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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEPTIN7_chr7_35796057_35912110 | 35880179 | A | ATTTTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(133): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0028 others(129): Show |
136 | 344 | 0.3953 | 7 | c.630 others(22): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169679 | A | ATGTATAT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01192.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0145 others(20): Show |
23 | 346 | 0.0665 | 7 | c.-15 others(18): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1418 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169759 | G | GTATATTA | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0022 | a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0020g0077 others(1): Show |
4 | 355 | 0.0113 | 7 | c.-16 others(18): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1498 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169808 | A | ATATATTG | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0022 | a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0020g0077 others(1): Show |
4 | 364 | 0.0110 | 7 | c.-16 others(18): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1547 | chr6 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42559229 | T | TAAAAAAA | intron_variant | MODIFIER | NA18946.hp1 NA18955.hp1 NA18960.hp1 others(11): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0009 a0002c0002t0001g0043 a0002c0002t0001g0047 others(6): Show |
14 | 133 | 0.1053 | 7 | c.533 others(22): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERHL2_chr22_42548956_42579382 | 42571931 | T | TGGGGGCG | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0050 others(16): Show |
30 | 249 | 0.1205 | 7 | c.732 others(22): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC1_chr6_122438351_122476807 | 122441327 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01123.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0019 others(8): Show |
11 | 68 | 0.1618 | 7 | c.*37 others(18): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 2023 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122451776 | A | ATATATAT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00741.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003 a0001c0001t0002g0090 a0001c0001t0002g0091 others(4): Show |
19 | 88 | 0.2159 | 7 | c.760 others(20): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 6/9 | chr6 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31414421 | T | TGTGTGTG | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01167.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0004t0003others(8): Show | a0001c0001t0005g0236 a0001c0001t0009g0228 a0001c0001t0009g0229 others(28): Show |
31 | 68 | 0.4559 | 7 | c.39+ others(22): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31417852 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01433.hp1 HG01952.hp2 others(41): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0002c0006others(1): Show | a0001c0004t0003a0001c0004t0010a0002c0002t0008others(2): Show | a0001c0004t0003g0141 a0001c0004t0003g0154 a0001c0004t0003g0155 others(40): Show |
44 | 81 | 0.5432 | 7 | c.39+ others(22): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC3_chr20_44492441_44527070 | 44506584 | C | CAAAAAAA | intron_variant | MODIFIER | HG02015.hp2 HG02083.hp1 HG02148.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0009 a0001c0001t0002g0048 a0001c0001t0002g0158 others(5): Show |
13 | 182 | 0.0714 | 7 | c.783 others(22): Show |
SERINC3 | ENSG00000132824.14 | transcript | ENST00000342374.5 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
SERPINA9_chr14_94457721_94481197 | 94471740 | C | CCAAGATG | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp1 others(109): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0005a0001c0027others(11): Show | a0001c0002t0001a0001c0002t0003a0001c0005t0001others(14): Show | a0001c0002t0001g0269 a0001c0002t0003g0001 a0001c0002t0003g0004 others(62): Show |
112 | 462 | 0.2424 | 7 | c.-17 others(24): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINB10_chr18_63902958_63941111 | 63919236 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02074.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 a0002c0002t0002g0078 a0002c0002t0002g0079 |
9 | 193 | 0.0466 | 7 | c.373 others(22): Show |
SERPINB10 | ENSG00000242550.7 | transcript | ENST00000238508.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB5_chr18_63471958_63510085 | 63473975 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02572.hp1 others(3): Show |
a0002a0003 | a0002c0003a0002c0010a0003c0002 | a0002c0003t0002a0002c0010t0002a0003c0002t0002 | a0002c0003t0002g0113 a0002c0003t0002g0121 a0002c0010t0002g0006 others(3): Show |
6 | 153 | 0.0392 | 7 | c.-30 others(18): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 2982 | chr18 | TogoVar | |||||||
SERPINB5_chr18_63471958_63510085 | 63480441 | T | TGAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG02970.hp2 HG03579.hp1 others(1): Show |
a0003a0005 | a0003c0002a0003c0009a0005c0006 | a0003c0002t0013a0003c0009t0022a0005c0006t0023 | a0003c0002t0013g0206 a0003c0002t0013g0207 a0003c0009t0022g0135 others(1): Show |
4 | 408 | 0.0098 | 7 | c.-8+ others(22): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63786063 | A | ATATGTAT | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(2): Show | a0001c0001t0003g0073 a0001c0001t0003g0110 a0001c0001t0003g0216 others(4): Show |
7 | 429 | 0.0163 | 7 | c.168 others(24): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | chr18 | TogoVar | |||||||
SERPINB8_chr18_63965081_63994374 | 63988872 | C | CACTTTAT | 3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG02109.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0016a0001c0001t0028a0001c0004t0023others(5): Show | a0001c0001t0016g0163 a0001c0001t0028g0001 a0001c0004t0023g0024 others(6): Show |
9 | 464 | 0.0194 | 7 | c.*16 others(18): Show |
SERPINB8 | ENSG00000166401.15 | transcript | ENST00000397985.7 | protein_coding | 7/7 | 1601 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SERPINE2_chr2_223970045_224044286 | 224005065 | T | TATATATA | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01243.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0191 a0001c0001t0002g0001 others(5): Show |
9 | 260 | 0.0346 | 7 | c.-22 others(24): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SERPINE2_chr2_223970045_224044286 | 224044128 | T | TTTCTTTC | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01952.hp1 HG01952.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0010 a0001c0001t0001g0147 a0001c0001t0001g0176 others(2): Show |
6 | 210 | 0.0286 | 7 | c.-50 others(18): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 4843 | chr2 | TogoVar | |||||||
SERPINI1_chr3_167730721_167830569 | 167778198 | C | CACATTTT | intron_variant | MODIFIER | HG01433.hp1 NA19030.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0195 a0001c0004t0001g0198 |
2 | 230 | 0.0087 | 7 | c.-18 others(26): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERTAD1_chr19_40416589_40430992 | 40426758 | T | TTTATTTA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005 | a0001c0003t0004g0004 a0001c0003t0005g0007 |
9 | 330 | 0.0273 | 7 | c.-89 others(16): Show |
SERTAD1 | ENSG00000197019.5 | transcript | ENST00000357949.5 | protein_coding | 767 | chr19 | TogoVar | |||||||
SERTAD3_chr19_40435844_40449335 | 40436125 | T | TATCTATC | downstream_gene_variant | MODIFIER | NA18942.hp2 NA18946.hp1 NA19066.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 5 | 376 | 0.0133 | 7 | c.*53 others(18): Show |
SERTAD3 | ENSG00000167565.13 | transcript | ENST00000322354.4 | protein_coding | 4718 | chr19 | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 108987806 | C | CTTTTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02486.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0167 others(9): Show |
12 | 93 | 0.1290 | 7 | c.157 others(24): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179185785 | G | GTATATTA | intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0005 |
3 | 268 | 0.0112 | 7 | c.56- others(22): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179230113 | C | CTTTTTTT | intron_variant | MODIFIER | HG01496.hp2 HG01975.hp1 HG02129.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0064 | a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0220 others(3): Show |
6 | 27 | 0.2222 | 7 | c.-26 others(26): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179236160 | T | TTAAGATA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(114): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(30): Show | a0001c0001t0004g0001 a0001c0001t0004g0040 a0001c0001t0004g0041 others(113): Show |
117 | 272 | 0.4301 | 7 | c.-26 others(26): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44885842 | T | TAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG02004.hp1 others(2): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0003c0003t0008a0003c0003t0013others(1): Show | a0003c0003t0001g0047 a0003c0003t0001g0109 a0003c0003t0008g0009 others(2): Show |
5 | 82 | 0.0610 | 7 | c.540 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETD1B_chr12_121799009_121837656 | 121835028 | T | TTTCTTTC | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02280.hp2 NA19055.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0002a0001c0003t0003a0001c0009t0008others(2): Show | a0001c0001t0002g0073 a0001c0003t0003g0160 a0001c0009t0008g0148 others(2): Show |
5 | 243 | 0.0206 | 7 | c.*47 others(18): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 2373 | chr12 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47040569 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01169.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0001a0003c0003others(4): Show | a0001c0005t0004a0001c0005t0005a0002c0001t0001others(7): Show | a0001c0005t0004g0262 a0001c0005t0004g0265 a0001c0005t0004g0266 others(33): Show |
36 | 113 | 0.3186 | 7 | c.723 others(26): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 17/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47050723 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(25): Show |
a0002a0008a0018 | a0002c0001a0008c0019a0018c0022 | a0002c0001t0001a0008c0019t0001a0018c0022t0001 | a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0153 others(25): Show |
28 | 118 | 0.2373 | 7 | c.696 others(26): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47058440 | C | CAAAAAAA | intron_variant | MODIFIER | HG02280.hp2 HG03139.hp2 NA19030.hp1 others(3): Show |
a0001a0004 | a0001c0005a0004c0004 | a0001c0005t0001a0004c0004t0001 | a0001c0005t0001g0120 a0004c0004t0001g0116 a0004c0004t0001g0119 others(3): Show |
6 | 109 | 0.0550 | 7 | c.629 others(24): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 14/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47150028 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(117): Show |
a0001a0002a0004others(9): Show | a0001c0005a0002c0001a0002c0016others(12): Show | a0001c0005t0001a0002c0001t0001a0002c0001t0002others(15): Show | a0001c0005t0001g0120 a0002c0001t0001g0149 a0002c0001t0001g0150 others(117): Show |
120 | 211 | 0.5687 | 7 | c.71+ others(24): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SETD3_chr14_99392748_99485859 | 99411128 | A | AAGAGTGC | intron_variant | MODIFIER | HG01099.hp2 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0197 a0001c0001t0001g0198 others(2): Show |
6 | 288 | 0.0208 | 7 | c.849 others(24): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 8/12 | chr14 | TogoVar | |||||||
SETD5_chr3_9392615_9483154 | 9413649 | G | GGGTGTGT | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00741.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(3): Show | a0001c0001t0001g0188 a0001c0001t0002g0190 a0001c0001t0026g0189 others(8): Show |
11 | 69 | 0.1594 | 7 | c.-17 others(28): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9426212 | C | CTTTTTTT | intron_variant | MODIFIER | HG03516.hp2 NA18945.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0108 |
3 | 18 | 0.1667 | 7 | c.-11 others(26): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150923910 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01074.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0150 others(3): Show |
6 | 16 | 0.3750 | 7 | c.-26 others(18): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 2452 | chr1 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150956091 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01978.hp2 HG02698.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0112 a0001c0001t0001g0124 others(10): Show |
13 | 202 | 0.0644 | 7 | c.233 others(26): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49439921 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00642.hp2 others(22): Show |
a0001a0002a0005 | a0001c0002a0001c0014a0002c0003others(1): Show | a0001c0002t0003a0001c0002t0008a0001c0002t0014others(4): Show | a0001c0002t0003g0001 a0001c0002t0003g0012 a0001c0002t0003g0225 others(21): Show |
25 | 54 | 0.4630 | 7 | c.-52 others(18): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 4352 | chr13 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49470966 | C | CTTTCTTT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00642.hp1 others(70): Show |
a0001a0003a0007others(1): Show | a0001c0002a0003c0004a0007c0009others(1): Show | a0001c0002t0004a0001c0002t0009a0001c0002t0022others(9): Show | a0001c0002t0004g0330 a0001c0002t0004g0334 a0001c0002t0004g0337 others(67): Show |
73 | 79 | 0.9241 | 7 | c.305 others(24): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49471935 | T | TATATATA | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG01123.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0086 others(19): Show |
22 | 241 | 0.0913 | 7 | c.305 others(24): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 5/13 | chr13 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49496830 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01081.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0008a0001c0002t0011a0002c0003t0008 | a0001c0002t0008g0270 a0001c0002t0008g0274 a0001c0002t0008g0276 others(6): Show |
10 | 84 | 0.1190 | 7 | c.*49 others(18): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 1828 | chr13 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132257276 | C | CTTTTCAT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(114): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0017a0002c0002others(24): Show | a0001c0001t0001a0001c0001t0028a0001c0001t0033others(30): Show | a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 others(113): Show |
117 | 360 | 0.3250 | 7 | c.*69 others(18): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 4079 | chr9 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29874550 | G | GTTTTTTT | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG02083.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0170 a0001c0001t0001g0180 others(4): Show |
7 | 55 | 0.1273 | 7 | c.210 others(24): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 12/17 | chr16 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26338867 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0226 others(32): Show |
35 | 99 | 0.3535 | 7 | c.201 others(26): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26361343 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(15): Show | a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0002g0077 others(20): Show |
23 | 93 | 0.2473 | 7 | c.260 others(26): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26385234 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0155 others(49): Show |
52 | 53 | 0.9811 | 7 | c.*49 others(18): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1639 | chr22 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26387726 | G | GTGTGTGT | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG01243.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(7): Show | a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 others(26): Show |
29 | 154 | 0.1883 | 7 | c.*74 others(18): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 4131 | chr22 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37961759 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00738.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0001t0001g0143 a0001c0002t0002g0006 a0001c0002t0002g0153 others(18): Show |
22 | 38 | 0.5789 | 7 | c.137 others(26): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3B3_chr16_70518816_70582668 | 70533624 | C | CTAATTGA | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0050 | a0001c0002t0006g0240 a0001c0002t0006g0241 a0001c0002t0050g0238 |
3 | 340 | 0.0088 | 7 | c.712 others(24): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31530203 | A | AAAAAAAT | intron_variant | MODIFIER | HG01934.hp2 HG02895.hp2 NA18979.hp2 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0006a0002c0025others(2): Show | a0001c0001t0001a0002c0006t0001a0002c0025t0001others(2): Show | a0001c0001t0001g0130 a0002c0006t0001g0024 a0002c0025t0001g0321 others(4): Show |
7 | 309 | 0.0227 | 7 | c.267 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 3/32 | chr22 | TogoVar |