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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH2B2_chr7_102281868_102326711 | 102291577 | GGTTAA | G | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02965.hp2 others(7): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0004a0006c0006others(1): Show | a0001c0001t0001a0005c0004t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 others(7): Show |
10 | 406 | 0.0246 | -5 | c.-30 others(22): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2B2_chr7_102281868_102326711 | 102292649 | GTTCAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0005a0001c0009others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(350): Show |
366 | 406 | 0.9015 | -5 | c.-30 others(22): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102305252 | TTTTTA | T | intron_variant | MODIFIER | HG02257.hp2 HG02602.hp2 HG02717.hp2 others(13): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0032 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0100 a0001c0001t0002g0098 a0001c0001t0002g0238 others(13): Show |
16 | 406 | 0.0394 | -5 | c.730 others(22): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2B3_chr12_111400923_111456623 | 111447547 | ATGGGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(205): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0017others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(21): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(167): Show |
208 | 326 | 0.6380 | -5 | c.123 others(20): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124344212 | GTCCAT | G | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 318 | 0.0031 | -5 | c.-24 others(16): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2350 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124350242 | TATATA | T | intron_variant | MODIFIER | HG02738.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0275 |
2 | 318 | 0.0063 | -5 | c.137 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350811 | GATATA | G | intron_variant | MODIFIER | HG02109.hp1 HG02922.hp1 NA18978.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0012 | a0001c0001t0001g0030 a0001c0001t0002g0129 a0001c0003t0012g0031 |
3 | 318 | 0.0094 | -5 | c.137 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350839 | GATATA | G | intron_variant | MODIFIER | HG02896.hp1 NA18975.hp2 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0117 a0001c0001t0005g0015 |
3 | 318 | 0.0094 | -5 | c.137 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350895 | GATATA | G | intron_variant | MODIFIER | HG02602.hp1 HG03225.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0166 others(2): Show |
5 | 318 | 0.0157 | -5 | c.137 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350946 | GATATA | G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 318 | 0.0031 | -5 | c.137 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124360445 | TAAAAA | T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 318 | 0.0031 | -5 | c.138 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124371315 | GTTTAT | G | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 318 | 0.0031 | -5 | c.347 others(18): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1B_chr1_162390268_162417136 | 162403512 | ATATAT | A | intron_variant | MODIFIER | HG01496.hp1 NA18963.hp1 NA19080.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0250 others(1): Show |
4 | 424 | 0.0094 | -5 | c.135 others(20): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6749483 | CAGTCG | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02717.hp1 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0025 a0004c0006t0001g0152 a0004c0006t0001g0153 others(2): Show |
6 | 380 | 0.0158 | -5 | c.*31 others(16): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 2676 | chr19 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127756640 | CTTTTT | C | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp1 HG02165.hp1 others(8): Show |
a0003a0012 | a0003c0007a0003c0019a0012c0029 | a0003c0007t0001a0003c0019t0001a0012c0029t0001 | a0003c0007t0001g0003 a0003c0007t0001g0008 a0003c0007t0001g0028 others(5): Show |
11 | 332 | 0.0331 | -5 | c.555 others(22): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19315075 | TAAAAA | T | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0183 a0001c0003t0006g0184 a0001c0003t0006g0185 others(2): Show |
5 | 354 | 0.0141 | -5 | c.-20 others(24): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19332691 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01106.hp2 others(30): Show |
a0001a0002a0006others(4): Show | a0001c0003a0002c0005a0006c0012others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(12): Show | a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0100 others(30): Show |
33 | 354 | 0.0932 | -5 | c.182 others(20): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19394761 | GAAAGT | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(119): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(14): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(26): Show | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0020 others(116): Show |
122 | 354 | 0.3446 | -5 | c.*12 others(14): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 10/10 | 126 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80542394 | CTATCT | C | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp2 HG02615.hp1 others(5): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0008others(3): Show | a0001c0001t0003a0002c0002t0001a0006c0008t0005others(3): Show | a0001c0001t0003g0287 a0002c0002t0001g0285 a0002c0002t0001g0288 others(5): Show |
8 | 322 | 0.0248 | -5 | c.184 others(22): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80549202 | ATTGTG | A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01109.hp1 others(17): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0140 others(17): Show |
20 | 322 | 0.0621 | -5 | c.184 others(24): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80566090 | CAAAAA | C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02630.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0007a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0007g0200 a0001c0001t0007g0201 a0002c0002t0001g0288 others(4): Show |
7 | 322 | 0.0217 | -5 | c.185 others(22): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572981 | TATATA | T | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 NA18998.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0190 a0002c0002t0002g0260 a0002c0002t0002g0261 |
3 | 322 | 0.0093 | -5 | c.495 others(22): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80597671 | TAAATA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0014t0001g0272 others(52): Show |
55 | 322 | 0.1708 | -5 | c.644 others(22): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80633384 | TCATAA | T | intron_variant | MODIFIER | HG02818.hp1 HG03195.hp2 NA18522.hp1 |
a0005a0007a0012 | a0005c0005a0007c0015a0012c0019 | a0005c0005t0006a0007c0015t0001a0012c0019t0001 | a0005c0005t0006g0204 a0007c0015t0001g0306 a0012c0019t0001g0281 |
3 | 322 | 0.0093 | -5 | c.989 others(20): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH3BGRL2_chr6_79626329_79708655 | 79675824 | AGTTGT | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0065 a0001c0001t0002g0006 a0001c0001t0002g0007 others(68): Show |
74 | 348 | 0.2126 | -5 | c.231 others(22): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BGRL_chrX_81197102_81303547 | 81218326 | TTATAG | T | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 243 | 0.0041 | -5 | c.45+ others(22): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 1/3 | chrX | TogoVar | |||||||
SH3BGRL_chrX_81197102_81303547 | 81249108 | GAAAAC | G | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0002g0021 others(5): Show |
8 | 243 | 0.0329 | -5 | c.46- others(22): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BGRL_chrX_81197102_81303547 | 81286498 | CAAAAA | C | intron_variant | MODIFIER | NA18984.hp1 NA19086.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0153 a0001c0001t0001g0194 a0001c0001t0002g0155 |
3 | 243 | 0.0124 | -5 | c.312 others(22): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BGR_chr21_39446970_39520504 | 39457289 | TTATAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0238 a0001c0001t0002g0251 a0001c0001t0002g0276 others(43): Show |
48 | 302 | 0.1589 | -5 | c.46- others(20): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SH3BGR_chr21_39446970_39520504 | 39508954 | CTTGAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(109): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(103): Show |
112 | 302 | 0.3709 | -5 | c.406 others(18): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SH3BGR_chr21_39446970_39520504 | 39518369 | AAAAAC | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01168.hp2 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0003c0003t0003others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0022 a0001c0001t0003g0023 others(15): Show |
19 | 302 | 0.0629 | -5 | c.*33 others(16): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 2866 | chr21 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235038268 | TATATA | T | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03195.hp2 others(2): Show |
a0001a0005 | a0001c0002a0001c0026a0005c0009 | a0001c0002t0004a0001c0026t0001a0005c0009t0001 | a0001c0002t0004g0286 a0001c0026t0001g0049 a0005c0009t0001g0131 others(2): Show |
5 | 348 | 0.0144 | -5 | c.119 others(22): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP5L_chr1_248805446_248830915 | 248827566 | AAAGAG | A | upstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0018 a0001c0001t0007g0177 a0001c0001t0020g0178 |
6 | 412 | 0.0146 | -5 | c.-21 others(16): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 1652 | chr1 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15250543 | ACCCCT | A | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0023 | a0001c0001t0010g0350 a0001c0001t0010g0351 a0001c0001t0010g0354 others(1): Show |
4 | 376 | 0.0106 | -5 | c.*55 others(16): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3809 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15306517 | CAAAAG | C | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp2 HG01433.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 a0001c0002t0002g0054 a0001c0002t0002g0084 |
3 | 376 | 0.0080 | -5 | c.202 others(22): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151135986 | AAAAAC | A | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG02055.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0003others(2): Show | a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0178 others(20): Show |
23 | 282 | 0.0816 | -5 | c.242 others(22): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 14/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151168022 | AAAAAC | A | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp2 HG03098.hp1 others(1): Show |
a0002a0004 | a0002c0003a0004c0014 | a0002c0003t0003a0004c0014t0003 | a0002c0003t0003g0022 a0002c0003t0003g0277 a0002c0003t0003g0278 others(1): Show |
4 | 282 | 0.0142 | -5 | c.153 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 7/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151185040 | GTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(138): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0028 others(138): Show |
141 | 282 | 0.5000 | -5 | c.193 others(22): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 3/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151204563 | TCAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(24): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0023 others(200): Show |
204 | 282 | 0.7234 | -5 | c.153 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151234735 | GTTTTT | G | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02615.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0275 a0001c0001t0002g0085 a0001c0001t0002g0130 others(15): Show |
18 | 282 | 0.0638 | -5 | c.113 others(22): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151275837 | TTATTA | T | intron_variant | MODIFIER | HG00140.hp2 HG01934.hp1 HG01943.hp2 others(11): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0189 a0001c0001t0001g0235 a0001c0002t0001g0249 others(10): Show |
14 | 282 | 0.0497 | -5 | c.112 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151275840 | TTATTA | T | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01258.hp1 others(22): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0153 others(22): Show |
25 | 282 | 0.0887 | -5 | c.112 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151282773 | CACAAG | C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02615.hp1 others(13): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 others(13): Show |
16 | 282 | 0.0567 | -5 | c.112 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151286983 | AATAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01192.hp2 others(24): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0153 others(23): Show |
27 | 282 | 0.0957 | -5 | c.112 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3GL1_chr19_4355370_4405547 | 4364727 | TTTTTG | T | intron_variant | MODIFIER | NA18970.hp1 NA18973.hp1 NA18981.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 a0001c0002t0001g0097 a0001c0002t0001g0143 others(3): Show |
6 | 358 | 0.0168 | -5 | c.332 others(20): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17615658 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 others(49): Show |
52 | 260 | 0.2000 | -5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622981 | CTTTCG | C | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0018 | a0001c0001t0002g0204 a0001c0001t0004g0209 a0001c0001t0018g0216 |
3 | 260 | 0.0115 | -5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622986 | GTTTCC | G | intron_variant | MODIFIER | NA18944.hp1 NA19009.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0002g0070 |
3 | 260 | 0.0115 | -5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17645151 | CTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01358.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0051 others(15): Show |
18 | 260 | 0.0692 | -5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17664328 | GAAATA | G | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0249 |
3 | 260 | 0.0115 | -5 | c.46- others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |