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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(649): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 290 | 0.0035 | 656 | c.464 others(669): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(649): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 656 | c.*12 others(667): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(649): Show |
downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 422 | 0.0024 | 656 | c.*64 others(667): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(649): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0028others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0057others(3): Show | 6 | 258 | 0.0233 | 656 | c.113 others(675): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47128195 | T | TCCCTCCA others(649): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0082 | 1 | 112 | 0.0089 | 656 | c.142 others(677): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1273624 | A | ACATCAGA others(649): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 392 | 0.0026 | 656 | c.228 others(675): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(649): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0101 | 1 | 256 | 0.0039 | 656 | c.924 others(673): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(649): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02040.hp1 HG02056.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0139a0001c0001t0002g0067others(10): Show | 13 | 256 | 0.0508 | 656 | c.924 others(673): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(649): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 256 | 0.0039 | 656 | c.924 others(673): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(649): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 256 | 0.0039 | 656 | c.924 others(673): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(649): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0102 | 1 | 256 | 0.0039 | 656 | c.924 others(673): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(649): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00673.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002 | a0001c0001t0001g0221a0001c0001t0002g0068a0001c0005t0002g0118 | 3 | 256 | 0.0117 | 656 | c.924 others(673): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(649): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 256 | 0.0039 | 656 | c.924 others(673): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(649): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0046 | 1 | 256 | 0.0039 | 656 | c.924 others(673): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113817375 | A | ACGGGGAC others(649): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0083 | 1 | 260 | 0.0039 | 656 | c.*54 others(667): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 381 | chr13 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418906 | T | TTCCCTCC others(649): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 114 | 0.0088 | 656 | c.215 others(673): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TRAPPC12_chr2_3374694_3484565 | 3437490 | A | ACCCCATC others(649): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0234 | 1 | 344 | 0.0029 | 656 | c.141 others(675): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(649): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 272 | 0.0037 | 656 | c.*28 others(667): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(649): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 NA19007.hp2 NA19079.hp2 |
a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0003 | 3 | 272 | 0.0110 | 656 | c.*28 others(667): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273358 | T | TTATATAT others(649): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0016 | 2 | 272 | 0.0074 | 656 | c.*29 others(667): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2245 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273431 | A | ATATATAT others(649): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 272 | 0.0037 | 656 | c.*29 others(667): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2318 | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(649): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0036 | a0001c0009t0036g0029 | 1 | 174 | 0.0058 | 656 | c.41- others(673): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204105 | T | TATTATAT others(649): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0166 | 1 | 174 | 0.0058 | 656 | c.41- others(673): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204105 | T | TATTATAT others(649): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0120 | 1 | 174 | 0.0058 | 656 | c.41- others(673): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204105 | T | TATTATAT others(649): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02040.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0004a0001c0013t0046 | a0001c0001t0004g0113a0001c0013t0046g0161 | 2 | 174 | 0.0115 | 656 | c.41- others(673): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSNARE1_chr8_142207080_142408182 | 142242243 | T | TGCCGTAT others(649): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0151 | 1 | 238 | 0.0042 | 656 | c.144 others(677): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142242243 | T | TGCCGTAT others(649): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG02040.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0031a0001c0001t0002g0034a0002c0002t0001g0153others(7): Show | 10 | 238 | 0.0420 | 656 | c.144 others(677): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142242243 | T | TGCCGTAT others(649): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03471.hp1 |
a0011a0015 | a0011c0020a0015c0012 | a0011c0020t0001a0015c0012t0001 | a0011c0020t0001g0147a0015c0012t0001g0185 | 2 | 238 | 0.0084 | 656 | c.144 others(677): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(649): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 338 | 0.0030 | 656 | c.246 others(675): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(649): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 338 | 0.0030 | 656 | c.246 others(675): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(649): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0250 | 1 | 344 | 0.0029 | 656 | c.218 others(673): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169405 | C | CCCTCCCT others(649): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 115 | 0.0087 | 656 | c.*62 others(665): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 538 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533307 | A | ACCTCTTC others(649): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0049 | 1 | 74 | 0.0135 | 656 | c.*43 others(665): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 310 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467283 | A | AGGAAGAG others(649): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 | 1 | 271 | 0.0037 | 656 | c.*90 others(665): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 774 | chrX | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(649): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 408 | 0.0025 | 656 | c.53+ others(671): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(649): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0205 | 1 | 408 | 0.0025 | 656 | c.53+ others(671): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(649): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 408 | 0.0025 | 656 | c.53+ others(671): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292957 | C | CGGTTAGC others(649): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0129 | 2 | 404 | 0.0050 | 656 | c.339 others(673): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46292957 | C | CGGTTAGC others(649): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 404 | 0.0025 | 656 | c.339 others(673): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46293740 | G | GCAAGTTA others(649): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 404 | 0.0025 | 656 | c.339 others(673): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(649): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0139 | 1 | 246 | 0.0041 | 656 | c.-10 others(673): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(649): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0111 | 1 | 350 | 0.0029 | 656 | c.-35 others(667): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1850152 | G | GGCTGCGT others(650): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 |
a0004 | a0004c0044a0004c0139 | a0004c0044t0004a0004c0139t0009 | a0004c0044t0004g0349a0004c0139t0009g0196 | 2 | 363 | 0.0055 | 657 | c.37+ others(672): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1850152 | G | GGCTGCGT others(650): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0101 | a0001c0101t0001 | a0001c0101t0001g0040 | 1 | 363 | 0.0028 | 657 | c.37+ others(672): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1920052 | G | GTGGGTGA others(650): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0054 | 1 | 363 | 0.0028 | 657 | c.214 others(676): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130049880 | G | GGAACACA others(650): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 308 | 0.0033 | 657 | c.*48 others(668): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2223 | chr8 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(650): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0252 | 1 | 376 | 0.0027 | 657 | c.63+ others(670): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(650): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18954.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0072 | a0001c0001t0003g0012a0001c0001t0012g0132a0001c0001t0072g0057 | 3 | 214 | 0.0140 | 657 | c.565 others(674): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894442 | A | ACACGCAC others(650): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 284 | 0.0035 | 657 | c.380 others(674): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 420935 | A | AAAATACA others(650): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01884.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0188a0003c0003t0001g0341 | 2 | 432 | 0.0046 | 657 | c.413 others(674): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |