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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERP2_chr13_44368824_44402714 | 44392196 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(61): Show |
86 | 105 | 0.8190 | 9 | c.158 others(26): Show |
SERP2 | ENSG00000151778.11 | transcript | ENST00000379179.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SERPINB12_chr18_63537369_63574329 | 63554047 | C | CCAGTTCC others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(65): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0031others(11): Show | a0001c0001t0002g0059 a0001c0001t0019g0202 a0001c0001t0031g0203 others(34): Show |
68 | 400 | 0.1700 | 9 | c.-18 others(26): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB5_chr18_63471958_63510085 | 63484741 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(5): Show |
11 | 141 | 0.0780 | 9 | c.168 others(24): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB6_chr6_2943159_2976567 | 2972632 | A | AAATGTAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(119): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0029 others(63): Show |
122 | 380 | 0.3211 | 9 | c.-11 others(20): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 1066 | chr6 | TogoVar | |||||||
SERPINB8_chr18_63965081_63994374 | 63987595 | C | CCTCTATG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0010others(23): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(92): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0021 others(162): Show |
211 | 464 | 0.4547 | 9 | c.*32 others(18): Show |
SERPINB8 | ENSG00000166401.15 | transcript | ENST00000397985.7 | protein_coding | 7/7 | 322 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SERPINC1_chr1_173898800_173922327 | 173907984 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01123.hp2 others(59): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0044 others(26): Show |
62 | 108 | 0.5741 | 9 | c.115 others(26): Show |
SERPINC1 | ENSG00000117601.15 | transcript | ENST00000367698.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SERPINC1_chr1_173898800_173922327 | 173909165 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02109.hp1 HG02486.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0069 others(8): Show |
14 | 313 | 0.0447 | 9 | c.115 others(26): Show |
SERPINC1 | ENSG00000117601.15 | transcript | ENST00000367698.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101138430 | T | TCGCGCCC others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(398): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(302): Show |
401 | 431 | 0.9304 | 9 | c.*99 others(19): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 9/9 | 1006 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SERPINE2_chr2_223970045_224044286 | 224005065 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01081.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0320 a0001c0001t0002g0321 others(1): Show |
5 | 256 | 0.0195 | 9 | c.-22 others(26): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SERTAD3_chr19_40435844_40449335 | 40443327 | C | CCACCCCG others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 9 | 376 | 0.0239 | 9 | c.-7+ others(22): Show |
SERTAD3 | ENSG00000167565.13 | transcript | ENST00000322354.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
SERTM2_chrX_111506645_111527399 | 111522687 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0010 others(2): Show |
9 | 158 | 0.0570 | 9 | c.*35 others(20): Show |
SERTM2 | ENSG00000260802.2 | transcript | ENST00000569275.2 | protein_coding | 289 | chrX | TogoVar | |||||||
SESN2_chr1_28254518_28287491 | 28262621 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG03098.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0009a0004c0008t0001 | a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0009g0014 others(1): Show |
6 | 150 | 0.0400 | 9 | c.90+ others(24): Show |
SESN2 | ENSG00000130766.5 | transcript | ENST00000253063.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SESTD1_chr2_179096678_179269832 | 179143069 | C | CTTTAGTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(152): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(40): Show | a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 others(151): Show |
155 | 272 | 0.5699 | 9 | c.849 others(24): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 9/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179201918 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02723.hp2 HG02738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0008a0001c0001t0022a0001c0001t0056others(2): Show | a0001c0001t0008g0030 a0001c0001t0008g0033 a0001c0001t0022g0031 others(3): Show |
6 | 156 | 0.0385 | 9 | c.-25 others(28): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179201936 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0005 |
3 | 272 | 0.0110 | 9 | c.-25 others(28): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44886754 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02622.hp1 HG02630.hp1 others(2): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0125 a0001c0001t0004g0006 a0001c0001t0005g0082 others(2): Show |
5 | 26 | 0.1923 | 9 | c.540 others(28): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44989868 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01978.hp2 others(4): Show |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0001a0003c0003t0008a0003c0003t0011others(3): Show | a0003c0003t0001g0109 a0003c0003t0008g0009 a0003c0003t0008g0051 others(4): Show |
7 | 119 | 0.0588 | 9 | c.400 others(30): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETD2_chr3_47011436_47169113 | 47040569 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02074.hp1 HG02486.hp1 others(3): Show |
a0001a0003 | a0001c0005a0003c0003 | a0001c0005t0001a0003c0003t0001 | a0001c0005t0001g0154 a0003c0003t0001g0274 a0003c0003t0001g0276 others(3): Show |
6 | 83 | 0.0723 | 9 | c.723 others(28): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 17/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47050723 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01070.hp1 others(16): Show |
a0002a0006 | a0002c0001a0002c0016a0006c0008 | a0002c0001t0001a0002c0001t0002a0002c0001t0005others(2): Show | a0002c0001t0001g0152 a0002c0001t0001g0157 a0002c0001t0001g0164 others(16): Show |
19 | 109 | 0.1743 | 9 | c.696 others(28): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
SETD5_chr3_9392615_9483154 | 9397651 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00544.hp1 HG02145.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0024 | a0001c0001t0016g0153 a0001c0001t0016g0154 a0001c0001t0024g0019 |
3 | 49 | 0.0612 | 9 | c.-47 others(18): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 1/23 | 31252 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SETD5_chr3_9392615_9483154 | 9426212 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 NA18942.hp2 NA18957.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0027a0004c0004t0019 | a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0126 others(2): Show |
5 | 20 | 0.2500 | 9 | c.-11 others(28): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SETD9_chr5_56904596_56922348 | 56908069 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02257.hp1 NA18953.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0047 |
7 | 92 | 0.0761 | 9 | c.-15 others(20): Show |
SETD9 | ENSG00000155542.12 | transcript | ENST00000285947.5 | protein_coding | 1526 | chr5 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150923910 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01069.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0094 others(28): Show |
31 | 41 | 0.7561 | 9 | c.-26 others(20): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 2452 | chr1 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150933368 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00735.hp2 others(80): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0004c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(71): Show |
83 | 267 | 0.3109 | 9 | c.412 others(26): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49470966 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp2 others(73): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0056 others(62): Show |
76 | 82 | 0.9268 | 9 | c.305 others(26): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49471935 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01358.hp1 HG02040.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0037a0003c0004t0018 | a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0096 others(9): Show |
12 | 231 | 0.0519 | 9 | c.305 others(26): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 5/13 | chr13 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132285878 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(43): Show |
a0002a0006a0017others(4): Show | a0002c0002a0006c0039a0017c0022others(4): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0014others(7): Show | a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0007 others(43): Show |
46 | 324 | 0.1420 | 9 | c.639 others(26): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 18/25 | chr9 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29874550 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01069.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0151 a0001c0001t0001g0160 others(10): Show |
13 | 61 | 0.2131 | 9 | c.210 others(26): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 12/17 | chr16 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26316889 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(131): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0014 a0001c0001t0001g0115 a0001c0001t0001g0128 others(130): Show |
134 | 238 | 0.5630 | 9 | c.201 others(28): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | chr22 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26347199 | A | AATGATGA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00733.hp1 others(41): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0226 a0001c0001t0002g0054 a0001c0001t0002g0057 others(41): Show |
44 | 199 | 0.2211 | 9 | c.221 others(26): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348707 | C | CAAGGGAG others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG03710.hp2 others(4): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0024others(3): Show | a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0003g0215 others(4): Show |
7 | 226 | 0.0310 | 9 | c.240 others(26): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26385234 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00738.hp1 others(48): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0035 others(48): Show |
51 | 52 | 0.9808 | 9 | c.*49 others(20): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1639 | chr22 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26387726 | G | GTGTGTGT others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(6): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0001t0002g0013 a0001c0001t0002g0076 a0001c0001t0002g0077 others(10): Show |
13 | 138 | 0.0942 | 9 | c.*74 others(20): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 4131 | chr22 | TogoVar | |||||||
SF3A1_chr22_30326988_30361894 | 30350304 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00733.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0021 a0001c0002t0004g0026 a0001c0002t0004g0047 others(6): Show |
16 | 371 | 0.0431 | 9 | c.185 others(26): Show |
SF3A1 | ENSG00000099995.19 | transcript | ENST00000215793.13 | protein_coding | 2/15 | chr22 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37961759 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02572.hp1 HG03704.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0004 | a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0196 others(12): Show |
15 | 31 | 0.4839 | 9 | c.137 others(28): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37983586 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0061 others(51): Show |
56 | 57 | 0.9825 | 9 | c.468 others(24): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 6/16 | chr1 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197418234 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01256.hp1 HG01261.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0180 a0001c0001t0001g0234 others(11): Show |
14 | 25 | 0.5600 | 9 | c.495 others(24): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31564814 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(57): Show |
a0001a0002a0004others(9): Show | a0001c0001a0002c0002a0002c0006others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(10): Show | a0001c0001t0001g0116 a0002c0002t0001g0033 a0002c0002t0001g0040 others(57): Show |
60 | 212 | 0.2830 | 9 | c.765 others(26): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31598716 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01168.hp2 others(27): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0020a0003c0003others(8): Show | a0001c0001t0001a0001c0020t0001a0003c0003t0001others(8): Show | a0001c0001t0001g0273 a0001c0020t0001g0250 a0003c0003t0001g0021 others(27): Show |
30 | 36 | 0.8333 | 9 | c.154 others(28): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31603398 | T | TCACTATA others(2): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18955.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0235 |
3 | 320 | 0.0094 | 9 | c.180 others(26): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 17/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52948825 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(53): Show |
56 | 164 | 0.3415 | 9 | c.124 others(26): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFR1_chr10_104117171_104131383 | 104129491 | A | AGATGGTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(126): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0003a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0013 others(13): Show |
129 | 424 | 0.3042 | 9 | c.*37 others(20): Show |
SFR1 | ENSG00000156384.15 | transcript | ENST00000369727.4 | protein_coding | 3109 | chr10 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131747103 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0047 others(58): Show |
61 | 282 | 0.2163 | 9 | c.108 others(28): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFT2D1_chr6_166314728_166347545 | 166314868 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00741.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0023 others(18): Show |
30 | 367 | 0.0817 | 9 | c.*53 others(20): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 4859 | chr6 | TogoVar | |||||||
SFT2D3_chr2_127696497_127710242 | 127700138 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(39): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0010others(4): Show | a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0010g0000 others(4): Show |
42 | 264 | 0.1591 | 9 | c.-13 others(20): Show |
SFT2D3 | ENSG00000173349.6 | transcript | ENST00000310981.6 | protein_coding | 1358 | chr2 | TogoVar | |||||||
SFT2D3_chr2_127696497_127710242 | 127700138 | A | ATATATTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02109.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(3): Show | a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 others(3): Show |
11 | 233 | 0.0472 | 9 | c.-13 others(20): Show |
SFT2D3 | ENSG00000173349.6 | transcript | ENST00000310981.6 | protein_coding | 1358 | chr2 | TogoVar | |||||||
SFTPC_chr8_22156798_22169479 | 22156845 | G | GGAGGCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01123.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(21): Show |
47 | 464 | 0.1013 | 9 | c.-49 others(20): Show |
SFTPC | ENSG00000168484.13 | transcript | ENST00000679463.1 | protein_coding | 4952 | chr8 | TogoVar | |||||||
SFTPD_chr10_79932740_79954105 | 79933422 | T | TTTATTAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00642.hp2 others(60): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0011a0002c0003others(4): Show | a0001c0001t0001a0001c0011t0001a0002c0003t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0042 others(18): Show |
63 | 180 | 0.3500 | 9 | c.*44 others(20): Show |
SFTPD | ENSG00000133661.17 | transcript | ENST00000372292.8 | protein_coding | 4317 | chr10 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175505537 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00741.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0001a0001c0001t0016a0001c0001t0025others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0104 a0001c0001t0001g0105 others(17): Show |
21 | 93 | 0.2258 | 9 | c.165 others(26): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175507973 | T | TAAAATAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02080.hp1 HG02572.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0027a0001c0002t0028others(3): Show | a0001c0002t0002g0057 a0001c0002t0002g0083 a0001c0002t0002g0150 others(13): Show |
16 | 248 | 0.0645 | 9 | c.165 others(26): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |