| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RPH3AL_chr17_207389_357807 | 218333 | T | TTGGGGCA others(341): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0024a0001c0001t0032g0004 | 2 | 133 | 0.0150 | 348 | c.727 others(365): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
| RPIA_chr2_88686673_88755929 | 88708223 | A | AGGAATCT others(341): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 368 | 0.0027 | 348 | c.402 others(365): Show |
RPIA | ENSG00000153574.9 | transcript | ENST00000283646.5 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RSU1_chr10_16585611_16822424 | 16645918 | A | ACATATAT others(341): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 190 | 0.0053 | 348 | c.731 others(367): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
| RSU1_chr10_16585611_16822424 | 16645918 | A | ACATATAT others(341): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19005.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0126a0001c0002t0003g0169 | 2 | 190 | 0.0105 | 348 | c.731 others(367): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
| RSU1_chr10_16585611_16822424 | 16645918 | A | ACATATAT others(341): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0155 | 1 | 190 | 0.0053 | 348 | c.731 others(367): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85088071 | C | CGTATTAA others(341): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0015 | 2 | 232 | 0.0086 | 348 | c.*43 others(359): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4212 | chrX | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85088071 | C | CGTATTAA others(341): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 232 | 0.0043 | 348 | c.*43 others(359): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4212 | chrX | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77484805 | G | GTGGTGAT others(341): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0118 | 1 | 150 | 0.0067 | 348 | c.913 others(365): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77484805 | G | GTGGTGAT others(341): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0131 | 1 | 158 | 0.0063 | 348 | c.859 others(365): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SGSM2_chr17_2332501_2386054 | 2355834 | G | GGGGGCAG others(341): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0354 | 1 | 422 | 0.0024 | 348 | c.134 others(365): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SGSM2_chr17_2332501_2386054 | 2355883 | T | TGGGGGCA others(341): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG02895.hp2 others(2): Show |
a0001a0025 | a0001c0001a0001c0005a0025c0047 | a0001c0001t0001a0001c0005t0002a0025c0047t0001 | a0001c0001t0001g0061a0001c0001t0001g0070a0001c0001t0001g0085others(2): Show | 5 | 422 | 0.0119 | 348 | c.134 others(365): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHANK1_chr19_50654255_50724802 | 50678865 | G | GTGGGGAG others(341): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0008 | a0002c0008t0013 | a0002c0008t0013g0207 | 1 | 316 | 0.0032 | 348 | c.257 others(367): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
| SHANK1_chr19_50654255_50724802 | 50678902 | G | GTGGGGAG others(341): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0001 | a0002c0001t0027 | a0002c0001t0027g0029 | 1 | 316 | 0.0032 | 348 | c.257 others(367): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
| SHANK1_chr19_50654255_50724802 | 50678936 | A | ATGATGGG others(341): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0013 | 1 | 316 | 0.0032 | 348 | c.257 others(367): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 431544 | C | CAGATAGA others(341): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG02293.hp2 others(8): Show |
a0001a0004 | a0001c0003a0004c0010 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(1): Show | a0001c0003t0001g0113a0001c0003t0002g0060a0001c0003t0002g0069others(8): Show | 11 | 212 | 0.0519 | 348 | c.111 others(365): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 116975247 | A | AAAATTCA others(341): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0025 | 1 | 366 | 0.0027 | 348 | c.274 others(367): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2282161 | C | CGCCCGAG others(341): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0055 | a0002c0002t0055g0183 | 1 | 330 | 0.0030 | 348 | c.970 others(367): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC10A5_chr8_81688631_81700058 | 81691559 | A | AGGAGTAA others(341): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 426 | 0.0024 | 348 | c.*20 others(359): Show |
SLC10A5 | ENSG00000253598.3 | transcript | ENST00000518568.3 | protein_coding | 2071 | chr8 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1072986 | C | CCCCAGTG others(341): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0024 | 1 | 118 | 0.0085 | 348 | c.224 others(365): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1098513 | G | GCCCCCTT others(341): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 118 | 0.0085 | 348 | c.125 others(365): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
| SLC17A5_chr6_73588379_73658992 | 73632008 | T | TAAGAATG others(341): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02109.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025a0001c0001t0004g0032a0001c0001t0004g0033others(2): Show | 5 | 324 | 0.0154 | 348 | c.819 others(365): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
| SLC25A18_chr22_17558498_17595995 | 17567654 | C | CTATCCTT others(341): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0028a0001c0001t0013g0029 | 2 | 410 | 0.0049 | 348 | c.-26 others(367): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SLC35F1_chr6_117902264_118322671 | 117923737 | A | ATACATAT others(341): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0046 | a0001c0001t0043g0170a0001c0001t0046g0169 | 2 | 182 | 0.0110 | 348 | c.173 others(367): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SLC35F1_chr6_117902264_118322671 | 117923737 | A | ATATACAT others(341): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0024a0001c0001t0033others(2): Show | a0001c0001t0007g0008a0001c0001t0024g0110a0001c0001t0033g0122others(2): Show | 5 | 182 | 0.0275 | 348 | c.173 others(367): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SLC38A4_chr12_46759761_46830997 | 46827604 | C | CTAAAATG others(341): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 384 | 0.0026 | 348 | c.-20 others(359): Show |
SLC38A4 | ENSG00000139209.16 | transcript | ENST00000266579.9 | protein_coding | 1608 | chr12 | TogoVar | ||||||
| SLC38A9_chr5_55620848_55717324 | 55659244 | T | TAAAAAAA others(341): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0178 | 1 | 350 | 0.0029 | 348 | c.698 others(365): Show |
SLC38A9 | ENSG00000177058.12 | transcript | ENST00000396865.7 | protein_coding | 8/15 | chr5 | TogoVar | ||||||
| SLC39A11_chr17_72640949_73097688 | 72665321 | T | TCTCAGAT others(341): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0018 | a0001c0018t0006 | a0001c0018t0006g0169 | 1 | 180 | 0.0056 | 348 | c.672 others(367): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
| SLC4A4_chr4_71182259_71577083 | 71333881 | T | TGCCAGGC others(341): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 152 | 0.0066 | 348 | c.254 others(365): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLCO1B1_chr12_21126194_21244796 | 21205608 | T | TTGGTTTA others(341): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03130.hp1 HG03516.hp2 |
a0007 | a0007c0008 | a0007c0008t0006 | a0007c0008t0006g0244a0007c0008t0006g0245a0007c0008t0006g0247 | 3 | 318 | 0.0094 | 348 | c.133 others(365): Show |
SLCO1B1 | ENSG00000134538.3 | transcript | ENST00000256958.3 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SLCO3A1_chr15_91848708_92170903 | 92143430 | A | ATATAAAA others(341): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0035 | 1 | 190 | 0.0053 | 348 | c.151 others(367): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | chr15 | TogoVar | ||||||
| SMIM36_chr17_55444856_55516452 | 55501102 | A | ATTATAAT others(341): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 2 | 340 | 0.0059 | 348 | c.*17 others(367): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SNTG1_chr8_49906407_50801692 | 50480261 | T | TCGTCTTT others(341): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 106 | 0.0094 | 348 | c.364 others(367): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SNX10_chr7_26286862_26379383 | 26311855 | T | TAAGATTT others(341): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 390 | 0.0026 | 348 | c.-24 others(367): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPATA17_chr1_217626344_217876696 | 217740158 | A | AGGCCTTT others(341): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 252 | 0.0040 | 348 | c.396 others(365): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SPNS3_chr17_4428940_4493204 | 4462386 | C | CACCAATC others(341): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03195.hp2 NA18939.hp2 |
a0002 | a0002c0002a0002c0037 | a0002c0002t0001a0002c0037t0002 | a0002c0002t0001g0247a0002c0002t0001g0284a0002c0037t0002g0323 | 3 | 362 | 0.0083 | 348 | c.111 others(367): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SPNS3_chr17_4428940_4493204 | 4462390 | C | CACCAATC others(341): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG01255.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(7): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0266a0001c0013t0001g0261a0001c0013t0001g0359others(35): Show | 38 | 362 | 0.1050 | 348 | c.111 others(367): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SPNS3_chr17_4428940_4493204 | 4462394 | C | CACCAATC others(341): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01074.hp2 others(15): Show |
a0001a0002a0009 | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0007t0003a0002c0002t0001others(4): Show | a0001c0001t0001g0240a0001c0001t0001g0274a0001c0001t0001g0275others(15): Show | 18 | 362 | 0.0497 | 348 | c.111 others(367): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SPNS3_chr17_4428940_4493204 | 4462394 | C | CACCAATC others(341): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0292 | 1 | 362 | 0.0028 | 348 | c.111 others(367): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SPNS3_chr17_4428940_4493204 | 4462398 | C | CACCAATC others(341): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01943.hp2 HG02630.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0007a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0003others(2): Show | a0001c0001t0001g0034a0001c0001t0002g0145a0001c0007t0003g0342others(2): Show | 5 | 362 | 0.0138 | 348 | c.111 others(367): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SPNS3_chr17_4428940_4493204 | 4462402 | C | CACCAATC others(341): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0009a0001c0013 | a0001c0001t0002a0001c0009t0004a0001c0013t0001 | a0001c0001t0002g0037a0001c0009t0004g0061a0001c0013t0001g0115 | 3 | 362 | 0.0083 | 348 | c.111 others(367): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SPNS3_chr17_4428940_4493204 | 4462406 | C | CACCAATC others(341): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03942.hp1 |
a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0086a0001c0010t0002g0090 | 2 | 362 | 0.0055 | 348 | c.111 others(367): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SRBD1_chr2_45383680_45616267 | 45587038 | T | TATTTTAA others(341): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 358 | 0.0028 | 348 | c.649 others(365): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | ||||||
| SRRD_chr22_26478877_26499658 | 26481135 | G | GAAAGAAA others(341): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 448 | 0.0022 | 348 | c.-27 others(359): Show |
SRRD | ENSG00000100104.13 | transcript | ENST00000215917.11 | protein_coding | 2741 | chr22 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(341): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | 348 | c.*64 others(359): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
| ST6GALNAC5_chr1_76862480_77072546 | 77003279 | T | TTAAAGTC others(341): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 202 | 0.0050 | 348 | c.262 others(367): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| STPG4_chr2_47081991_47160308 | 47092141 | T | TGCATTTT others(341): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 2 | 352 | 0.0057 | 348 | c.520 others(365): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | ||||||
| STXBP4_chr17_54963765_55178632 | 55038729 | T | TCATAGTA others(341): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02970.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0013a0003c0004t0031a0003c0004t0131 | a0003c0004t0013g0260a0003c0004t0013g0262a0003c0004t0013g0265others(3): Show | 6 | 378 | 0.0159 | 348 | c.855 others(365): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SUCO_chr1_172528150_172616833 | 172571926 | A | AGGTGGGG others(341): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0167 | 2 | 340 | 0.0059 | 348 | c.104 others(367): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | ||||||
| SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(341): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0191 | 1 | 392 | 0.0026 | 348 | c.271 others(365): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
| SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(341): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170 | 1 | 392 | 0.0026 | 348 | c.271 others(365): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar |