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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC14L1_chr17_77135969_77222101 | 77215762 | AGTAGGTA others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18959.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0255 a0001c0001t0033g0280 |
2 | 430 | 0.0047 | -26 | c.*17 others(37): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 1750 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L1_chr17_77135969_77222101 | 77216084 | AGTAGGTA others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02109.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0001c0001t0019a0001c0001t0041others(1): Show | a0001c0001t0009g0003 a0001c0001t0009g0051 a0001c0001t0009g0052 others(8): Show |
12 | 430 | 0.0279 | -26 | c.*20 others(37): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2072 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L1_chr17_77135969_77222101 | 77216147 | TTCGTAGG others(19): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp2 others(60): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0033a0001c0001t0035others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0211 others(58): Show |
63 | 430 | 0.1465 | -26 | c.*21 others(37): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2126 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L1_chr17_77135969_77222101 | 77216149 | CGTAGGTA others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19068.hp1 | a0013 | a0013c0010 | a0013c0010t0039 | a0013c0010t0039g0412 | 1 | 430 | 0.0023 | -26 | c.*21 others(37): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2139 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L1_chr17_77135969_77222101 | 77216383 | AGTAGGTA others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0019others(15): Show | a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0211 others(79): Show |
85 | 430 | 0.1977 | -26 | c.*23 others(37): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2371 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L1_chr17_77135969_77222101 | 77216396 | AGTAGGTA others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0199 a0001c0001t0025g0392 |
2 | 430 | 0.0047 | -26 | c.*23 others(37): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2399 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L3_chr22_30454229_30477017 | 30454918 | ATATTATA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02080.hp2 HG02132.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(2): Show |
5 | 454 | 0.0110 | -26 | c.*50 others(37): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4310 | chr22 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094389 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 366 | 0.0027 | -26 | c.222 others(43): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094391 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 NA20805.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0173 |
3 | 366 | 0.0082 | -26 | c.222 others(43): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094424 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0345 a0001c0001t0003g0361 a0001c0001t0003g0362 others(1): Show |
4 | 366 | 0.0109 | -26 | c.222 others(43): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82865536 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp2 others(46): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0004others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0031 others(45): Show |
49 | 328 | 0.1494 | -26 | c.119 others(43): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 10/26 | chr4 | TogoVar | |||||||
SELENOT_chr3_150598321_150635436 | 150634891 | AGCCTGGG others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0050 | 1 | 380 | 0.0026 | -26 | c.*72 others(37): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 4456 | chr3 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84091192 | GAAAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG02155.hp2 HG02258.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0038others(2): Show | a0001c0001t0001g0112 a0001c0002t0002g0042 a0001c0002t0038g0020 others(2): Show |
5 | 276 | 0.0181 | -26 | c.453 others(45): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80750435 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02630.hp1 NA19240.hp2 NA20905.hp1 |
a0001a0002 | a0001c0007a0001c0008a0002c0018 | a0001c0007t0005a0001c0008t0005a0002c0018t0008 | a0001c0007t0005g0064 a0001c0008t0005g0171 a0002c0018t0008g0115 |
3 | 244 | 0.0123 | -26 | c.171 others(43): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 16/17 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85168851 | AAGAAAGA others(19): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0094 | 1 | 266 | 0.0038 | -26 | c.-17 others(47): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83593284 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0046a0001c0008t0065 | a0001c0001t0046g0034 a0001c0008t0065g0071 |
2 | 226 | 0.0089 | -26 | c.115 others(45): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83604518 | ATACATAT others(19): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0073 | 1 | 226 | 0.0044 | -26 | c.115 others(45): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89457171 | TGAGCAAC others(19): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0067 | 1 | 370 | 0.0027 | -26 | c.-30 others(45): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA4G_chr10_100964504_100990616 | 100990059 | TTTGGGAG others(19): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0012 | a0012c0024 | a0012c0024t0001 | a0012c0024t0001g0058 | 1 | 372 | 0.0027 | -26 | c.*59 others(37): Show |
SEMA4G | ENSG00000095539.16 | transcript | ENST00000210633.4 | protein_coding | 4444 | chr10 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9088900 | TGTATACT others(19): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0050 | 1 | 134 | 0.0075 | -26 | c.207 others(47): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9131633 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0122 | 1 | 134 | 0.0075 | -26 | c.159 others(45): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122993742 | TTGCCACC others(19): Show |
T | intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0109 | 1 | 290 | 0.0035 | -26 | c.-38 others(45): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116467283 | GAAGAGTG others(19): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(14): Show |
a0001a0009 | a0001c0001a0001c0004a0001c0014others(1): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0021others(6): Show | a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0038 others(13): Show |
17 | 304 | 0.0559 | -26 | c.189 others(43): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 18/18 | chr5 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185584449 | CTACATAT others(19): Show |
C | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0121 | a0002c0002t0121g0273 | 1 | 360 | 0.0028 | -26 | c.-19 others(37): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1845 | chr3 | TogoVar | |||||||
SENP3_chr17_7556919_7576969 | 7571837 | TTATATAT others(19): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02056.hp1 HG02074.hp2 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0002 a0001c0001t0028g0003 |
4 | 446 | 0.0090 | -26 | c.*40 others(35): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 401 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP3_chr17_7556919_7576969 | 7571884 | TATATATA others(19): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0003 | 2 | 446 | 0.0045 | -26 | c.*40 others(35): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 403 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP3_chr17_7556919_7576969 | 7571886 | TATATATA others(19): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01433.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0080a0001c0001t0106others(1): Show | a0001c0001t0049g0001 a0001c0001t0049g0015 a0001c0001t0080g0001 others(2): Show |
5 | 446 | 0.0112 | -26 | c.*41 others(35): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 411 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP6_chr6_75596880_75723281 | 75638576 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 362 | 0.0028 | -26 | c.459 others(43): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101463364 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02486.hp1 HG02970.hp1 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0097 a0003c0004t0002g0111 a0003c0004t0002g0118 |
3 | 370 | 0.0081 | -26 | c.187 others(43): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132769998 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0093 |
3 | 326 | 0.0092 | -26 | c.31- others(41): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77486511 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0036 | 1 | 150 | 0.0067 | -26 | c.914 others(41): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77486511 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0139 | 1 | 158 | 0.0063 | -26 | c.860 others(41): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158143329 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02451.hp1 others(11): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0003a0002c0006t0003 | a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 others(11): Show |
14 | 366 | 0.0383 | -26 | c.610 others(41): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143331 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG00642.hp1 NA18522.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0002a0001c0002t0003a0001c0002t0014others(1): Show | a0001c0001t0002g0060 a0001c0002t0003g0322 a0001c0002t0014g0337 others(1): Show |
4 | 366 | 0.0109 | -26 | c.610 others(41): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143333 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | NA18747.hp2 NA18992.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0200 a0001c0001t0002g0226 a0001c0001t0002g0242 others(1): Show |
4 | 366 | 0.0109 | -26 | c.610 others(41): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169686 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02717.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0008 a0001c0001t0002g0198 a0001c0001t0002g0203 others(8): Show |
11 | 366 | 0.0301 | -26 | c.-15 others(37): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1425 | chr6 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67409395 | ACACACAC others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0060 | 1 | 368 | 0.0027 | -26 | c.*37 others(37): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 8/8 | 3786 | chr1 | TogoVar | ||||||
SERGEF_chr11_17783048_18018047 | 18015270 | TGTGTGAG others(19): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0004 | 1 | 226 | 0.0044 | -26 | c.-22 others(37): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 2224 | chr11 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80175166 | CCATATAA others(19): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 286 | 0.0035 | -26 | c.458 others(41): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
SERPINA10_chr14_94275460_94298268 | 94285460 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG04115.hp2 NA18968.hp1 NA18970.hp1 others(5): Show |
a0007a0018 | a0007c0006a0018c0015 | a0007c0006t0006a0018c0015t0006 | a0007c0006t0006g0015 a0007c0006t0006g0034 a0007c0006t0006g0083 others(1): Show |
8 | 421 | 0.0190 | -26 | c.114 others(43): Show |
SERPINA10 | ENSG00000140093.10 | transcript | ENST00000261994.9 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94449395 | TCTTTCTT others(19): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG02280.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0225 a0001c0001t0001g0273 others(1): Show |
4 | 452 | 0.0089 | -26 | c.-3- others(39): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63783210 | GAGAGAGA others(19): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01257.hp1 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0175 others(8): Show |
13 | 432 | 0.0301 | -26 | c.168 others(41): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783214 | GAGAGAGA others(19): Show |
G | intron_variant | MODIFIER | HG03471.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0190 a0001c0001t0003g0238 |
2 | 432 | 0.0046 | -26 | c.168 others(41): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783218 | GAGAGAGA others(19): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0061 | 1 | 432 | 0.0023 | -26 | c.168 others(41): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101140270 | AAGAAAGA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG02486.hp2 NA18960.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0003c0002t0002 | a0001c0001t0002g0081 a0003c0002t0002g0045 a0003c0002t0002g0268 others(3): Show |
7 | 436 | 0.0161 | -26 | c.*28 others(37): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 1024 | chr7 | TogoVar | |||||||
SERPINI1_chr3_167730721_167830569 | 167772883 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 232 | 0.0043 | -26 | c.-18 others(45): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SESN3_chr11_95160513_95236202 | 95186194 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0257 | 1 | 392 | 0.0026 | -26 | c.526 others(41): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 4/9 | chr11 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44703348 | GTTTTTTT others(19): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0032 |
2 | 140 | 0.0143 | -26 | c.486 others(43): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44868694 | GAGAGGAC others(19): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 140 | 0.0071 | -26 | c.487 others(41): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44868698 | GGACGGAA others(19): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 140 | 0.0071 | -26 | c.487 others(41): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | TogoVar |