regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDK1_chr7_3296252_4274000 | 4201712 | AGCATGGC others(31): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp1 |
a0004a0023 | a0004c0055a0023c0035 | a0004c0055t0055a0023c0035t0005 | a0004c0055t0055g0021a0023c0035t0005g0058 | 2 | 116 | 0.0172 | -38 | c.509 others(57): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDR16C5_chr8_56295005_56325175 | 56304453 | GTGGGTCA others(31): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 398 | 0.0025 | -38 | c.836 others(55): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
SEC16A_chr9_136435105_136488040 | 136462439 | GCTGCTCT others(31): Show |
G | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0244 | 1 | 306 | 0.0033 | -38 | c.489 others(55): Show |
SEC16A | ENSG00000148396.19 | transcript | ENST00000684901.1 | protein_coding | 12/31 | chr9 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13900272 | AAAGTTGA others(31): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 324 | 0.0031 | -38 | c.550 others(57): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | ||||||
SEL1L3_chr4_25742433_25867988 | 25746510 | ATATATAT others(31): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0300 | 1 | 312 | 0.0032 | -38 | c.*18 others(49): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 922 | chr4 | TogoVar | ||||||
SELENOW_chr19_47773703_47789682 | 47781805 | TGGCTGAG others(31): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 406 | 0.0025 | -38 | c.*18 others(53): Show |
SELENOW | ENSG00000178980.16 | transcript | ENST00000601048.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SEMA3A_chr7_83950777_84199789 | 84091180 | GAAAGAAA others(31): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01106.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0001g0205a0001c0001t0003g0050a0001c0001t0009g0165others(23): Show | 26 | 276 | 0.0942 | -38 | c.453 others(57): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | ||||||
SEMA3C_chr7_80737538_80924051 | 80750447 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0005a0001c0009t0007g0006 | 2 | 244 | 0.0082 | -38 | c.171 others(55): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 16/17 | chr7 | TogoVar | ||||||
SEMG1_chr20_45202033_45214768 | 45212039 | AAGAAAGA others(31): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp1 others(24): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0005g0003 | 27 | 408 | 0.0662 | -38 | c.*24 others(49): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2272 | chr20 | TogoVar | ||||||
SENP3_chr17_7556919_7576969 | 7571837 | TTATATAT others(31): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0176 | a0001c0001t0037g0018a0001c0001t0176g0007 | 4 | 446 | 0.0090 | -38 | c.*38 others(47): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 389 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
SENP3_chr17_7556919_7576969 | 7571872 | TATATATA others(31): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02886.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0117a0001c0001t0177 | a0001c0001t0117g0003a0001c0001t0177g0007 | 2 | 446 | 0.0045 | -38 | c.*39 others(47): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 391 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
SENP3_chr17_7556919_7576969 | 7571874 | TATATATA others(31): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0162a0001c0001t0163 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0014others(9): Show | 28 | 446 | 0.0628 | -38 | c.*39 others(47): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 399 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
SEPTIN1_chr16_30373135_30387561 | 30376163 | CAGAACCG others(31): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0053 | 1 | 310 | 0.0032 | -38 | c.*22 others(49): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 1971 | chr16 | TogoVar | ||||||
SEPTIN5_chr22_19709503_19728319 | 19726135 | GCGGTGAG others(31): Show |
G | downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | -38 | c.*36 others(49): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2817 | chr22 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77450004 | TCAGATGG others(31): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 158 | 0.0063 | -38 | c.668 others(57): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC5_chr5_80133727_80261048 | 80197308 | TGAGAGAG others(31): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(177): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0015others(177): Show | 180 | 286 | 0.6294 | -38 | c.195 others(55): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
SERPINA11_chr14_94437464_94457800 | 94444459 | GTGGGAAG others(31): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 452 | 0.0022 | -38 | c.918 others(55): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 3/4 | chr14 | TogoVar | ||||||
SERPINA11_chr14_94437464_94457800 | 94449395 | TCTTTCTT others(31): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02074.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0208 | 3 | 452 | 0.0066 | -38 | c.-3- others(51): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
SERPINA11_chr14_94437464_94457800 | 94449473 | CTTTCTTT others(31): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 | 1 | 452 | 0.0022 | -38 | c.-3- others(51): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
SERPINB12_chr18_63537369_63574329 | 63549705 | GGGAGTTC others(31): Show |
G | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 402 | 0.0025 | -38 | c.-18 others(55): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SERPINE1_chr7_101122104_101144247 | 101140189 | AGAGAAAG others(31): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0025 | a0001c0001t0001g0026a0001c0001t0001g0125a0001c0001t0001g0126others(19): Show | 23 | 436 | 0.0528 | -38 | c.*27 others(49): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 943 | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101140244 | GAAAGAAA others(31): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(96): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0015others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0015others(83): Show | 99 | 436 | 0.2271 | -38 | c.*28 others(49): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 998 | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101140258 | AAGAAAGA others(31): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp1 NA18989.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0004a0003c0002t0002 | a0001c0001t0004g0309a0003c0002t0002g0322 | 2 | 436 | 0.0046 | -38 | c.*28 others(49): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 1012 | chr7 | TogoVar | ||||||
SESN1_chr6_108979309_109099846 | 108989454 | TATCTAGA others(31): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG02486.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0123 | 3 | 184 | 0.0163 | -38 | c.142 others(55): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
SESN1_chr6_108979309_109099846 | 108989529 | ATAGAGAT others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0053a0001c0001t0001g0054others(52): Show | 55 | 184 | 0.2989 | -38 | c.142 others(55): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44868698 | GGACGGAA others(31): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 140 | 0.0071 | -38 | c.487 others(53): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
SETD4_chr21_36029541_36065526 | 36063927 | GGCCCCAA others(31): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02074.hp2 NA18747.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0022others(5): Show | 12 | 398 | 0.0302 | -38 | c.-36 others(49): Show |
SETD4 | ENSG00000185917.14 | transcript | ENST00000332131.9 | protein_coding | 3402 | chr21 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156444108 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0015 | a0001c0001t0003g0136a0001c0002t0015g0086 | 2 | 150 | 0.0133 | -38 | c.193 others(57): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23303778 | AAAAAGAT others(31): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 | 1 | 354 | 0.0028 | -38 | c.578 others(55): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCZ_chr8_14079845_15243431 | 14551533 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0060a0002c0002t0007 | a0001c0001t0060g0071a0002c0002t0007g0070 | 2 | 102 | 0.0196 | -38 | c.234 others(55): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66589163 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0051 | a0002c0003t0051g0112 | 1 | 302 | 0.0033 | -38 | c.11- others(55): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGK3_chr8_66707781_66867022 | 66839521 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 142 | 0.0070 | -38 | c.742 others(53): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00642.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0096a0001c0001t0001g0115others(44): Show | 47 | 312 | 0.1506 | -38 | c.-23 others(59): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50400416 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 312 | 0.0032 | -38 | c.-23 others(59): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350728 | ATATAATA others(31): Show |
A | intron_variant | MODIFIER | HG02896.hp1 NA18975.hp2 NA18987.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0117a0001c0001t0002g0118a0001c0001t0005g0015 | 4 | 318 | 0.0126 | -38 | c.137 others(55): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SH3GLB2_chr9_129002036_129033331 | 129024795 | CCCATCTC others(31): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0255 | 1 | 436 | 0.0023 | -38 | c.64- others(53): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103810914 | ACACACGG others(31): Show |
A | intron_variant | MODIFIER | HG02155.hp1 HG02965.hp1 HG03516.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0093a0001c0002t0002others(3): Show | a0001c0001t0004g0057a0001c0001t0093g0106a0001c0002t0002g0018others(3): Show | 6 | 250 | 0.0240 | -38 | c.73- others(53): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
SH3PXD2B_chr5_172328499_172459525 | 172439255 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG04115.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0263a0001c0001t0004g0255a0001c0001t0004g0273 | 3 | 280 | 0.0107 | -38 | c.75+ others(55): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 145948882 | CCATGGGT others(31): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 272 | 0.0037 | -38 | c.378 others(57): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SH3RF2_chr5_145931578_146068292 | 146064654 | GAGAGAGA others(31): Show |
G | downstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 272 | 0.0037 | -38 | c.*19 others(49): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1363 | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064658 | GAGAAAGA others(31): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01175.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0069others(2): Show | 5 | 272 | 0.0184 | -38 | c.*19 others(49): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1367 | chr5 | TogoVar | ||||||
SH3YL1_chr2_213144_269032 | 235764 | AGCAGCAT others(31): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(106): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(73): Show | 109 | 360 | 0.3028 | -38 | c.292 others(55): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SH3YL1_chr2_213144_269032 | 235972 | AGCAGCAT others(31): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 360 | 0.0028 | -38 | c.292 others(55): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50707886 | CTTTTCTT others(31): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 316 | 0.0032 | -38 | c.107 others(57): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 450817 | ATATTTCA others(31): Show |
A | intron_variant | MODIFIER | HG03831.hp2 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094a0001c0002t0001g0095 | 2 | 212 | 0.0094 | -38 | c.468 others(55): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 451206 | CGTGTGGA others(31): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00639.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0099a0001c0001t0003g0171a0001c0001t0004g0161others(15): Show | 18 | 212 | 0.0849 | -38 | c.468 others(55): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182927050 | CTATATAT others(31): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp2 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0287a0001c0003t0001g0288a0001c0003t0001g0289others(1): Show | 4 | 302 | 0.0133 | -38 | c.118 others(57): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182952169 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 302 | 0.0033 | -38 | c.405 others(53): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182952173 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0280a0001c0003t0001g0281a0001c0003t0001g0282others(2): Show | 5 | 302 | 0.0166 | -38 | c.405 others(53): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182952175 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0286 | 1 | 302 | 0.0033 | -38 | c.405 others(53): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar |