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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SENP7_chr3_101319205_101518212 | 101513213 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01255.hp2 others(6): Show |
a0003a0006 | a0003c0004a0006c0010 | a0003c0004t0002a0006c0010t0002 | a0003c0004t0002g0092 a0003c0004t0002g0094 a0003c0004t0002g0097 others(6): Show |
9 | 370 | 0.0243 | -5 | c.-88 others(12): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 2 | chr3 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13325895 | CAAAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG01975.hp2 others(16): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0004a0001c0004t0001 | a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0108 others(13): Show |
19 | 378 | 0.0503 | -5 | c.751 others(22): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13325946 | CAAAAA | C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0150 a0001c0001t0001g0153 others(4): Show |
8 | 378 | 0.0212 | -5 | c.751 others(22): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13325960 | AAAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(140): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(92): Show |
143 | 378 | 0.3783 | -5 | c.751 others(22): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13328034 | GTATCT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(187): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(127): Show |
190 | 378 | 0.5027 | -5 | c.751 others(20): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109539376 | AAATGG | A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG00741.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 a0001c0001t0003g0028 a0001c0001t0003g0029 others(10): Show |
13 | 404 | 0.0322 | -5 | c.*49 others(16): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 3422 | chr2 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109583175 | TTAAAC | T | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0086 others(5): Show |
8 | 404 | 0.0198 | -5 | c.413 others(22): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109618015 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01255.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 others(21): Show |
24 | 404 | 0.0594 | -5 | c.-41 others(16): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 4050 | chr2 | TogoVar | |||||||
SEPTIN11_chr4_76944752_77043615 | 76992376 | GAACTT | G | intron_variant | MODIFIER | HG02074.hp2 HG02129.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0034 a0001c0001t0001g0305 a0001c0001t0023g0304 |
3 | 370 | 0.0081 | -5 | c.28- others(20): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN11_chr4_76944752_77043615 | 77012096 | TAAAAC | T | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01884.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(7): Show | a0001c0001t0003g0008 a0001c0001t0003g0031 a0001c0001t0003g0032 others(32): Show |
38 | 370 | 0.1027 | -5 | c.525 others(20): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN11_chr4_76944752_77043615 | 77034590 | GTTTTA | G | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01884.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017 others(38): Show |
44 | 370 | 0.1189 | -5 | c.*98 others(13): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 10/10 | 98 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SEPTIN14_chr7_55788540_55867752 | 55819242 | ATGAAT | A | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0032 a0001c0001t0003g0038 a0001c0001t0003g0156 others(1): Show |
4 | 390 | 0.0103 | -5 | c.721 others(18): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55857490 | GAGGGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01123.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0003others(1): Show | a0001c0001t0002g0030 a0001c0001t0002g0148 a0001c0001t0002g0153 others(8): Show |
11 | 390 | 0.0282 | -5 | c.54+ others(20): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55857545 | AGGAGG | A | intron_variant | MODIFIER | HG01123.hp2 HG02257.hp2 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0003a0002c0002t0011 | a0001c0001t0006g0099 a0002c0002t0003g0007 a0002c0002t0011g0005 others(3): Show |
6 | 390 | 0.0154 | -5 | c.54+ others(20): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
SEPTIN2_chr2_241310925_241359027 | 241317750 | TTCCGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0005others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0006t0002others(3): Show | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0044 others(49): Show |
59 | 408 | 0.1446 | -5 | c.-18 others(22): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
SEPTIN2_chr2_241310925_241359027 | 241338713 | TATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(1): Show | a0001c0001t0002g0016 a0001c0001t0006g0050 a0001c0001t0006g0051 others(23): Show |
32 | 408 | 0.0784 | -5 | c.594 others(20): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SEPTIN2_chr2_241310925_241359027 | 241338719 | ATATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp2 others(19): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0023others(1): Show | a0001c0001t0003g0043 a0001c0001t0003g0219 a0001c0001t0003g0237 others(18): Show |
22 | 408 | 0.0539 | -5 | c.594 others(20): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SEPTIN2_chr2_241310925_241359027 | 241338967 | AAATAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00639.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0189 a0001c0001t0007g0004 a0001c0001t0007g0035 others(21): Show |
30 | 408 | 0.0735 | -5 | c.594 others(22): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SEPTIN2_chr2_241310925_241359027 | 241345437 | GACTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(1): Show | a0001c0001t0002g0016 a0001c0001t0006g0050 a0001c0001t0006g0051 others(23): Show |
32 | 408 | 0.0784 | -5 | c.843 others(20): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SEPTIN2_chr2_241310925_241359027 | 241348745 | CAATTT | C | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011 | a0001c0001t0010g0072 a0001c0001t0011g0019 a0001c0001t0011g0071 others(2): Show |
6 | 408 | 0.0147 | -5 | c.984 others(20): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SEPTIN3_chr22_41964443_42003221 | 41964817 | CTGGAG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(51): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0008others(1): Show | a0001c0001t0001a0002c0002t0001a0006c0008t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0233 a0001c0001t0001g0235 others(47): Show |
54 | 360 | 0.1500 | -5 | c.-48 others(16): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 4625 | chr22 | TogoVar | |||||||
SEPTIN3_chr22_41964443_42003221 | 42002845 | CTACTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(164): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(143): Show |
167 | 360 | 0.4639 | -5 | c.*58 others(16): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 4625 | chr22 | TogoVar | |||||||
SEPTIN4_chr17_58515256_58549328 | 58524563 | TTCTTA | T | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03579.hp1 others(1): Show |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0024 a0003c0009t0001g0178 |
4 | 360 | 0.0111 | -5 | c.221 others(22): Show |
SEPTIN4 | ENSG00000108387.16 | transcript | ENST00000672673.2 | protein_coding | 7/13 | chr17 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19712694 | CTTTTT | C | upstream_gene_variant | MODIFIER | NA18951.hp1 NA18964.hp1 NA18998.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0005g0009 |
7 | 384 | 0.0182 | -5 | c.-18 others(16): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 1808 | chr22 | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119617144 | GTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0224 | 1 | 252 | 0.0040 | -5 | c.*29 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 11/11 | 8227 | chrX | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119621444 | CTGGTG | C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 252 | 0.0040 | -5 | c.*42 others(22): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 10/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119624164 | TTTTTG | T | intron_variant | MODIFIER | HG03516.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0030 | a0001c0001t0002g0179 a0001c0002t0030g0068 |
2 | 252 | 0.0079 | -5 | c.*41 others(22): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 10/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119696237 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02723.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0002g0170 others(12): Show |
15 | 252 | 0.0595 | -5 | c.-31 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 3070 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119696292 | TGGCTA | T | upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 252 | 0.0040 | -5 | c.-31 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 3125 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119696332 | TGCCTC | T | upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 252 | 0.0040 | -5 | c.-32 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 3165 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119696603 | ATGTTT | A | upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 252 | 0.0040 | -5 | c.-35 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 3436 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119696710 | GTATTT | G | upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 252 | 0.0040 | -5 | c.-36 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 3543 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119696848 | AGTGGG | A | upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 252 | 0.0040 | -5 | c.-37 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 3681 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119697408 | GAGAAA | G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(45): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0051 others(45): Show |
48 | 252 | 0.1905 | -5 | c.-43 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 4241 | chrX | TogoVar | |||||||
SEPTIN7_chr7_35796057_35912110 | 35836933 | GTAACT | G | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG01891.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0013a0001c0005t0013 | a0001c0001t0013g0044 a0001c0001t0013g0045 a0001c0001t0013g0046 others(3): Show |
6 | 346 | 0.0173 | -5 | c.169 others(22): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN7_chr7_35796057_35912110 | 35837419 | CAGGAT | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG02132.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0128 a0001c0001t0002g0140 a0001c0001t0002g0141 others(5): Show |
8 | 346 | 0.0231 | -5 | c.169 others(22): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN7_chr7_35796057_35912110 | 35839523 | TTTATG | T | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0289 a0001c0001t0002g0159 a0001c0001t0002g0162 others(3): Show |
6 | 346 | 0.0173 | -5 | c.169 others(22): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77279254 | TTTTTC | T | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02886.hp2 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0035others(2): Show | a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0009g0144 others(3): Show |
6 | 150 | 0.0400 | -5 | c.-22 others(16): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2244 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77280944 | GGCGCC | G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01099.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 others(29): Show |
32 | 150 | 0.2133 | -5 | c.-59 others(14): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 554 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77302535 | GGGCGT | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0002g0131 a0001c0001t0005g0019 a0001c0001t0006g0011 others(12): Show |
15 | 150 | 0.1000 | -5 | c.20- others(20): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77345931 | GTTGTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(113): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 others(113): Show |
116 | 150 | 0.7733 | -5 | c.76+ others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77407282 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG02257.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0044 a0001c0001t0001g0092 a0001c0001t0001g0121 others(26): Show |
29 | 150 | 0.1933 | -5 | c.721 others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77412129 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0130 a0001c0001t0005g0023 a0001c0001t0007g0146 others(6): Show |
9 | 150 | 0.0600 | -5 | c.721 others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77431000 | AAAAAG | A | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG02040.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0085 others(13): Show |
16 | 150 | 0.1067 | -5 | c.721 others(24): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77434438 | TTGTTG | T | intron_variant | MODIFIER | HG03017.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0006 a0001c0001t0006g0066 |
2 | 150 | 0.0133 | -5 | c.721 others(24): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77345931 | GTTGTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(121): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0023 others(121): Show |
124 | 158 | 0.7848 | -5 | c.22+ others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77407282 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG02257.hp1 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0033 a0001c0001t0001g0147 a0001c0001t0002g0155 others(24): Show |
27 | 158 | 0.1709 | -5 | c.667 others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77412129 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02717.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0018a0001c0001t0038others(5): Show | a0001c0001t0002g0155 a0001c0001t0018g0101 a0001c0001t0038g0106 others(5): Show |
8 | 158 | 0.0506 | -5 | c.667 others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77431000 | AAAAAG | A | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02040.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0038 others(12): Show |
15 | 158 | 0.0949 | -5 | c.667 others(24): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77434438 | TTGTTG | T | intron_variant | MODIFIER | HG03017.hp1 HG03654.hp1 HG04115.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0087 a0001c0001t0004g0031 a0001c0001t0004g0081 others(2): Show |
5 | 158 | 0.0317 | -5 | c.667 others(24): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |