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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRRM4_chr12_118976541_119168051 | 119163280 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02895.hp1 others(9): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0014a0001c0001t0022a0001c0001t0039others(7): Show | a0001c0001t0014g0084 a0001c0001t0022g0319 a0001c0001t0039g0316 others(9): Show |
12 | 328 | 0.0366 | 8 | c.*64 others(19): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 230 | chr12 | TogoVar | |||||||
SRRM4_chr12_118976541_119168051 | 119164561 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG02135.hp1 HG02698.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0026a0001c0001t0050a0001c0001t0101others(4): Show | a0001c0001t0026g0117 a0001c0001t0050g0071 a0001c0001t0101g0192 others(5): Show |
8 | 328 | 0.0244 | 8 | c.*77 others(19): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1511 | chr12 | TogoVar | |||||||
SRRM5_chr19_43607088_43619498 | 43609359 | G | GGAGAGAG others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02809.hp2 others(4): Show |
a0002a0008a0012 | a0002c0002a0008c0007a0012c0025 | a0002c0002t0001a0008c0007t0001a0012c0025t0001 | a0002c0002t0001g0000 a0008c0007t0001g0000 a0012c0025t0001g0000 |
7 | 416 | 0.0168 | 8 | c.-27 others(19): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2728 | chr19 | TogoVar | |||||||
SRSF11_chr1_70216380_70258052 | 70254510 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01358.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(13): Show |
17 | 338 | 0.0503 | 8 | c.*37 others(19): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 1459 | chr1 | TogoVar | |||||||
SRSF12_chr6_89090959_89123071 | 89092206 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00741.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019 | a0001c0001t0001g0004 a0001c0001t0004g0006 a0001c0001t0004g0019 others(5): Show |
12 | 376 | 0.0319 | 8 | c.*63 others(19): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 3752 | chr6 | TogoVar | |||||||
SRSF1_chr17_57995919_58012246 | 57996483 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02280.hp2 HG02630.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0026g0026 |
14 | 342 | 0.0409 | 8 | c.*89 others(19): Show |
SRSF1 | ENSG00000136450.13 | transcript | ENST00000258962.5 | protein_coding | 4435 | chr17 | TogoVar | |||||||
SRSF1_chr17_57995919_58012246 | 57996483 | T | TTAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0006 a0001c0001t0012g0012 |
7 | 342 | 0.0205 | 8 | c.*89 others(19): Show |
SRSF1 | ENSG00000136450.13 | transcript | ENST00000258962.5 | protein_coding | 4435 | chr17 | TogoVar | |||||||
SRSF4_chr1_29142743_29186900 | 29175694 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01433.hp1 HG01515.hp1 others(13): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0005c0005t0001 | a0003c0003t0001g0027 a0003c0003t0001g0264 a0003c0003t0001g0265 others(12): Show |
16 | 368 | 0.0435 | 8 | c.107 others(25): Show |
SRSF4 | ENSG00000116350.18 | transcript | ENST00000373795.7 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SRSF6_chr20_43452896_43469243 | 43456862 | C | CTTCCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp2 others(7): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0004a0001c0005t0017a0001c0006t0024others(1): Show | a0001c0005t0004g0012 a0001c0005t0004g0040 a0001c0005t0017g0012 others(3): Show |
10 | 464 | 0.0216 | 8 | c.-11 others(19): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 1033 | chr20 | TogoVar | |||||||
SRSF6_chr20_43452896_43469243 | 43466904 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 HG02965.hp2 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0035g0003 others(2): Show |
7 | 464 | 0.0151 | 8 | c.*58 others(19): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 2662 | chr20 | TogoVar | |||||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02074.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0022 | a0001c0001t0014g0000 a0001c0001t0022g0000 |
9 | 402 | 0.0224 | 8 | c.*23 others(19): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SS18L1_chr20_62138769_62187514 | 62157876 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(40): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0106 a0001c0001t0001g0225 a0001c0001t0001g0268 others(40): Show |
43 | 316 | 0.1361 | 8 | c.70- others(21): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62167038 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0010a0001c0002t0014others(1): Show | a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0271 others(5): Show |
8 | 316 | 0.0253 | 8 | c.916 others(25): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L2_chr3_42585860_42601934 | 42591173 | A | ACGTCACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02451.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 6 | 388 | 0.0155 | 8 | c.69+ others(21): Show |
SS18L2 | ENSG00000008324.12 | transcript | ENST00000011691.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SS18_chr18_26011253_26095613 | 26050909 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0274 a0001c0001t0001g0283 others(15): Show |
18 | 318 | 0.0566 | 8 | c.607 others(25): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
SS18_chr18_26011253_26095613 | 26066600 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19001.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0004g0074 |
3 | 318 | 0.0094 | 8 | c.232 others(25): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445136 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0116 a0001c0001t0002g0104 a0001c0001t0002g0152 others(15): Show |
18 | 206 | 0.0874 | 8 | c.802 others(25): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445138 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(5): Show | a0001c0002t0001g0003 a0001c0002t0001g0023 a0001c0002t0001g0088 others(14): Show |
17 | 206 | 0.0825 | 8 | c.802 others(25): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81488010 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG04115.hp2 NA18953.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0015a0001c0002t0037others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0067 a0001c0002t0015g0093 others(2): Show |
5 | 206 | 0.0243 | 8 | c.432 others(25): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81489101 | G | GCTATTCA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0013a0001c0002t0049a0001c0002t0051others(1): Show | a0001c0002t0013g0008 a0001c0002t0013g0044 a0001c0002t0013g0194 others(3): Show |
6 | 206 | 0.0291 | 8 | c.432 others(23): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81493251 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02976.hp2 NA18984.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0003g0070 a0001c0001t0004g0081 a0001c0001t0008g0135 others(3): Show |
6 | 206 | 0.0291 | 8 | c.373 others(25): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501212 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 NA18950.hp2 NA18992.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0011a0001c0002t0022 | a0001c0001t0002g0104 a0001c0002t0011g0165 a0001c0002t0022g0073 |
3 | 206 | 0.0146 | 8 | c.373 others(27): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501268 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024 | a0001c0001t0003g0178 a0001c0001t0024g0037 |
2 | 206 | 0.0097 | 8 | c.373 others(27): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81542817 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0001t0012others(7): Show | a0001c0001t0005g0045 a0001c0001t0009g0034 a0001c0001t0012g0018 others(13): Show |
16 | 206 | 0.0777 | 8 | c.283 others(27): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81542829 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01167.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(15): Show | a0001c0001t0002g0124 a0001c0001t0002g0149 a0001c0001t0002g0201 others(27): Show |
30 | 206 | 0.1456 | 8 | c.283 others(27): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81547036 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01496.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0040others(2): Show | a0001c0001t0004g0007 a0001c0001t0004g0155 a0001c0001t0004g0156 others(7): Show |
10 | 206 | 0.0485 | 8 | c.283 others(27): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81591853 | G | GAGGAGCC others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01256.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0019others(2): Show | a0001c0001t0006g0137 a0001c0001t0008g0130 a0001c0001t0008g0134 others(7): Show |
10 | 206 | 0.0485 | 8 | c.282 others(27): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81638621 | A | ATGATGAT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02647.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 others(2): Show |
5 | 206 | 0.0243 | 8 | c.136 others(25): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81667286 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0062 | a0001c0001t0016g0125 a0001c0001t0062g0083 |
2 | 206 | 0.0097 | 8 | c.63- others(25): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54276608 | C | CACAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00738.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0127 others(28): Show |
31 | 280 | 0.1107 | 8 | c.366 others(25): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 5/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54298930 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0118 others(11): Show |
14 | 280 | 0.0500 | 8 | c.277 others(27): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54327217 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(40): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0001g0081 others(40): Show |
43 | 280 | 0.1536 | 8 | c.277 others(27): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54334351 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0152 a0001c0001t0004g0154 a0001c0001t0006g0237 |
3 | 280 | 0.0107 | 8 | c.277 others(27): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54337485 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02300.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0018others(1): Show | a0001c0001t0004g0105 a0001c0001t0004g0154 a0001c0001t0005g0116 others(2): Show |
5 | 280 | 0.0179 | 8 | c.277 others(27): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54384105 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01943.hp1 HG02083.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0008a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 others(9): Show |
12 | 280 | 0.0429 | 8 | c.276 others(27): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSB_chr2_169793871_169817064 | 169800534 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00639.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0002 | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0096 others(10): Show |
29 | 426 | 0.0681 | 8 | c.-9- others(21): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SSC4D_chr7_76384337_76414697 | 76405271 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG02015.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0028others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0028t0001others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0156 others(14): Show |
19 | 388 | 0.0490 | 8 | c.-66 others(23): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76405271 | T | TTTTATAT others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02273.hp1 HG02895.hp1 others(6): Show |
a0001a0013 | a0001c0004a0001c0005a0013c0029 | a0001c0004t0001a0001c0004t0002a0001c0005t0003others(1): Show | a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 others(6): Show |
9 | 388 | 0.0232 | 8 | c.-66 others(23): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76405323 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01081.hp2 others(22): Show |
a0001a0002a0006others(2): Show | a0001c0005a0002c0002a0006c0009others(2): Show | a0001c0005t0003a0002c0002t0002a0006c0009t0003others(2): Show | a0001c0005t0003g0077 a0001c0005t0003g0079 a0001c0005t0003g0080 others(22): Show |
25 | 388 | 0.0644 | 8 | c.-66 others(23): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55490435 | C | CCCAAGCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0006a0001c0010others(67): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0002others(73): Show | a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0229 others(222): Show |
227 | 412 | 0.5510 | 8 | c.586 others(21): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495216 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02886.hp1 others(1): Show |
a0002a0014 | a0002c0002a0014c0084 | a0002c0002t0001a0002c0002t0002a0014c0084t0001 | a0002c0002t0001g0213 a0002c0002t0002g0187 a0002c0002t0002g0215 others(1): Show |
4 | 412 | 0.0097 | 8 | c.138 others(25): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55522134 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(21): Show |
a0002a0009a0011others(1): Show | a0002c0002a0002c0003a0002c0096others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(6): Show | a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0187 others(21): Show |
24 | 412 | 0.0583 | 8 | c.*31 others(19): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 3036 | chr19 | TogoVar | |||||||
SSH1_chr12_108773191_108862583 | 108859300 | T | TCTTCCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00735.hp2 others(34): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0026others(2): Show | a0001c0001t0001a0001c0001t0025a0001c0001t0066others(13): Show | a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0025g0302 others(32): Show |
37 | 332 | 0.1115 | 8 | c.-18 others(19): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 1718 | chr12 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29644797 | G | GATAAATA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(5): Show |
a0001a0006a0012others(1): Show | a0001c0001a0006c0008a0012c0013others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0027others(3): Show | a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 others(5): Show |
8 | 232 | 0.0345 | 8 | c.142 others(27): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29680551 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp1 HG01261.hp1 others(5): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0015 | a0001c0001t0001a0003c0004t0004a0008c0015t0001 | a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0051 others(5): Show |
8 | 232 | 0.0345 | 8 | c.480 others(25): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 6/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29696208 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01256.hp2 others(8): Show |
a0001a0010 | a0001c0001a0010c0018 | a0001c0001t0001a0001c0001t0002a0010c0018t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0020 others(8): Show |
11 | 232 | 0.0474 | 8 | c.293 others(23): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29708993 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG02559.hp2 others(3): Show |
a0001a0007a0012 | a0001c0001a0007c0009a0012c0013 | a0001c0001t0001a0007c0009t0001a0012c0013t0023 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0024 others(3): Show |
6 | 232 | 0.0259 | 8 | c.189 others(25): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATAGAGA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0136 |
2 | 232 | 0.0086 | 8 | c.189 others(25): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATAGA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0053 |
2 | 232 | 0.0086 | 8 | c.189 others(25): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01433.hp2 HG02698.hp1 others(2): Show |
a0001a0007a0010 | a0001c0001a0007c0009a0010c0018 | a0001c0001t0008a0001c0001t0024a0001c0001t0027others(2): Show | a0001c0001t0008g0104 a0001c0001t0024g0045 a0001c0001t0027g0128 others(2): Show |
5 | 232 | 0.0216 | 8 | c.189 others(25): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar |