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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEZ6L_chr22_26164462_26388596 | 26369354 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0050 | 1 | 240 | 0.0042 | 23 | c.279 others(42): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SF3A2_chr19_2231824_2253655 | 2244209 | A | ACGGCTCC others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02895.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0036a0001c0001t0001g0066a0001c0001t0001g0139others(4): Show | 8 | 420 | 0.0191 | 23 | c.127 others(38): Show |
SF3A2 | ENSG00000104897.10 | transcript | ENST00000221494.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SF3A3_chr1_37951975_37995022 | 37983586 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03579.hp1 NA18957.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0036a0001c0001t0003g0148a0001c0001t0003g0213others(3): Show | 6 | 400 | 0.0150 | 23 | c.468 others(38): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 6/16 | chr1 | TogoVar | ||||||
SF3B1_chr2_197384784_197440028 | 197418234 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01099.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0050a0001c0001t0001g0163a0001c0001t0001g0296others(7): Show | 10 | 344 | 0.0291 | 23 | c.495 others(38): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18946.hp1 |
a0002a0014 | a0002c0002a0014c0014 | a0002c0002t0001a0014c0014t0001 | a0002c0002t0001g0114a0014c0014t0001g0090 | 2 | 322 | 0.0062 | 23 | c.124 others(42): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 322 | 0.0031 | 23 | c.124 others(42): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18994.hp1 NA18995.hp2 NA19089.hp2 |
a0001a0002 | a0001c0001a0001c0020a0002c0002 | a0001c0001t0001a0001c0020t0001a0002c0002t0001 | a0001c0001t0001g0286a0001c0020t0001g0280a0002c0002t0001g0086 | 3 | 322 | 0.0093 | 23 | c.124 others(42): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SFI1_chr22_31491536_31623588 | 31612392 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 322 | 0.0031 | 23 | c.249 others(40): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 24/32 | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31612394 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 322 | 0.0031 | 23 | c.249 others(40): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 24/32 | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31612396 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 322 | 0.0031 | 23 | c.249 others(40): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 24/32 | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52945136 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01081.hp2 others(14): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0040a0001c0001t0001g0183others(14): Show | 17 | 328 | 0.0518 | 23 | c.124 others(40): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 53006628 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03579.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0166 | 2 | 328 | 0.0061 | 23 | c.-13 others(44): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 53040968 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0015 | 2 | 328 | 0.0061 | 23 | c.-13 others(42): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
SFMBT2_chr10_7153624_7416034 | 7214066 | C | CAGGAAAG others(16): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01081.hp1 others(48): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0022a0001c0001t0001g0044a0001c0001t0001g0137others(48): Show | 51 | 144 | 0.3542 | 23 | c.133 others(42): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 11/20 | chr10 | TogoVar | ||||||
SFPQ_chr1_35177936_35198145 | 35196944 | A | ACTGTTGG others(16): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017 | 1 | 380 | 0.0026 | 23 | c.-38 others(34): Show |
SFPQ | ENSG00000116560.12 | transcript | ENST00000357214.6 | protein_coding | 3800 | chr1 | TogoVar | ||||||
SFRP2_chr4_153775591_153794083 | 153789505 | G | GTGTGTGT others(16): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 434 | 0.0023 | 23 | c.-67 others(32): Show |
SFRP2 | ENSG00000145423.5 | transcript | ENST00000274063.5 | protein_coding | 423 | chr4 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131738885 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 318 | 0.0031 | 23 | c.108 others(44): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SFSWAP_chr12_131706090_131804738 | 131795978 | T | TAGGGGAG others(16): Show |
intron_variant | MODIFIER | HG01168.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0173 | 2 | 318 | 0.0063 | 23 | c.253 others(42): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SFT2D3_chr2_127696497_127710242 | 127700138 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 NA20805.hp2 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0000 | 2 | 386 | 0.0052 | 23 | c.-13 others(34): Show |
SFT2D3 | ENSG00000173349.6 | transcript | ENST00000310981.6 | protein_coding | 1358 | chr2 | TogoVar | ||||||
SFTPA1_chr10_79605939_79620443 | 79615265 | T | TGTGGGGG others(16): Show |
3_prime_UTR_variant | MODIFIER | NA18963.hp2 | a0008 | a0008c0020 | a0008c0020t0032 | a0008c0020t0032g0001 | 1 | 472 | 0.0021 | 23 | c.*11 others(34): Show |
SFTPA1 | ENSG00000122852.15 | transcript | ENST00000398636.8 | protein_coding | 6/6 | 1153 | chr10 | TogoVar | |||||
SFXN5_chr2_72937036_73076712 | 73050421 | C | CACACACA others(16): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219 | 1 | 250 | 0.0040 | 23 | c.171 others(40): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
SGCA_chr17_50161005_50180928 | 50176651 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0118 | 1 | 416 | 0.0024 | 23 | c.*95 others(32): Show |
SGCA | ENSG00000108823.17 | transcript | ENST00000262018.8 | protein_coding | 724 | chr17 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156406018 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02083.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0143a0001c0001t0003g0136a0001c0001t0005g0047others(11): Show | 14 | 150 | 0.0933 | 23 | c.192 others(42): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCZ_chr8_14079845_15243431 | 14493359 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0018others(4): Show | a0001c0001t0002g0079a0001c0001t0016g0017a0001c0001t0018g0037others(4): Show | 7 | 102 | 0.0686 | 23 | c.234 others(42): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14769793 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0051 | 1 | 102 | 0.0098 | 23 | c.40- others(42): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66630901 | A | AGGGAGGG others(16): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0195 | 1 | 302 | 0.0033 | 23 | c.75- others(38): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660043 | G | GAAGGAAG others(16): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0032others(1): Show | a0001c0001t0001g0107a0001c0001t0001g0163a0001c0001t0023g0113others(2): Show | 5 | 302 | 0.0166 | 23 | c.460 others(38): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGK1_chr6_134164256_134323112 | 134232411 | A | AAGAAAAG others(16): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002 | a0001c0001t0001g0244a0001c0001t0002g0180a0001c0001t0002g0225others(1): Show | 4 | 250 | 0.0160 | 23 | c.286 others(42): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134273592 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0185a0001c0001t0001g0186 | 3 | 250 | 0.0120 | 23 | c.70- others(40): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66726801 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03130.hp1 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0027a0001c0002t0002g0038a0001c0002t0007g0023 | 3 | 142 | 0.0211 | 23 | c.-12 others(44): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS1_chr10_50300600_50628956 | 50365255 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 312 | 0.0032 | 23 | c.-23 others(44): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200578163 | T | TATAGATA others(16): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 384 | 0.0026 | 23 | c.378 others(42): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGPL1_chr10_70810948_70886184 | 70835735 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0049 | 1 | 402 | 0.0025 | 23 | c.28- others(38): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0098 | a0001c0001t0030g0100a0001c0001t0098g0133 | 2 | 272 | 0.0074 | 23 | c.-23 others(34): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | ||||||
SGSH_chr17_80204276_80225333 | 80222777 | G | GCCCGCCT others(16): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 420 | 0.0024 | 23 | c.-24 others(34): Show |
SGSH | ENSG00000181523.13 | transcript | ENST00000326317.11 | protein_coding | 2445 | chr17 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24822088 | C | CTCTCTTT others(16): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 338 | 0.0030 | 23 | c.63+ others(40): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24822088 | C | CTCTTTTT others(16): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01943.hp1 HG03688.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0032a0001c0001t0001g0033a0002c0002t0003g0101 | 3 | 338 | 0.0089 | 23 | c.63+ others(40): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24922894 | A | AAGGTGGG others(16): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0006 | a0006c0036 | a0006c0036t0039 | a0006c0036t0039g0253 | 1 | 338 | 0.0030 | 23 | c.319 others(42): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2377486 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0022a0001c0003t0002a0001c0005t0002 | a0001c0001t0022g0130a0001c0003t0002g0012a0001c0003t0002g0020others(6): Show | 12 | 422 | 0.0284 | 23 | c.280 others(40): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SGTA_chr19_2749715_2788273 | 2770132 | T | TCCCCCTC others(16): Show |
intron_variant | MODIFIER | HG02486.hp2 NA19043.hp2 |
a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0179a0001c0009t0010g0180 | 2 | 396 | 0.0051 | 23 | c.-23 others(40): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
SH2B2_chr7_102281868_102326711 | 102299197 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0162a0001c0001t0001g0166others(42): Show | 46 | 406 | 0.1133 | 23 | c.-29 others(40): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SH2D2A_chr1_156801243_156821848 | 156817047 | T | TCTCTCTC others(16): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0008 | 2 | 410 | 0.0049 | 23 | c.-34 others(32): Show |
SH2D2A | ENSG00000027869.12 | transcript | ENST00000368199.8 | protein_coding | 200 | chr1 | TogoVar | ||||||
SH2D7_chr15_78087561_78109362 | 78089517 | G | GTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG03017.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0002c0002t0001g0004a0002c0002t0001g0072 | 8 | 432 | 0.0185 | 23 | c.-30 others(34): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 3043 | chr15 | TogoVar | ||||||
SH3BP2_chr4_2788085_2846096 | 2836028 | T | TGCTTTAT others(16): Show |
3_prime_UTR_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0184 | 1 | 378 | 0.0027 | 23 | c.*21 others(34): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 13/13 | 2218 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
SH3BP4_chr2_234947017_235060714 | 235036740 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03669.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0064a0001c0002t0003g0221 | 2 | 348 | 0.0058 | 23 | c.118 others(40): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3BP5L_chr1_248805446_248830915 | 248829724 | T | TCCCCTCT others(16): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 412 | 0.0024 | 23 | c.-43 others(34): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3810 | chr1 | TogoVar | ||||||
SH3BP5L_chr1_248805446_248830915 | 248829745 | T | TCCCCTCT others(16): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 412 | 0.0024 | 23 | c.-43 others(34): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3831 | chr1 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15320605 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 | 1 | 376 | 0.0027 | 23 | c.201 others(40): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
SH3D19_chr4_151115281_151330605 | 151165360 | G | GAAGGGAA others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0117 | 1 | 282 | 0.0036 | 23 | c.164 others(40): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 8/19 | chr4 | TogoVar | ||||||
SH3D21_chr1_36301368_36326347 | 36313972 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00597.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0092others(17): Show | 29 | 376 | 0.0771 | 23 | c.769 others(40): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |