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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SETX_chr9_132256356_132359986 | 132268983 | AATGACTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(88): Show |
a0003a0005a0009others(7): Show | a0003c0003a0003c0024a0003c0053others(9): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0021others(11): Show | a0003c0003t0002g0054 a0003c0003t0002g0064 a0003c0003t0002g0065 others(88): Show |
91 | 362 | 0.2514 | -8 | c.728 others(25): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132278437 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01169.hp2 others(27): Show |
a0004a0006a0012others(2): Show | a0004c0005a0004c0009a0004c0020others(5): Show | a0004c0005t0003a0004c0005t0004a0004c0009t0004others(7): Show | a0004c0005t0003g0119 a0004c0005t0004g0075 a0004c0005t0004g0076 others(27): Show |
30 | 362 | 0.0829 | -8 | c.665 others(25): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 20/25 | chr9 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132290839 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp2 others(58): Show |
a0003a0006a0011others(8): Show | a0003c0003a0003c0024a0003c0053others(13): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0021others(15): Show | a0003c0003t0002g0054 a0003c0003t0002g0064 a0003c0003t0002g0065 others(58): Show |
61 | 362 | 0.1685 | -8 | c.610 others(27): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 15/25 | chr9 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132355989 | GAAAAAAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(58): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0006others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0053 a0002c0002t0003g0004 others(58): Show |
61 | 362 | 0.1685 | -8 | c.-11 others(19): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 1004 | chr9 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132357914 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00673.hp1 others(25): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0017a0001c0032others(10): Show | a0001c0001t0001a0001c0017t0016a0001c0032t0001others(10): Show | a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0272 others(24): Show |
28 | 362 | 0.0774 | -8 | c.-31 others(19): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 2929 | chr9 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29874550 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp2 others(33): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0010 | a0001c0001t0004a0003c0003t0002a0003c0003t0004others(3): Show | a0001c0001t0004g0068 a0001c0001t0004g0081 a0003c0003t0002g0001 others(20): Show |
36 | 308 | 0.1169 | -8 | c.210 others(25): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 12/17 | chr16 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26208846 | CTCTCTGT others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG01928.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0002g0221 others(9): Show |
12 | 240 | 0.0500 | -8 | c.94+ others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26208850 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01169.hp2 others(12): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0127 a0001c0001t0004g0173 a0001c0001t0005g0029 others(12): Show |
15 | 240 | 0.0625 | -8 | c.94+ others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26209466 | TATGGATG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00642.hp1 others(81): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0129 a0001c0001t0001g0227 a0001c0001t0002g0012 others(81): Show |
84 | 240 | 0.3500 | -8 | c.94+ others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26220892 | AATGGATG others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG02630.hp2 HG02647.hp2 others(3): Show |
a0001a0002a0013 | a0001c0001a0002c0012a0013c0020 | a0001c0001t0003a0002c0012t0001a0002c0012t0004others(1): Show | a0001c0001t0003g0213 a0002c0012t0001g0148 a0002c0012t0001g0151 others(3): Show |
6 | 240 | 0.0250 | -8 | c.94+ others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26232346 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00738.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0002g0170 others(30): Show |
33 | 240 | 0.1375 | -8 | c.95- others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26240084 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01175.hp2 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0036others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0129 a0001c0001t0001g0227 a0001c0001t0002g0128 others(19): Show |
22 | 240 | 0.0917 | -8 | c.95- others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26266574 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG03098.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0006a0003c0004t0006a0003c0004t0026 | a0002c0002t0006g0062 a0002c0002t0006g0174 a0003c0004t0006g0179 others(1): Show |
4 | 240 | 0.0167 | -8 | c.95- others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26281151 | AATTAATG others(1): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0001a0001c0003t0016others(1): Show | a0001c0001t0002g0068 a0001c0001t0002g0086 a0001c0001t0002g0136 others(4): Show |
7 | 240 | 0.0292 | -8 | c.95- others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26284604 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(30): Show | a0001c0001t0001g0212 a0001c0001t0006g0061 a0001c0001t0007g0025 others(42): Show |
45 | 240 | 0.1875 | -8 | c.95- others(23): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26291976 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(30): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0116 a0001c0001t0001g0155 a0001c0001t0001g0156 others(30): Show |
33 | 240 | 0.1375 | -8 | c.95- others(21): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26292030 | AGGAAGGA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01256.hp2 others(22): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0007others(9): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(18): Show | a0001c0003t0001g0180 a0001c0003t0002g0040 a0001c0003t0002g0044 others(22): Show |
25 | 240 | 0.1042 | -8 | c.95- others(21): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26294721 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0036others(8): Show | a0001c0003t0022a0001c0007t0001a0001c0007t0003others(18): Show | a0001c0003t0022g0209 a0001c0007t0001g0108 a0001c0007t0001g0153 others(30): Show |
33 | 240 | 0.1375 | -8 | c.969 others(23): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26304369 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00621.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0219 a0001c0001t0003g0132 a0001c0001t0003g0137 others(13): Show |
16 | 240 | 0.0667 | -8 | c.134 others(27): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26313596 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01070.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0012others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0003g0085 others(14): Show |
17 | 240 | 0.0708 | -8 | c.187 others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26325776 | GATGAAAT others(1): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01496.hp2 others(4): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0005others(1): Show | a0001c0006t0004a0002c0002t0004a0002c0005t0004others(1): Show | a0001c0006t0004g0091 a0001c0006t0004g0198 a0002c0002t0004g0074 others(4): Show |
7 | 240 | 0.0292 | -8 | c.201 others(29): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26325927 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01256.hp2 others(22): Show |
a0001a0003a0010 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0002g0057 a0001c0001t0002g0142 a0001c0001t0002g0145 others(22): Show |
25 | 240 | 0.1042 | -8 | c.201 others(29): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348513 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp1 HG01074.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0012 a0001c0001t0002g0068 a0001c0001t0002g0077 others(17): Show |
20 | 240 | 0.0833 | -8 | c.240 others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348642 | AAGAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0002 | a0001c0001t0002g0221 a0001c0010t0002g0239 a0001c0010t0002g0240 |
3 | 240 | 0.0125 | -8 | c.240 others(25): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6_chr17_28949905_29011033 | 28979880 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01106.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0002others(2): Show | a0001c0001t0001a0002c0004t0002a0003c0002t0001others(3): Show | a0001c0001t0001g0236 a0002c0004t0002g0080 a0003c0002t0001g0003 others(33): Show |
46 | 300 | 0.1533 | -8 | c.725 others(21): Show |
SEZ6 | ENSG00000063015.21 | transcript | ENST00000317338.17 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
SEZ6_chr17_28949905_29011033 | 29005078 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG03098.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(1): Show |
4 | 300 | 0.0133 | -8 | c.55+ others(21): Show |
SEZ6 | ENSG00000063015.21 | transcript | ENST00000317338.17 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37962285 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(85): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 others(82): Show |
88 | 400 | 0.2200 | -8 | c.137 others(27): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37963872 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 HG01993.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0038 | a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0059 others(8): Show |
13 | 400 | 0.0325 | -8 | c.137 others(27): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3B2_chr11_66047364_66074308 | 66051701 | GGAGAAGA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0035 others(2): Show |
21 | 394 | 0.0533 | -8 | c.-68 others(17): Show |
SF3B2 | ENSG00000087365.16 | transcript | ENST00000322535.11 | protein_coding | 662 | chr11 | TogoVar | |||||||
SF3B3_chr16_70518816_70582668 | 70530127 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01516.hp2 HG01934.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0046 | a0001c0002t0010g0028 a0001c0002t0010g0278 a0001c0002t0010g0284 others(3): Show |
6 | 342 | 0.0175 | -8 | c.398 others(23): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SF3B6_chr2_24062586_24081326 | 24075333 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0020 others(9): Show |
44 | 350 | 0.1257 | -8 | c.30+ others(21): Show |
SF3B6 | ENSG00000115128.7 | transcript | ENST00000233468.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31525717 | CATAGATA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(89): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0044others(9): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0109 a0001c0001t0001g0210 a0001c0001t0001g0215 others(89): Show |
92 | 322 | 0.2857 | -8 | c.93- others(23): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31553838 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(68): Show |
a0001a0002a0011others(5): Show | a0001c0001a0002c0002a0002c0044others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(7): Show | a0001c0001t0001g0109 a0002c0002t0001g0001 a0002c0002t0001g0002 others(68): Show |
71 | 322 | 0.2205 | -8 | c.545 others(25): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 6/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31575085 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01257.hp1 others(4): Show |
a0001a0002a0012 | a0001c0001a0002c0006a0012c0019 | a0001c0001t0001a0002c0006t0001a0012c0019t0001 | a0001c0001t0001g0237 a0002c0006t0001g0012 a0002c0006t0001g0013 others(4): Show |
7 | 322 | 0.0217 | -8 | c.923 others(23): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52928649 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG03486.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 |
3 | 328 | 0.0092 | -8 | c.898 others(23): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52941593 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(10): Show |
13 | 328 | 0.0396 | -8 | c.364 others(25): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 4/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52972744 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0002g0068 |
3 | 328 | 0.0092 | -8 | c.-13 others(27): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52982729 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324 others(3): Show |
6 | 328 | 0.0183 | -8 | c.-13 others(29): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52984726 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0040 a0001c0001t0001g0200 a0001c0001t0004g0295 others(1): Show |
4 | 328 | 0.0122 | -8 | c.-13 others(29): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53045681 | CGCCCGGC others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 others(2): Show |
5 | 328 | 0.0152 | -8 | c.-13 others(25): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7164746 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02257.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0005a0001c0001t0009a0001c0001t0016others(3): Show | a0001c0001t0005g0012 a0001c0001t0005g0027 a0001c0001t0005g0064 others(14): Show |
17 | 144 | 0.1181 | -8 | c.254 others(25): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 20/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7217471 | CATGTAAG others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0055 a0001c0001t0014g0054 |
2 | 144 | 0.0139 | -8 | c.133 others(27): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 11/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7228672 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01243.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0011 a0001c0001t0001g0061 a0001c0001t0002g0039 others(20): Show |
23 | 144 | 0.1597 | -8 | c.112 others(25): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7228731 | CTTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG01993.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0033 | a0001c0001t0003g0138 a0001c0001t0033g0142 |
2 | 144 | 0.0139 | -8 | c.112 others(25): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7228738 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02451.hp1 HG02572.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0002g0095 others(5): Show |
8 | 144 | 0.0556 | -8 | c.112 others(25): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7315038 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG02293.hp2 HG02723.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0016 | a0001c0001t0003g0141 a0001c0001t0014g0097 a0001c0001t0016g0029 |
3 | 144 | 0.0208 | -8 | c.437 others(27): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7315120 | AAGCAAGC others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0002g0039 a0001c0001t0005g0092 a0001c0001t0009g0117 others(3): Show |
6 | 144 | 0.0417 | -8 | c.437 others(27): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7319880 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02922.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0004g0028 a0001c0001t0004g0077 a0001c0001t0009g0043 others(3): Show |
6 | 144 | 0.0417 | -8 | c.437 others(27): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7335582 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0001 | a0001c0001t0014g0060 a0001c0002t0001g0009 |
2 | 144 | 0.0139 | -8 | c.436 others(27): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7375751 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG01928.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0139 a0001c0001t0002g0122 a0001c0001t0002g0131 others(6): Show |
9 | 144 | 0.0625 | -8 | c.101 others(25): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 2/20 | chr10 | TogoVar |