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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEZ6L_chr22_26164462_26388596 | 26278851 | G | GAAGAA | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01169.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0019others(13): Show | a0001c0001t0006g0229 a0001c0001t0008g0175 a0001c0001t0019g0176 others(16): Show |
19 | 240 | 0.0792 | 5 | c.95- others(22): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26290539 | T | TAAATA | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01109.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0006a0001c0003t0001a0001c0007t0003others(2): Show | a0001c0001t0006g0039 a0001c0003t0001g0230 a0001c0007t0003g0232 others(5): Show |
8 | 240 | 0.0333 | 5 | c.95- others(20): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26316892 | G | GAAGAA | intron_variant | MODIFIER | HG01433.hp1 HG02300.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0022 | a0001c0001t0005a0002c0005t0004a0002c0022t0001 | a0001c0001t0005g0053 a0001c0001t0005g0201 a0002c0005t0004g0184 others(1): Show |
4 | 240 | 0.0167 | 5 | c.201 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26318056 | C | CATTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0001g0155 others(80): Show |
83 | 240 | 0.3458 | 5 | c.201 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26338861 | T | TTTTTC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(74): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0076 others(74): Show |
77 | 240 | 0.3208 | 5 | c.201 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26352160 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp1 HG02630.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0006t0004others(3): Show | a0001c0001t0002g0019 a0001c0001t0002g0131 a0001c0001t0006g0229 others(4): Show |
7 | 240 | 0.0292 | 5 | c.259 others(22): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26355743 | C | CAGAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0006a0002c0002others(4): Show | a0001c0003t0001a0001c0003t0004a0001c0006t0001others(15): Show | a0001c0003t0001g0152 a0001c0003t0004g0210 a0001c0006t0001g0211 others(17): Show |
20 | 240 | 0.0833 | 5 | c.259 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26361343 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(119): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0006others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0129 a0001c0001t0001g0212 a0001c0001t0002g0012 others(119): Show |
122 | 240 | 0.5083 | 5 | c.260 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26387726 | G | GTGTGT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01981.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0003t0004others(4): Show | a0001c0001t0004g0173 a0001c0001t0005g0067 a0001c0003t0004g0182 others(5): Show |
8 | 240 | 0.0333 | 5 | c.*74 others(16): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 4131 | chr22 | TogoVar | |||||||
SEZ6_chr17_28949905_29011033 | 28966160 | T | TAAATA | intron_variant | MODIFIER | HG02698.hp1 NA18953.hp2 NA18990.hp1 others(10): Show |
a0001a0003a0019 | a0001c0001a0003c0004a0019c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0156 a0001c0001t0001g0168 others(6): Show |
13 | 300 | 0.0433 | 5 | c.105 others(24): Show |
SEZ6 | ENSG00000063015.21 | transcript | ENST00000317338.17 | protein_coding | 4/16 | chr17 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37961759 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp2 HG01167.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 others(35): Show |
38 | 400 | 0.0950 | 5 | c.137 others(24): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37966935 | C | CAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010 | a0001c0001t0002g0026 a0001c0001t0003g0075 a0001c0001t0003g0225 others(9): Show |
12 | 400 | 0.0300 | 5 | c.137 others(24): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37967677 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 a0001c0001t0005g0373 a0001c0001t0005g0375 others(2): Show |
7 | 400 | 0.0175 | 5 | c.137 others(22): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37986811 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG02080.hp2 HG02148.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(1): Show | a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0293 others(5): Show |
8 | 400 | 0.0200 | 5 | c.303 others(20): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 4/16 | chr1 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197418234 | C | CAAAAA | intron_variant | MODIFIER | HG01981.hp2 HG02109.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0172 others(7): Show |
10 | 344 | 0.0291 | 5 | c.495 others(20): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31511464 | G | GTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01517.hp2 others(15): Show |
a0001a0002a0022 | a0001c0002a0002c0001a0002c0020others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0002t0001g0252 a0002c0001t0001g0221 a0002c0001t0001g0222 others(15): Show |
18 | 322 | 0.0559 | 5 | c.92+ others(20): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31513561 | C | CGTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(86): Show |
a0001a0002a0003others(7): Show | a0001c0002a0002c0001a0002c0020others(10): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(12): Show | a0001c0002t0001g0252 a0002c0001t0001g0210 a0002c0001t0001g0211 others(86): Show |
89 | 322 | 0.2764 | 5 | c.92+ others(20): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31530489 | C | CAAAAA | intron_variant | MODIFIER | HG02523.hp2 HG02683.hp1 HG02895.hp2 others(3): Show |
a0001a0002a0003 | a0001c0006a0002c0001a0003c0003 | a0001c0006t0001a0002c0001t0001a0003c0003t0001 | a0001c0006t0001g0123 a0002c0001t0001g0216 a0002c0001t0001g0237 others(3): Show |
6 | 322 | 0.0186 | 5 | c.267 others(20): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545545 | T | TTTTAA | intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 |
3 | 322 | 0.0093 | 5 | c.339 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545559 | A | AATTTT | intron_variant | MODIFIER | HG02040.hp1 NA18945.hp2 NA18953.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 a0001c0002t0001g0063 a0001c0002t0001g0065 others(4): Show |
7 | 322 | 0.0217 | 5 | c.339 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545564 | A | AATTTT | intron_variant | MODIFIER | NA18946.hp1 NA18971.hp2 NA19090.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 a0001c0002t0001g0102 a0001c0002t0001g0114 |
3 | 322 | 0.0093 | 5 | c.339 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545569 | A | AATTTT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00609.hp2 others(62): Show |
a0001a0002a0008others(6): Show | a0001c0002a0002c0001a0008c0009others(6): Show | a0001c0002t0001a0001c0002t0005a0002c0001t0001others(7): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0021 others(62): Show |
65 | 322 | 0.2019 | 5 | c.339 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545574 | A | AATTTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(19): Show |
a0001a0005a0012others(3): Show | a0001c0002a0001c0006a0005c0005others(4): Show | a0001c0002t0001a0001c0006t0001a0005c0005t0001others(4): Show | a0001c0002t0001g0103 a0001c0002t0001g0138 a0001c0006t0001g0012 others(19): Show |
22 | 322 | 0.0683 | 5 | c.339 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545579 | A | AATTTT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 NA18992.hp2 |
a0005a0033 | a0005c0005a0033c0049 | a0005c0005t0001a0033c0049t0001 | a0005c0005t0001g0133 a0005c0005t0001g0140 a0033c0049t0001g0146 |
3 | 322 | 0.0093 | 5 | c.339 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31549288 | T | TAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01516.hp2 others(19): Show |
a0001a0004a0006others(4): Show | a0001c0002a0001c0026a0004c0004others(6): Show | a0001c0002t0001a0001c0026t0001a0004c0004t0001others(6): Show | a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0027 others(19): Show |
22 | 322 | 0.0683 | 5 | c.450 others(20): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31555137 | C | CTTATA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(163): Show |
a0001a0002a0004others(20): Show | a0001c0002a0001c0006a0001c0026others(29): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(31): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0008 others(163): Show |
166 | 322 | 0.5155 | 5 | c.545 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 6/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31568194 | T | TGTGTG | intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 NA18522.hp1 |
a0007 | a0007c0007a0007c0024 | a0007c0007t0001a0007c0024t0001 | a0007c0007t0001g0299 a0007c0007t0001g0303 a0007c0024t0001g0300 |
3 | 322 | 0.0093 | 5 | c.766 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | chr22 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31582237 | T | TATATA | intron_variant | MODIFIER | HG01167.hp2 HG02559.hp1 HG02896.hp2 others(4): Show |
a0004a0017 | a0004c0004a0017c0016 | a0004c0004t0001a0017c0016t0001 | a0004c0004t0001g0034 a0004c0004t0001g0036 a0004c0004t0001g0037 others(4): Show |
7 | 322 | 0.0217 | 5 | c.124 others(24): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | chr22 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31590975 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp1 HG02818.hp2 others(2): Show |
a0006 | a0006c0008a0006c0013 | a0006c0008t0001a0006c0013t0001 | a0006c0008t0001g0316 a0006c0008t0001g0317 a0006c0008t0001g0320 others(2): Show |
5 | 322 | 0.0155 | 5 | c.154 others(24): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31598716 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp1 HG01993.hp1 others(5): Show |
a0006 | a0006c0008a0006c0013 | a0006c0008t0001a0006c0013t0001 | a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0317 others(5): Show |
8 | 322 | 0.0248 | 5 | c.154 others(24): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52941593 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG00673.hp1 others(45): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(45): Show |
48 | 328 | 0.1463 | 5 | c.364 others(22): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 4/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52951116 | T | TAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01192.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0179 a0001c0001t0001g0182 others(14): Show |
17 | 328 | 0.0518 | 5 | c.123 others(22): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52962808 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00738.hp2 others(75): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0002g0003 others(75): Show |
78 | 328 | 0.2378 | 5 | c.28+ others(20): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52962978 | G | GTTATT | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00738.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 others(18): Show |
21 | 328 | 0.0640 | 5 | c.28+ others(20): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52986774 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01517.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0002g0003 others(7): Show |
10 | 328 | 0.0305 | 5 | c.-13 others(26): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7220826 | C | CTTTCT | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01496.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0011 a0001c0001t0002g0122 a0001c0001t0003g0030 others(12): Show |
15 | 144 | 0.1042 | 5 | c.120 others(22): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 10/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7229724 | G | GTTGTT | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0029 | a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120 others(1): Show |
4 | 144 | 0.0278 | 5 | c.112 others(24): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7257098 | A | AAGGGG | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01891.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0061 a0001c0001t0002g0007 a0001c0001t0002g0039 others(24): Show |
27 | 144 | 0.1875 | 5 | c.871 others(22): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7317641 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00738.hp2 others(69): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0011 a0001c0001t0001g0070 a0001c0001t0001g0125 others(69): Show |
72 | 144 | 0.5000 | 5 | c.437 others(24): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7346988 | T | TCAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01496.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0002g0131 others(13): Show |
16 | 144 | 0.1111 | 5 | c.436 others(24): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7349440 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0017a0001c0001t0019others(2): Show | a0001c0001t0007g0002 a0001c0001t0007g0017 a0001c0001t0017g0021 others(4): Show |
7 | 144 | 0.0486 | 5 | c.436 others(24): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFPQ_chr1_35177936_35198145 | 35196526 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02965.hp1 others(7): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0019 others(3): Show |
10 | 380 | 0.0263 | 5 | c.-34 others(16): Show |
SFPQ | ENSG00000116560.12 | transcript | ENST00000357214.6 | protein_coding | 3382 | chr1 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41290886 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01070.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0077 others(21): Show |
24 | 384 | 0.0625 | 5 | c.622 others(24): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41299662 | C | CAAAAA | intron_variant | MODIFIER | HG01258.hp1 HG01891.hp2 HG01928.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0138 a0001c0001t0002g0232 a0001c0001t0004g0201 others(14): Show |
17 | 384 | 0.0443 | 5 | c.622 others(22): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP2_chr4_153775591_153794083 | 153785554 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(142): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 others(24): Show |
145 | 434 | 0.3341 | 5 | c.583 others(20): Show |
SFRP2 | ENSG00000145423.5 | transcript | ENST00000274063.5 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131769604 | A | ATTTAT | intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0012t0001 | a0001c0001t0002g0019 a0001c0012t0001g0044 a0001c0012t0001g0045 |
3 | 318 | 0.0094 | 5 | c.214 others(24): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131802441 | C | CTTTGT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0183 a0001c0001t0001g0184 others(26): Show |
30 | 318 | 0.0943 | 5 | c.*29 others(16): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 2704 | chr12 | TogoVar | |||||||
SFTPB_chr2_85652314_85673199 | 85667387 | T | TCATCC | intron_variant | MODIFIER | HG03130.hp1 HG03195.hp1 HG03486.hp2 |
a0004 | a0004c0007 | a0004c0007t0005 | a0004c0007t0005g0051 a0004c0007t0005g0300 |
3 | 426 | 0.0070 | 5 | c.196 others(20): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SFTPC_chr8_22156798_22169479 | 22160612 | C | CAACAA | upstream_gene_variant | MODIFIER | HG01361.hp1 HG04228.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0040 |
3 | 466 | 0.0064 | 5 | c.-12 others(16): Show |
SFTPC | ENSG00000168484.13 | transcript | ENST00000679463.1 | protein_coding | 1185 | chr8 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175504003 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00621.hp2 others(36): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0002g0164 a0001c0001t0004g0001 a0001c0001t0004g0030 others(36): Show |
39 | 372 | 0.1048 | 5 | c.165 others(22): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |