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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERPINA5_chr14_94576426_94598118 | 94585764 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01106.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0002a0002c0003t0006a0002c0004t0028others(1): Show | a0001c0001t0002g0029 a0001c0001t0002g0077 a0001c0001t0002g0087 others(9): Show |
14 | 464 | 0.0302 | -12 | c.-17 others(29): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERPINA9_chr14_94457721_94481197 | 94464270 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00673.hp2 others(52): Show |
a0002a0004 | a0002c0001a0002c0015a0004c0004 | a0002c0001t0001a0002c0015t0001a0004c0004t0001 | a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0029 others(31): Show |
55 | 466 | 0.1180 | -12 | c.105 others(29): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
SERPINA9_chr14_94457721_94481197 | 94477874 | CCACACAC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG03017.hp1 HG03688.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0005a0002c0001others(3): Show | a0001c0002t0003a0001c0005t0001a0002c0001t0001others(3): Show | a0001c0002t0003g0050 a0001c0005t0001g0008 a0002c0001t0001g0328 others(3): Show |
6 | 466 | 0.0129 | -12 | c.-17 others(23): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 1678 | chr14 | TogoVar | |||||||
SERPINB12_chr18_63537369_63574329 | 63574067 | AAAACAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(169): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(101): Show |
172 | 402 | 0.4279 | -12 | c.*70 others(23): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 4739 | chr18 | TogoVar | |||||||
SERPINB13_chr18_63582343_63604192 | 63595902 | TTAAATAA others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 440 | 0.0023 | -12 | c.771 others(27): Show |
SERPINB13 | ENSG00000197641.12 | transcript | ENST00000344731.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB1_chr6_2827332_2846863 | 2834295 | TCATCCAT others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0003t0004g0006 |
10 | 478 | 0.0209 | -12 | c.736 others(27): Show |
SERPINB1 | ENSG00000021355.13 | transcript | ENST00000380739.6 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
SERPINB5_chr18_63471958_63510085 | 63473286 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(101): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0015a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(83): Show |
104 | 410 | 0.2537 | -12 | c.-37 others(23): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 3671 | chr18 | TogoVar | |||||||
SERPINB5_chr18_63471958_63510085 | 63473975 | ATGTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0166 a0001c0001t0001g0201 |
3 | 410 | 0.0073 | -12 | c.-30 others(23): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 2982 | chr18 | TogoVar | |||||||
SERPINB6_chr6_2943159_2976567 | 2972106 | CAGTTGCT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0210 |
2 | 384 | 0.0052 | -12 | c.-59 others(21): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 540 | chr6 | TogoVar | |||||||
SERPINB6_chr6_2943159_2976567 | 2972206 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 384 | 0.0026 | -12 | c.-69 others(21): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 640 | chr6 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63777879 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01070.hp2 others(32): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0226 a0001c0001t0001g0396 a0001c0001t0002g0221 others(29): Show |
35 | 432 | 0.0810 | -12 | c.-19 others(29): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783186 | AAGAGAGA others(5): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01433.hp1 HG02027.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0168 a0001c0001t0002g0012 others(16): Show |
20 | 432 | 0.0463 | -12 | c.168 others(27): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783224 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 432 | 0.0023 | -12 | c.168 others(27): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783228 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 432 | 0.0023 | -12 | c.168 others(27): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783232 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01074.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0008a0003c0005t0001 | a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0355 others(3): Show |
7 | 432 | 0.0162 | -12 | c.168 others(27): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB9_chr6_2882270_2908309 | 2903228 | TCTCCGTG others(5): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01168.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0087a0001c0001t0088a0001c0001t0089others(2): Show | a0001c0001t0087g0091 a0001c0001t0088g0094 a0001c0001t0089g0090 others(2): Show |
5 | 462 | 0.0108 | -12 | c.-50 others(19): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 1/7 | 2618 | chr6 | TogoVar | ||||||
SERPINC1_chr1_173898800_173922327 | 173907984 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0008 | a0001c0001t0001a0001c0004t0001a0007c0008t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0019 others(22): Show |
66 | 396 | 0.1667 | -12 | c.115 others(29): Show |
SERPINC1 | ENSG00000117601.15 | transcript | ENST00000367698.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SERPIND1_chr22_20769113_20792720 | 20770579 | GACACACA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02083.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0065 a0001c0002t0001g0012 |
3 | 412 | 0.0073 | -12 | c.-35 others(23): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 3533 | chr22 | TogoVar | |||||||
SERPIND1_chr22_20769113_20792720 | 20771565 | CTTTATTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0003g0008 |
2 | 412 | 0.0049 | -12 | c.-25 others(23): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 2547 | chr22 | TogoVar | |||||||
SERPIND1_chr22_20769113_20792720 | 20790699 | AACACACA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0059 | 1 | 412 | 0.0024 | -12 | c.*36 others(23): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 2980 | chr22 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101132724 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(193): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(171): Show |
196 | 436 | 0.4495 | -12 | c.700 others(27): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101135257 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 others(61): Show |
74 | 436 | 0.1697 | -12 | c.900 others(27): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101135261 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG02683.hp2 HG02976.hp1 NA19054.hp1 |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0004a0002c0003t0004a0002c0006t0003 | a0001c0001t0004g0092 a0002c0003t0004g0342 a0002c0006t0003g0347 |
3 | 436 | 0.0069 | -12 | c.900 others(27): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101136404 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG01361.hp1 others(30): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(5): Show | a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 others(22): Show |
33 | 436 | 0.0757 | -12 | c.108 others(29): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101140227 | CGAAAGAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0033 | a0001c0001t0002g0041 a0001c0001t0004g0101 a0001c0001t0033g0093 |
3 | 436 | 0.0069 | -12 | c.*27 others(23): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 981 | chr7 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143316 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 436 | 0.0023 | -12 | c.*58 others(23): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4070 | chr7 | TogoVar | |||||||
SERPINE2_chr2_223970045_224044286 | 224044100 | CCTTCCTT others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 374 | 0.0027 | -12 | c.-50 others(23): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 4815 | chr2 | TogoVar | |||||||
SERPINE2_chr2_223970045_224044286 | 224044128 | TTTTCTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0002others(3): Show | a0001c0001t0002g0211 a0001c0001t0002g0218 a0001c0001t0002g0219 others(8): Show |
12 | 374 | 0.0321 | -12 | c.-50 others(23): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 4843 | chr2 | TogoVar | |||||||
SERPINF1_chr17_1757060_1782565 | 1770051 | GTGAGTGC others(5): Show |
G | splice_region_variant others(1): Show |
LOW | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 444 | 0.0023 | -12 | c.283 others(24): Show |
SERPINF1 | ENSG00000132386.11 | transcript | ENST00000254722.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERPING1_chr11_57592685_57619848 | 57593333 | GGTGTGTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(150): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(45): Show |
153 | 344 | 0.4448 | -12 | c.-44 others(23): Show |
SERPING1 | ENSG00000149131.17 | transcript | ENST00000278407.9 | protein_coding | 4351 | chr11 | TogoVar | |||||||
SERPINH1_chr11_75557253_75577783 | 75561566 | ACAGCACC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01978.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0002g0001 a0001c0003t0001g0015 a0001c0004t0001g0005 others(1): Show |
11 | 436 | 0.0252 | -12 | c.-78 others(21): Show |
SERPINH1 | ENSG00000149257.16 | transcript | ENST00000358171.8 | protein_coding | 686 | chr11 | TogoVar | |||||||
SERPINI1_chr3_167730721_167830569 | 167760561 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02109.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0155 others(11): Show |
14 | 232 | 0.0603 | -12 | c.-19 others(31): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167772823 | ACTCTCTC others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 232 | 0.0043 | -12 | c.-18 others(31): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167775225 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(3): Show |
6 | 232 | 0.0259 | -12 | c.-18 others(31): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI2_chr3_167436933_167479042 | 167456150 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA18522.hp2 NA20129.hp1 |
a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0020 a0002c0007t0005g0041 |
3 | 352 | 0.0085 | -12 | c.867 others(29): Show |
SERPINI2 | ENSG00000114204.16 | transcript | ENST00000264677.9 | protein_coding | 5/8 | chr3 | TogoVar | |||||||
SERTAD3_chr19_40435844_40449335 | 40436123 | ACTAACTA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01175.hp2 HG01346.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0002g0002 a0001c0001t0006g0024 a0001c0001t0010g0012 others(3): Show |
16 | 378 | 0.0423 | -12 | c.*53 others(23): Show |
SERTAD3 | ENSG00000167565.13 | transcript | ENST00000322354.4 | protein_coding | 4720 | chr19 | TogoVar | |||||||
SERTAD3_chr19_40435844_40449335 | 40436127 | ACTATCTA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | -12 | c.*53 others(23): Show |
SERTAD3 | ENSG00000167565.13 | transcript | ENST00000322354.4 | protein_coding | 4716 | chr19 | TogoVar | |||||||
SERTAD3_chr19_40435844_40449335 | 40448608 | AATATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01361.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0005g0008 others(3): Show |
33 | 378 | 0.0873 | -12 | c.-44 others(23): Show |
SERTAD3 | ENSG00000167565.13 | transcript | ENST00000322354.4 | protein_coding | 4274 | chr19 | TogoVar | |||||||
SERTM1_chr13_36669020_36702839 | 36689506 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0121 | 1 | 438 | 0.0023 | -12 | c.-17 others(31): Show |
SERTM1 | ENSG00000180440.4 | transcript | ENST00000315190.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SESN2_chr1_28254518_28287491 | 28264585 | ACTGGAAT others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 338 | 0.0030 | -12 | c.91- others(27): Show |
SESN2 | ENSG00000130766.5 | transcript | ENST00000253063.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SESN2_chr1_28254518_28287491 | 28284680 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0004g0044 others(4): Show |
8 | 338 | 0.0237 | -12 | c.*38 others(23): Show |
SESN2 | ENSG00000130766.5 | transcript | ENST00000253063.4 | protein_coding | 2190 | chr1 | TogoVar | |||||||
SESN3_chr11_95160513_95236202 | 95160838 | AACACACA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 NA18522.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0049others(1): Show | a0001c0001t0001g0198 a0001c0001t0006g0316 a0001c0003t0049g0069 others(1): Show |
4 | 392 | 0.0102 | -12 | c.*12 others(25): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 4674 | chr11 | TogoVar | |||||||
SESN3_chr11_95160513_95236202 | 95186194 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02135.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0262 a0001c0001t0016g0052 |
2 | 392 | 0.0051 | -12 | c.526 others(27): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 4/9 | chr11 | TogoVar | |||||||
SESN3_chr11_95160513_95236202 | 95222053 | ACCCTAGG others(5): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 | 1 | 392 | 0.0026 | -12 | c.78+ others(27): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179138870 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02922.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0013 a0001c0001t0013g0016 |
2 | 274 | 0.0073 | -12 | c.849 others(29): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 9/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179149059 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02257.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0010a0001c0002t0030others(1): Show | a0001c0002t0002g0101 a0001c0002t0010g0110 a0001c0002t0030g0057 others(1): Show |
4 | 274 | 0.0146 | -12 | c.581 others(27): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 7/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179201918 | TATAATAA others(5): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 a0001c0001t0001g0266 |
2 | 274 | 0.0073 | -12 | c.-25 others(31): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179230113 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01361.hp1 HG01891.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0006a0001c0001t0008a0001c0001t0013others(6): Show | a0001c0001t0006g0008 a0001c0001t0006g0010 a0001c0001t0006g0011 others(23): Show |
26 | 274 | 0.0949 | -12 | c.-26 others(31): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44679682 | AGCGGCGG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 140 | 0.0071 | -12 | c.-15 others(23): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1205 | chr18 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44703348 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA18964.hp1 NA19010.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0018 | a0001c0001t0002g0010 a0003c0003t0018g0011 |
2 | 140 | 0.0143 | -12 | c.486 others(29): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |