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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SFMBT2_chr10_7153624_7416034 | 7377168 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01070.hp1 others(57): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0044 a0001c0001t0001g0139 a0001c0001t0002g0007 others(57): Show |
60 | 144 | 0.4167 | -8 | c.100 others(25): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7381070 | CACATACA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01884.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0061 a0001c0001t0004g0028 a0001c0001t0004g0077 others(16): Show |
19 | 144 | 0.1319 | -8 | c.100 others(23): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7392983 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0083 a0001c0001t0002g0106 a0001c0001t0003g0086 others(5): Show |
8 | 144 | 0.0556 | -8 | c.-51 others(27): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
SFN_chr1_26858149_26869456 | 26868248 | TTCTCTCT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show |
10 | 332 | 0.0301 | -8 | c.*42 others(19): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3793 | chr1 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41288530 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01243.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0031 a0001c0001t0001g0184 a0001c0001t0004g0055 others(8): Show |
11 | 384 | 0.0287 | -8 | c.622 others(27): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41306480 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG01516.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(5): Show |
8 | 384 | 0.0208 | -8 | c.544 others(25): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
SFRP2_chr4_153775591_153794083 | 153789505 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(12): Show |
76 | 434 | 0.1751 | -8 | c.-67 others(17): Show |
SFRP2 | ENSG00000145423.5 | transcript | ENST00000274063.5 | protein_coding | 423 | chr4 | TogoVar | |||||||
SFRP4_chr7_37900932_37921817 | 37905434 | GTCTATCT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 others(39): Show |
180 | 472 | 0.3814 | -8 | c.*20 others(19): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 497 | chr7 | TogoVar | |||||||
SFRP4_chr7_37900932_37921817 | 37905501 | ATCTGTCT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02109.hp1 HG02630.hp2 others(9): Show |
a0002 | a0002c0006 | a0002c0006t0008a0002c0006t0015a0002c0006t0023 | a0002c0006t0008g0010 a0002c0006t0015g0026 a0002c0006t0023g0065 |
12 | 472 | 0.0254 | -8 | c.*19 others(19): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 430 | chr7 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131706880 | CAAATAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(85): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0047 others(85): Show |
88 | 318 | 0.2767 | -8 | c.-43 others(19): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 4209 | chr12 | TogoVar | |||||||
SFT2D1_chr6_166314728_166347545 | 166333898 | GCCACCAA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(131): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0012 others(54): Show |
134 | 388 | 0.3454 | -8 | c.64- others(23): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SFT2D1_chr6_166314728_166347545 | 166347231 | AGAGAGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 HG03516.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0043 |
3 | 388 | 0.0077 | -8 | c.-47 others(19): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 4687 | chr6 | TogoVar | |||||||
SFT2D2_chr1_168221004_168258021 | 168253300 | CACATACA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(160): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(92): Show |
163 | 352 | 0.4631 | -8 | c.*10 others(21): Show |
SFT2D2 | ENSG00000213064.10 | transcript | ENST00000271375.7 | protein_coding | 280 | chr1 | TogoVar | |||||||
SFTA2_chr6_30926353_30937170 | 30928031 | GTTTTTTT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02165.hp1 NA18943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 7 | 435 | 0.0161 | -8 | c.*34 others(19): Show |
SFTA2 | ENSG00000196260.5 | transcript | ENST00000359086.4 | protein_coding | 3321 | chr6 | TogoVar | |||||||
SFTA2_chr6_30926353_30937170 | 30933443 | CCCTCCCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01069.hp1 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0004 | a0002c0003t0003g0007 a0002c0003t0004g0006 |
16 | 435 | 0.0368 | -8 | c.-13 others(19): Show |
SFTA2 | ENSG00000196260.5 | transcript | ENST00000359086.4 | protein_coding | 1274 | chr6 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175500403 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02155.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0014others(3): Show | a0001c0001t0004g0039 a0001c0001t0005g0024 a0001c0001t0005g0351 others(9): Show |
12 | 372 | 0.0323 | -8 | c.164 others(25): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN3_chr10_101026234_101046241 | 101026663 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02559.hp1 HG02735.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0015 others(4): Show |
11 | 444 | 0.0248 | -8 | c.-50 others(19): Show |
SFXN3 | ENSG00000107819.15 | transcript | ENST00000393459.6 | protein_coding | 4570 | chr10 | TogoVar | |||||||
SFXN3_chr10_101026234_101046241 | 101044717 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02300.hp1 NA18939.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0001 others(1): Show |
4 | 444 | 0.0090 | -8 | c.*51 others(19): Show |
SFXN3 | ENSG00000107819.15 | transcript | ENST00000393459.6 | protein_coding | 3477 | chr10 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 72968122 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG02071.hp2 HG03669.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0117 a0001c0001t0005g0014 a0001c0002t0001g0072 others(4): Show |
7 | 250 | 0.0280 | -8 | c.827 others(23): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73012649 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02015.hp2 HG02055.hp2 others(19): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0048 a0001c0002t0001g0061 a0001c0002t0001g0062 others(19): Show |
22 | 250 | 0.0880 | -8 | c.357 others(25): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73052351 | TGTGTATG others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0011others(1): Show | a0001c0002t0001g0085 a0001c0002t0002g0086 a0001c0002t0011g0084 others(1): Show |
4 | 250 | 0.0160 | -8 | c.171 others(25): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SGCB_chr4_52015706_52043299 | 52031406 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0020 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 others(3): Show |
6 | 368 | 0.0163 | -8 | c.244 others(25): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156333783 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02055.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0001t0042a0001c0002t0008others(2): Show | a0001c0001t0022g0064 a0001c0001t0042g0065 a0001c0002t0008g0115 others(2): Show |
5 | 150 | 0.0333 | -8 | c.3+4 others(21): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156444064 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03225.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0016a0001c0001t0033 | a0001c0001t0007g0123 a0001c0001t0016g0144 a0001c0001t0033g0141 |
3 | 150 | 0.0200 | -8 | c.193 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156444138 | CCTTCCCT others(1): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG04115.hp2 NA18959.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0038a0001c0002t0008a0002c0003t0017 | a0001c0001t0038g0044 a0001c0002t0008g0101 a0002c0003t0017g0014 |
3 | 150 | 0.0200 | -8 | c.193 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156448731 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02056.hp2 HG02083.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0122 a0001c0001t0005g0129 a0001c0001t0005g0130 others(9): Show |
12 | 150 | 0.0800 | -8 | c.193 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156487788 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01109.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(17): Show | a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0005g0047 others(26): Show |
29 | 150 | 0.1933 | -8 | c.193 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156497170 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02922.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0021others(3): Show | a0001c0001t0003g0018 a0001c0001t0006g0066 a0001c0001t0021g0027 others(3): Show |
6 | 150 | 0.0400 | -8 | c.193 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156498935 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(9): Show | a0001c0001t0001g0133 a0001c0001t0003g0125 a0001c0001t0030g0135 others(10): Show |
13 | 150 | 0.0867 | -8 | c.193 others(25): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156504390 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(28): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0068 a0001c0001t0003g0119 a0001c0001t0005g0047 others(28): Show |
31 | 150 | 0.2067 | -8 | c.193 others(25): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156524094 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01071.hp2 HG01109.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(10): Show | a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0006g0040 others(15): Show |
18 | 150 | 0.1200 | -8 | c.294 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156537459 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0029a0001c0001t0040others(1): Show | a0001c0001t0003g0125 a0001c0001t0029g0024 a0001c0001t0040g0131 others(1): Show |
4 | 150 | 0.0267 | -8 | c.294 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156558088 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01256.hp2 HG01978.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0133 a0001c0001t0003g0018 others(6): Show |
9 | 150 | 0.0600 | -8 | c.295 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156567377 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01169.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0122 others(23): Show |
26 | 150 | 0.1733 | -8 | c.295 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156567424 | AGATAGAT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0014others(6): Show | a0001c0001t0003g0119 a0001c0001t0009g0036 a0001c0001t0014g0132 others(6): Show |
9 | 150 | 0.0600 | -8 | c.295 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156695511 | GGATAGAT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01256.hp2 HG02559.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0018a0001c0001t0034others(4): Show | a0001c0001t0001g0058 a0001c0001t0001g0117 a0001c0001t0001g0143 others(9): Show |
12 | 150 | 0.0800 | -8 | c.575 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156696915 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02723.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0050 a0001c0001t0007g0126 a0001c0001t0009g0036 others(2): Show |
5 | 150 | 0.0333 | -8 | c.575 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156697750 | CGGATGGA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01243.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0122 a0001c0001t0005g0129 a0001c0001t0005g0130 others(18): Show |
21 | 150 | 0.1400 | -8 | c.575 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156698840 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01891.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0001g0122 a0001c0001t0005g0129 a0001c0001t0005g0130 others(18): Show |
21 | 150 | 0.1400 | -8 | c.575 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156728508 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0050a0001c0002t0057 | a0001c0001t0009g0036 a0001c0001t0009g0049 a0001c0001t0009g0067 others(3): Show |
6 | 150 | 0.0400 | -8 | c.576 others(27): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCE_chr7_94579980_94661133 | 94601443 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0001t0001g0101 others(3): Show |
6 | 390 | 0.0154 | -8 | c.826 others(23): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
SGCE_chr7_94579980_94661133 | 94604806 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG01243.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0058 others(21): Show |
24 | 390 | 0.0615 | -8 | c.663 others(25): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SGCE_chr7_94579980_94661133 | 94615365 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp1 others(100): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(95): Show |
103 | 390 | 0.2641 | -8 | c.662 others(25): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SGCG_chr13_23175979_23330162 | 23188311 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0125 a0001c0001t0003g0127 a0001c0001t0017g0124 others(3): Show |
6 | 354 | 0.0170 | -8 | c.-1+ others(23): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23299407 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG01496.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0003a0001c0003t0003a0001c0004t0003others(4): Show | a0001c0001t0003g0306 a0001c0003t0003g0330 a0001c0004t0003g0313 others(6): Show |
9 | 354 | 0.0254 | -8 | c.578 others(25): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23314382 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0084 others(29): Show |
32 | 354 | 0.0904 | -8 | c.579 others(25): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14099868 | TTACAATA others(1): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0075 | a0001c0001t0029g0016 a0001c0001t0075g0044 |
2 | 102 | 0.0196 | -8 | c.744 others(25): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 7/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14177498 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(11): Show | a0001c0001t0001g0089 a0001c0001t0002g0079 a0001c0001t0002g0095 others(12): Show |
15 | 102 | 0.1471 | -8 | c.425 others(27): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14222792 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01346.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(15): Show | a0001c0001t0001g0076 a0001c0001t0005g0091 a0001c0001t0012g0004 others(15): Show |
18 | 102 | 0.1765 | -8 | c.424 others(27): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14239248 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01074.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(22): Show | a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0002g0079 others(25): Show |
28 | 102 | 0.2745 | -8 | c.337 others(25): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 3/7 | chr8 | TogoVar |