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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(958): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 6 | 0.1667 | 965 | c.380 others(982): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(958): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(26): Show |
a0001a0006 | a0001c0001a0001c0009a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0158 a0001c0001t0001g0196 a0001c0001t0001g0202 others(26): Show |
29 | 34 | 0.8529 | 965 | c.380 others(982): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(958): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 6 | 0.1667 | 965 | c.380 others(982): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(958): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00673.hp1 others(33): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0229 others(33): Show |
36 | 41 | 0.8780 | 965 | c.380 others(982): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(958): Show |
intron_variant | MODIFIER | HG02698.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 a0001c0001t0002g0259 |
2 | 7 | 0.2857 | 965 | c.380 others(982): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(958): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 6 | 0.1667 | 965 | c.380 others(982): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613681 | C | CACCTCCT others(958): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0032 | 1 | 314 | 0.0032 | 965 | c.380 others(982): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(958): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0140 | 1 | 74 | 0.0135 | 965 | c.937 others(980): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(958): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 |
a0001 | a0001c0011a0001c0060 | a0001c0011t0001a0001c0060t0004 | a0001c0011t0001g0193 a0001c0060t0004g0240 |
2 | 14 | 0.1429 | 965 | c.109 others(984): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCTTCT others(958): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0101 | 1 | 146 | 0.0068 | 965 | c.193 others(984): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680483 | C | CCTTCCTC others(958): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 67 | 0.0149 | 965 | c.150 others(984): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GCAT_chr22_37802934_37821897 | 37817170 | C | CGAAATTA others(958): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0062 | 1 | 385 | 0.0026 | 965 | c.*45 others(974): Show |
GCAT | ENSG00000100116.17 | transcript | ENST00000248924.11 | protein_coding | 274 | chr22 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(958): Show |
intron_variant | MODIFIER | NA18980.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0237 |
2 | 133 | 0.0150 | 965 | c.94- others(978): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(958): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0046 | 1 | 6 | 0.1667 | 965 | c.368 others(982): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(958): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0064 | 1 | 6 | 0.1667 | 965 | c.100 others(984): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGGA others(958): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0041 | a0041c0036 | a0041c0036t0001 | a0041c0036t0001g0137 | 1 | 8 | 0.1250 | 965 | c.641 others(980): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(958): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0055 | 1 | 213 | 0.0047 | 965 | c.250 others(980): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(958): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01255.hp1 HG01433.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0008t0001g0152 |
3 | 6 | 0.5000 | 965 | c.279 others(980): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841522 | C | CACCCTGA others(958): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 229 | 0.0044 | 965 | c.361 others(984): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(958): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0233 | 1 | 24 | 0.0417 | 965 | c.371 others(982): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(958): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0048 | 1 | 24 | 0.0417 | 965 | c.371 others(982): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855497 | A | ACCCTCTA others(958): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 244 | 0.0041 | 965 | c.114 others(984): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855497 | A | ACCCTCTA others(958): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 244 | 0.0041 | 965 | c.114 others(984): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492393 | T | TTCCCGGG others(958): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 263 | 0.0038 | 965 | c.126 others(984): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(958): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0265 | 1 | 306 | 0.0033 | 965 | c.45- others(980): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(958): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 306 | 0.0033 | 965 | c.45- others(980): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(958): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 119 | 0.0084 | 965 | c.389 others(986): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(958): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0006 | a0002c0006t0023 | a0002c0006t0023g0124 | 1 | 42 | 0.0238 | 965 | c.916 others(982): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(958): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0114 | 1 | 42 | 0.0238 | 965 | c.916 others(982): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(958): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 28 | 0.0357 | 965 | c.113 others(984): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 262 | 0.0038 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 262 | 0.0038 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 262 | 0.0038 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | HG02683.hp2 HG04228.hp2 NA18959.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0040 |
5 | 266 | 0.0188 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18946.hp2 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0020 | a0001c0001t0002g0015 a0001c0001t0006g0015 a0001c0001t0020g0015 |
4 | 265 | 0.0151 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0214 | 1 | 262 | 0.0038 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 43919853 | T | TGTGGTTG others(958): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02451.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0028 a0002c0002t0001g0082 |
2 | 82 | 0.0244 | 965 | c.278 others(984): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 43919853 | T | TGTGGTTG others(958): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0110 |
2 | 82 | 0.0244 | 965 | c.278 others(984): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 43919853 | T | TGTGGTTG others(958): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 HG02280.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 others(15): Show |
18 | 98 | 0.1837 | 965 | c.278 others(984): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(958): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 241 | 0.0041 | 965 | c.728 others(982): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(959): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 201 | 0.0050 | 966 | c.130 others(985): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73731481 | G | GGGTTTCA others(959): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0023 | 1 | 426 | 0.0023 | 966 | c.*50 others(977): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 4612 | chr7 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289575 | T | TCCGTCCC others(959): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 238 | 0.0042 | 966 | c.*39 others(977): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2815 | chr1 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111144 | T | TCTCCTAA others(959): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0152 | 1 | 294 | 0.0034 | 966 | c.401 others(983): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111639 | G | GGGCACCT others(959): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 265 | 0.0038 | 966 | c.401 others(983): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111954 | T | TCCAGACA others(959): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0003 | 2 | 234 | 0.0085 | 966 | c.401 others(983): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(959): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0157 | 1 | 112 | 0.0089 | 966 | c.48- others(983): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581253 | T | TACGTATA others(959): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0108 | 1 | 160 | 0.0063 | 966 | c.48- others(983): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89342040 | C | CGGCCACG others(959): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0034 | a0034c0052 | a0034c0052t0003 | a0034c0052t0003g0121 | 1 | 308 | 0.0032 | 966 | c.-59 others(985): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932184 | A | ACTAGTAA others(959): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0028 a0001c0001t0002g0140 a0001c0001t0005g0139 others(4): Show |
7 | 147 | 0.0476 | 966 | c.23- others(981): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar |