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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX8_chr17_9245471_9580820 | 9396094 | TAAGAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00741.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0102 others(29): Show |
32 | 186 | 0.1720 | -9 | c.542 others(28): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9430051 | TTCTATAT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02148.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0002g0085 a0001c0001t0002g0171 a0001c0002t0002g0038 others(3): Show |
6 | 186 | 0.0323 | -9 | c.542 others(28): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9494615 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0002t0001g0044 a0001c0002t0002g0025 a0001c0002t0002g0036 others(6): Show |
9 | 21 | 0.4286 | -9 | c.449 others(26): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9547246 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG00741.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0083 others(65): Show |
68 | 72 | 0.9444 | -9 | c.213 others(26): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9547793 | TTTTGTTT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0029 a0001c0002t0001g0051 a0001c0002t0001g0052 others(5): Show |
8 | 186 | 0.0430 | -9 | c.213 others(26): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127611230 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(73): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(70): Show |
76 | 109 | 0.6972 | -9 | c.-11 others(20): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1046 | chr9 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127693877 | CTTGTTGT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02155.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(5): Show |
8 | 150 | 0.0533 | -9 | c.*30 others(20): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1179 | chr9 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127695053 | TTGATGAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01255.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0013 | a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(2): Show |
5 | 120 | 0.0417 | -9 | c.*41 others(20): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 2355 | chr9 | TogoVar | |||||||
STXBP4_chr17_54963765_55178632 | 54990286 | TCAGGCGA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp2 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0006others(2): Show | a0001c0001t0009a0001c0001t0019a0001c0001t0029others(32): Show | a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019 others(61): Show |
66 | 376 | 0.1755 | -9 | c.48- others(22): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 54997582 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA18968.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0006a0002c0003t0016 | a0001c0001t0004g0241 a0001c0001t0004g0284 a0001c0001t0004g0285 others(3): Show |
6 | 372 | 0.0161 | -9 | c.181 others(26): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121173323 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(36): Show |
a0001a0004a0007 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0251 others(36): Show |
39 | 58 | 0.6724 | -9 | c.877 others(28): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147275549 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023a0001c0001t0024others(1): Show | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | 157 | 0.0637 | -9 | c.715 others(26): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STYXL1_chr7_75991342_76053000 | 76026192 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01358.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 others(21): Show |
24 | 31 | 0.7742 | -9 | c.165 others(26): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
STYXL2_chr1_167089075_167134165 | 167120900 | AGGTATGT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00733.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0014others(3): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0004others(4): Show | a0001c0001t0001g0230 a0002c0002t0003g0034 a0002c0002t0003g0228 others(23): Show |
30 | 360 | 0.0833 | -9 | c.655 others(26): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67534768 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02738.hp1 HG04199.hp2 NA18969.hp2 others(3): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0003a0001c0018t0002 | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0183 others(3): Show |
6 | 78 | 0.0769 | -9 | c.227 others(26): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67575449 | CCATTTAT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp2 HG02071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0075 a0001c0001t0001g0267 a0001c0001t0001g0269 others(4): Show |
7 | 278 | 0.0252 | -9 | c.226 others(28): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102535930 | AGATGATG others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01069.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(70): Show |
73 | 173 | 0.4220 | -9 | c.318 others(28): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102581180 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00597.hp2 others(144): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(11): Show | a0001c0001t0001g0071 a0001c0001t0001g0107 a0001c0001t0001g0108 others(144): Show |
147 | 157 | 0.9363 | -9 | c.455 others(28): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUGP2_chr19_18985893_19038517 | 19005880 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01884.hp1 HG01884.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0058 others(17): Show |
22 | 300 | 0.0733 | -9 | c.245 others(28): Show |
SUGP2 | ENSG00000064607.17 | transcript | ENST00000452918.7 | protein_coding | 6/10 | chr19 | TogoVar | |||||||
SUGT1_chr13_52647836_52705909 | 52659814 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00642.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0076 others(20): Show |
28 | 137 | 0.2044 | -9 | c.328 others(24): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SUGT1_chr13_52647836_52705909 | 52687068 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0045a0001c0001t0096others(3): Show | a0001c0001t0030g0138 a0001c0001t0030g0139 a0001c0001t0045g0140 others(4): Show |
7 | 11 | 0.6364 | -9 | c.901 others(24): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69493452 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0012 | a0001c0001t0012g0293 a0002c0002t0012g0294 a0002c0002t0012g0295 |
3 | 280 | 0.0107 | -9 | c.-39 others(26): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
SULF1_chr8_69487847_69665912 | 69649972 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01069.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0014 a0001c0001t0003g0226 a0001c0001t0003g0268 others(6): Show |
9 | 47 | 0.1915 | -9 | c.258 others(28): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULT1A1_chr16_28600258_28615044 | 28603092 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 others(16): Show |
69 | 171 | 0.4035 | -9 | c.*27 others(20): Show |
SULT1A1 | ENSG00000196502.15 | transcript | ENST00000314752.12 | protein_coding | 2165 | chr16 | TogoVar | |||||||
SULT2A1_chr19_47865467_47891315 | 47866079 | TGGGATTA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG02486.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0008 | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0045 others(11): Show |
16 | 430 | 0.0372 | -9 | c.*53 others(20): Show |
SULT2A1 | ENSG00000105398.4 | transcript | ENST00000222002.4 | protein_coding | 4387 | chr19 | TogoVar | |||||||
SULT2A1_chr19_47865467_47891315 | 47880562 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0281 others(51): Show |
84 | 90 | 0.9333 | -9 | c.473 others(26): Show |
SULT2A1 | ENSG00000105398.4 | transcript | ENST00000222002.4 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48581887 | ATTATATT others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG02735.hp2 others(2): Show |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0001a0001c0006t0001a0001c0007t0001 | a0001c0005t0001g0210 a0001c0005t0001g0214 a0001c0005t0001g0256 others(2): Show |
5 | 360 | 0.0139 | -9 | c.215 others(26): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48587890 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01099.hp1 others(13): Show |
a0001 | a0001c0005a0001c0006a0001c0007others(1): Show | a0001c0005t0001a0001c0006t0001a0001c0007t0001others(1): Show | a0001c0005t0001g0001 a0001c0005t0001g0072 a0001c0005t0001g0114 others(12): Show |
16 | 27 | 0.5926 | -9 | c.423 others(24): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48602705 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0101 others(12): Show |
15 | 271 | 0.0554 | -9 | c.*33 others(20): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3283 | chr19 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48602825 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0156 |
3 | 86 | 0.0349 | -9 | c.*34 others(20): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3403 | chr19 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37193570 | AAAAAAGA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01192.hp1 others(15): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0014 others(11): Show |
18 | 351 | 0.0513 | -9 | c.-49 others(20): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 4901 | chr2 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37193597 | AAAGAAGA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02055.hp1 others(13): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 others(12): Show |
16 | 57 | 0.2807 | -9 | c.-49 others(20): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 4928 | chr2 | TogoVar | |||||||
SUMO4_chr6_149395262_149406278 | 149403248 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01993.hp1 HG03041.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0000 a0004c0004t0001g0000 |
3 | 305 | 0.0098 | -9 | c.*25 others(20): Show |
SUMO4 | ENSG00000177688.7 | transcript | ENST00000326669.6 | protein_coding | 1971 | chr6 | TogoVar | |||||||
SUN2_chr22_38729734_38760998 | 38731011 | TGTGTGTG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG03139.hp1 others(1): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0005a0001c0002t0008a0004c0005t0002 | a0001c0002t0005g0021 a0001c0002t0008g0185 a0004c0005t0002g0005 |
4 | 306 | 0.0131 | -9 | c.*52 others(20): Show |
SUN2 | ENSG00000100242.16 | transcript | ENST00000689035.1 | protein_coding | 3722 | chr22 | TogoVar | |||||||
SUPT20HL1_chrX_24355639_24372839 | 24364256 | TTGCTGCT others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG02622.hp1 HG02922.hp2 HG02970.hp2 others(17): Show |
a0004 | a0004c0007a0004c0010a0004c0012 | a0004c0007t0002a0004c0007t0020a0004c0007t0021others(3): Show | a0004c0007t0002g0000 a0004c0007t0020g0000 a0004c0007t0021g0000 others(3): Show |
20 | 208 | 0.0962 | -9 | c.154 others(18): Show |
p.Ala others(13): Show |
SUPT20HL1 | ENSG00000223731.4 | transcript | ENST00000686983.1 | protein_coding | 1/1 | 3665/7201 | 1543/2664 | 515/887 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SUPT3H_chr6_44821726_45382934 | 44890984 | TGGGGGAC others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02809.hp1 HG02818.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 others(6): Show |
9 | 262 | 0.0344 | -9 | c.912 others(28): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 10/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44985208 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02683.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0160 a0001c0001t0011g0161 a0001c0001t0011g0162 |
3 | 261 | 0.0115 | -9 | c.504 others(28): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45083167 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(101): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0053 a0001c0001t0003g0166 a0001c0001t0004g0167 others(101): Show |
104 | 112 | 0.9286 | -9 | c.186 others(28): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
SUPT5H_chr19_39440582_39481670 | 39458231 | CCCACCAC others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 |
3 | 140 | 0.0214 | -9 | c.308 others(22): Show |
SUPT5H | ENSG00000196235.14 | transcript | ENST00000432763.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SUPT5H_chr19_39440582_39481670 | 39475225 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(42): Show |
a0001 | a0001c0003a0001c0004a0001c0018 | a0001c0003t0001a0001c0003t0005a0001c0004t0002others(1): Show | a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0019 others(28): Show |
45 | 155 | 0.2903 | -9 | c.302 others(26): Show |
SUPT5H | ENSG00000196235.14 | transcript | ENST00000432763.7 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SUSD1_chr9_112035783_112180297 | 112051425 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01099.hp1 others(45): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0201 a0001c0001t0002g0017 a0001c0001t0002g0046 others(45): Show |
48 | 336 | 0.1429 | -9 | c.214 others(26): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 15/16 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112142961 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG00738.hp2 others(31): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 others(31): Show |
34 | 96 | 0.3542 | -9 | c.527 others(24): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 4/16 | chr9 | TogoVar | |||||||
SUSD3_chr9_93053701_93090133 | 93082305 | CTTTCCTT others(2): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG01952.hp1 others(27): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0005 | a0002c0002t0001a0002c0003t0001a0003c0005t0001 | a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0032 others(24): Show |
30 | 337 | 0.0890 | -9 | c.558 others(26): Show |
SUSD3 | ENSG00000157303.11 | transcript | ENST00000375472.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SUSD4_chr1_223215831_223369176 | 223252219 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02135.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0003t0002a0002c0005t0002others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0128 a0001c0001t0001g0129 others(18): Show |
21 | 217 | 0.0968 | -9 | c.724 others(28): Show |
SUSD4 | ENSG00000143502.16 | transcript | ENST00000366878.9 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33210855 | ATATTTTC others(2): Show |
A | intron_variant | MODIFIER | NA18986.hp1 NA18989.hp1 NA19011.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0016 | a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0348 others(1): Show |
4 | 402 | 0.0100 | -9 | c.291 others(26): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
SUSD6_chr14_69606596_69720144 | 69643994 | GCTTATCT others(2): Show |
G | intron_variant | MODIFIER | NA18972.hp1 NA18992.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0004g0013 |
3 | 286 | 0.0105 | -9 | c.-80 others(28): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SUZ12_chr17_31932007_32006038 | 31989584 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0017a0001c0005t0010 | a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0254 others(2): Show |
5 | 278 | 0.0180 | -9 | c.120 others(28): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91147965 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0006a0001c0007a0001c0009others(1): Show | a0001c0006t0036a0001c0007t0002a0001c0009t0025others(1): Show | a0001c0006t0036g0211 a0001c0007t0002g0187 a0001c0009t0025g0014 others(2): Show |
5 | 22 | 0.2273 | -9 | c.-39 others(30): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91272828 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(15): Show |
a0001a0005 | a0001c0005a0001c0017a0001c0022others(2): Show | a0001c0005t0002a0001c0005t0007a0001c0005t0008others(7): Show | a0001c0005t0002g0104 a0001c0005t0007g0027 a0001c0005t0007g0082 others(15): Show |
18 | 103 | 0.1748 | -9 | c.137 others(28): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91276799 | GTTGTTGT others(2): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01256.hp2 HG01358.hp1 others(5): Show |
a0001a0003 | a0001c0004a0001c0019a0003c0013 | a0001c0004t0003a0001c0004t0009a0001c0004t0023others(3): Show | a0001c0004t0003g0136 a0001c0004t0009g0098 a0001c0004t0023g0094 others(5): Show |
8 | 203 | 0.0394 | -9 | c.137 others(28): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |