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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCUBE1_chr22_43192280_43348372 | 43280699 | CCACCTTC others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(94): Show |
a0001a0002a0003others(10): Show | a0001c0003a0001c0004a0001c0006others(28): Show | a0001c0003t0003a0001c0003t0006a0001c0004t0005others(57): Show | a0001c0003t0003g0089 a0001c0003t0003g0230 a0001c0003t0003g0265 others(94): Show |
97 | 255 | 0.3804 | -27 | c.484 others(46): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43280732 | TCCTCCTC others(20): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0009 | a0002c0009t0024 | a0002c0009t0024g0062 | 1 | 244 | 0.0041 | -27 | c.484 others(46): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43280739 | CGGCCACC others(20): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 HG03471.hp2 |
a0005 | a0005c0030a0005c0031 | a0005c0030t0014a0005c0031t0017 | a0005c0030t0014g0238 a0005c0030t0014g0239 a0005c0031t0017g0009 |
3 | 275 | 0.0109 | -27 | c.484 others(46): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281461 | AGCCACCC others(20): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 |
a0001a0002 | a0001c0010a0002c0005 | a0001c0010t0031a0002c0005t0074 | a0001c0010t0031g0006 a0002c0005t0074g0056 |
2 | 245 | 0.0082 | -27 | c.484 others(44): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281482 | CTCTTTGG others(20): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0183 | 1 | 270 | 0.0037 | -27 | c.484 others(44): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281518 | ACCCTCCT others(20): Show |
A | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0149 | 1 | 278 | 0.0036 | -27 | c.484 others(44): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227745953 | TGGTGGTG others(20): Show |
T | disruptive_inframe_deletion | MODERATE | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 456 | 0.0022 | -27 | c.84_ others(33): Show |
p.Gly others(11): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 1/1 | 84/327 | 84/327 | 28/108 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SDK1_chr7_3296252_4274000 | 4095253 | CTCTTCCT others(20): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00735.hp1 others(53): Show |
a0001a0002a0005others(18): Show | a0001c0002a0001c0007a0001c0008others(46): Show | a0001c0002t0040a0001c0007t0021a0001c0008t0007others(50): Show | a0001c0002t0040g0084 a0001c0007t0021g0110 a0001c0008t0007g0067 others(53): Show |
56 | 116 | 0.4828 | -27 | c.332 others(48): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4107111 | CAGGGTGG others(20): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02965.hp2 HG03710.hp2 |
a0001a0007 | a0001c0010a0001c0031a0007c0044 | a0001c0010t0002a0001c0031t0001a0007c0044t0001 | a0001c0010t0002g0085 a0001c0031t0001g0018 a0007c0044t0001g0020 |
3 | 102 | 0.0294 | -27 | c.332 others(46): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4254884 | ACTGTGGT others(20): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0071 | a0001c0071t0057 | a0001c0071t0057g0031 | 1 | 116 | 0.0086 | -27 | c.638 others(46): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDR16C5_chr8_56295005_56325175 | 56310175 | AGGAGGAG others(20): Show |
A | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 396 | 0.0025 | -27 | c.466 others(44): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56316042 | CTTTTGGC others(20): Show |
C | disruptive_inframe_deletion | MODERATE | NA19086.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0169 | 1 | 396 | 0.0025 | -27 | c.279 others(34): Show |
p.His others(18): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 2/7 | 436/2536 | 279/930 | 93/309 | chr8 | TogoVar | |||
SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 8 | 0.1250 | -27 | c.52- others(42): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39075778 | ATCAAGAA others(20): Show |
A | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0118 | 1 | 364 | 0.0027 | -27 | c.987 others(42): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 8/19 | chr14 | TogoVar | |||||||
SEC24B_chr4_109428815_109545896 | 109477171 | ACAGAGTT others(20): Show |
A | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 220 | 0.0045 | -27 | c.106 others(46): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC63_chr6_107862756_107963208 | 107960064 | CCTCACTT others(20): Show |
C | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0112 | 1 | 320 | 0.0031 | -27 | c.-20 others(38): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1857 | chr6 | TogoVar | |||||||
SECTM1_chr17_82316024_82338766 | 82316265 | GCAGGGAG others(20): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01256.hp2 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0003a0002c0003t0015 | a0001c0002t0002g0095 a0002c0003t0003g0020 a0002c0003t0003g0116 others(1): Show |
6 | 372 | 0.0161 | -27 | c.*58 others(38): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 4758 | chr17 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12943065 | TAAATATA others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02257.hp2 HG02451.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0303 a0001c0001t0001g0342 a0001c0001t0001g0343 others(14): Show |
17 | 386 | 0.0440 | -27 | c.-50 others(38): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 4945 | chr18 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9207888 | GATAGATA others(20): Show |
G | intron_variant | MODIFIER | HG01981.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0019a0001c0001t0023a0001c0001t0067others(1): Show | a0001c0001t0019g0118 a0001c0001t0023g0017 a0001c0001t0067g0128 others(1): Show |
4 | 108 | 0.0370 | -27 | c.647 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 8/22 | chr5 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056758 | AATATATT others(20): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(102): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0043 others(100): Show |
105 | 392 | 0.2679 | -27 | c.140 others(46): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP3_chr17_7556919_7576969 | 7571882 | TATATATA others(20): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 427 | 0.0023 | -27 | c.*40 others(36): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 401 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP3_chr17_7556919_7576969 | 7571887 | ATATATAT others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 443 | 0.0023 | -27 | c.*40 others(36): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 405 | chr17 | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119640476 | TTCCCATT others(20): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00741.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0024 others(68): Show |
71 | 250 | 0.2840 | -27 | c.787 others(42): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 6/10 | chrX | TogoVar | |||||||
SERPINB1_chr6_2827332_2846863 | 2838394 | GTGTTTGC others(20): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02809.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0046 others(1): Show |
8 | 476 | 0.0168 | -27 | c.306 others(42): Show |
SERPINB1 | ENSG00000021355.13 | transcript | ENST00000380739.6 | protein_coding | 3/6 | chr6 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63785887 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG00738.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0017a0001c0003t0005a0001c0003t0010others(1): Show | a0001c0001t0017g0106 a0001c0003t0005g0024 a0001c0003t0005g0055 others(23): Show |
33 | 430 | 0.0767 | -27 | c.168 others(44): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINC1_chr1_173898800_173922327 | 173907984 | AAATAATA others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00673.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 others(17): Show |
38 | 84 | 0.4524 | -27 | c.115 others(44): Show |
SERPINC1 | ENSG00000117601.15 | transcript | ENST00000367698.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143515 | GAGAAAGA others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0154 a0001c0001t0001g0155 others(5): Show |
8 | 227 | 0.0352 | -27 | c.*60 others(38): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4269 | chr7 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143527 | GAGAAAGA others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01192.hp2 HG01978.hp1 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0013 a0003c0002t0002g0019 a0003c0002t0002g0047 others(3): Show |
6 | 283 | 0.0212 | -27 | c.*60 others(38): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4281 | chr7 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179230113 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0160 | 1 | 22 | 0.0455 | -27 | c.-26 others(46): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47044344 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG04199.hp2 NA18943.hp2 |
a0001a0016 | a0001c0002a0016c0026 | a0001c0002t0002a0016c0026t0002 | a0001c0002t0002g0032 a0016c0026t0002g0063 |
2 | 22 | 0.0909 | -27 | c.709 others(46): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 16/20 | chr3 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26318132 | GGTGCCAT others(20): Show |
G | intron_variant | MODIFIER | NA18962.hp1 NA19056.hp1 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0002a0001c0027t0005 | a0001c0001t0002g0223 a0001c0027t0005g0222 |
2 | 238 | 0.0084 | -27 | c.201 others(46): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26387724 | GTGGTGTG others(20): Show |
G | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0091 | 1 | 233 | 0.0043 | -27 | c.*74 others(38): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 4129 | chr22 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41290886 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0041 | a0002c0002t0041g0264 | 1 | 124 | 0.0081 | -27 | c.622 others(46): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP4_chr7_37900932_37921817 | 37905482 | ATCTATCA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02895.hp1 others(2): Show |
a0002 | a0002c0006a0002c0007 | a0002c0006t0015a0002c0007t0013 | a0002c0006t0015g0026 a0002c0007t0013g0020 |
5 | 470 | 0.0106 | -27 | c.*19 others(38): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 449 | chr7 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175524120 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02922.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020a0001c0001t0063 | a0001c0001t0005g0147 a0001c0001t0020g0195 a0001c0001t0020g0196 others(1): Show |
4 | 351 | 0.0114 | -27 | c.872 others(44): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524122 | AAAAATAT others(20): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01168.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0005 a0001c0001t0005g0032 a0001c0001t0005g0033 others(6): Show |
9 | 340 | 0.0265 | -27 | c.872 others(44): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524124 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0005 a0001c0001t0018g0313 |
2 | 306 | 0.0065 | -27 | c.872 others(44): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCB_chr4_52015706_52043299 | 52034331 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG01069.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0108 a0001c0001t0009g0177 |
2 | 5 | 0.4000 | -27 | c.34- others(40): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156444086 | CTCTCTCT others(20): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 148 | 0.0068 | -27 | c.193 others(46): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14572750 | GAACAAGC others(20): Show |
G | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0062 | 1 | 102 | 0.0098 | -27 | c.40- others(44): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14847126 | AAAGAAGA others(20): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0045 | 1 | 11 | 0.0909 | -27 | c.40- others(46): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66660119 | GGAAAGAA others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0045 | a0001c0001t0001g0108 a0001c0001t0001g0140 a0001c0001t0001g0283 others(2): Show |
5 | 288 | 0.0174 | -27 | c.460 others(42): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66736175 | ATAAATAT others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(168): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0004 a0001c0001t0001g0071 a0001c0001t0001g0077 others(168): Show |
171 | 300 | 0.5700 | -27 | c.203 others(46): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66736400 | ATATTATA others(20): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0151 | 1 | 294 | 0.0034 | -27 | c.203 others(46): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66736627 | GAATATAA others(20): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0249 | 1 | 300 | 0.0033 | -27 | c.203 others(46): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63718988 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 286 | 0.0035 | -27 | c.684 others(44): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGSM2_chr17_2332501_2386054 | 2372274 | GGCTGTGG others(20): Show |
G | intron_variant | MODIFIER | NA18955.hp2 | a0023 | a0023c0033 | a0023c0033t0001 | a0023c0033t0001g0198 | 1 | 420 | 0.0024 | -27 | c.164 others(42): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 14/23 | chr17 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80572959 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0005 | a0005c0005t0006 | a0005c0005t0006g0204 | 1 | 320 | 0.0031 | -27 | c.495 others(44): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80572960 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0025 | 1 | 319 | 0.0031 | -27 | c.495 others(44): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572962 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG02145.hp1 others(8): Show |
a0002a0007a0009 | a0002c0007a0007c0020a0009c0009 | a0002c0007t0001a0002c0007t0002a0002c0007t0010others(4): Show | a0002c0007t0001g0001 a0002c0007t0001g0020 a0002c0007t0002g0012 others(7): Show |
11 | 313 | 0.0351 | -27 | c.495 others(44): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |