGC others(45): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 284 | 0.0035 | 52 | c.323 others(69): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JMJD6_chr17_76713451_76731606 | 76728306 | T | TTGTTTTT others(45): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 HG02735.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0138 a0001c0003t0001g0139 |
2 | 440 | 0.0046 | 52 | c.-18 others(63): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 1701 | chr17 | TogoVar | |||||||
JMJD6_chr17_76713451_76731606 | 76728306 | T | TTGTTTTT others(45): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0059 others(2): Show |
7 | 440 | 0.0159 | 52 | c.-18 others(63): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 1701 | chr17 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79270598 | G | GTATATTT others(45): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0009a0003c0005t0013 | a0003c0005t0009g0205 a0003c0005t0009g0207 a0003c0005t0013g0202 others(2): Show |
5 | 342 | 0.0146 | 52 | c.103 others(71): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGGAGG others(45): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0086 | a0002c0002t0086g0245 | 1 | 338 | 0.0030 | 52 | c.117 others(71): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34181806 | A | ACACATAT others(45): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0238 others(2): Show |
5 | 344 | 0.0145 | 52 | c.-14 others(71): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KCNB2_chr8_72532225_72943349 | 72920453 | C | CTATATAT others(45): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02004.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0020 a0001c0001t0002g0092 a0001c0001t0003g0157 others(2): Show |
5 | 164 | 0.0305 | 52 | c.580 others(71): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72920453 | C | CTATATAT others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 164 | 0.0061 | 52 | c.580 others(71): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNE3_chr11_74449841_74472549 | 74456155 | A | AATATATA others(45): Show |
3_prime_UTR_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0152 | 1 | 446 | 0.0022 | 52 | c.*10 others(63): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 3/3 | 1096 | chr11 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62853453 | A | AATCATAT others(45): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 224 | 0.0045 | 52 | c.137 others(71): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853458 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 224 | 0.0045 | 52 | c.137 others(71): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar |