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 | 26327226 | ACACACCA others(3): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01496.hp2 others(5): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0002c0005others(2): Show | a0001c0006t0004a0002c0002t0004a0002c0005t0004others(2): Show | a0001c0006t0004g0091 a0001c0006t0004g0198 a0002c0002t0004g0074 others(5): Show |
8 | 240 | 0.0333 | -10 | c.201 others(31): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | chr22 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26355743 | CAGAAAAG others(3): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0092 | 1 | 240 | 0.0042 | -10 | c.259 others(29): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6_chr17_28949905_29011033 | 28954904 | CTTTTTTT others(3): Show |
C | splice_region_variant | LOW | HG02615.hp2 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0224 | 1 | 300 | 0.0033 | -10 | c.*10 others(21): Show |
SEZ6 | ENSG00000063015.21 | transcript | ENST00000317338.17 | protein_coding | 17/17 | chr17 | TogoVar | |||||||
SEZ6_chr17_28949905_29011033 | 28966160 | TAAATAAA others(3): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0044 | 1 | 300 | 0.0033 | -10 | c.105 others(29): Show |
SEZ6 | ENSG00000063015.21 | transcript | ENST00000317338.17 | protein_coding | 4/16 | chr17 | TogoVar | |||||||
SEZ6_chr17_28949905_29011033 | 28979880 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG01433.hp2 others(9): Show |
a0003a0004 | a0003c0002a0004c0005a0004c0015others(1): Show | a0003c0002t0002a0004c0005t0004a0004c0015t0004others(1): Show | a0003c0002t0002g0069 a0003c0002t0002g0128 a0004c0005t0004g0021 others(8): Show |
12 | 300 | 0.0400 | -10 | c.725 others(23): Show |
SEZ6 | ENSG00000063015.21 | transcript | ENST00000317338.17 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37979863 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0022others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0058 others(94): Show |
100 | 400 | 0.2500 | -10 | c.691 others(25): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 8/16 | chr1 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197418234 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01168.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0008 a0001c0001t0001g0151 a0001c0001t0001g0193 others(4): Show |
7 | 344 | 0.0204 | -10 | c.495 others(25): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SF3B2_chr11_66047364_66074308 | 66055690 | TCTCAACT others(3): Show |
T | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 394 | 0.0025 | -10 | c.549 others(25): Show |
SF3B2 | ENSG00000087365.16 | transcript | ENST00000322535.11 | protein_coding | 5/21 | chr11 | TogoVar | |||||||
SF3B2_chr11_66047364_66074308 | 66073916 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 394 | 0.0025 | -10 | c.*51 others(21): Show |
SF3B2 | ENSG00000087365.16 | transcript | ENST00000322535.11 | protein_coding | 4609 | chr11 | TogoVar | |||||||
SF3B3_chr16_70518816_70582668 | 70525957 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0046 | a0001c0002t0010g0028 a0001c0002t0010g0278 a0001c0002t0010g0282 others(5): Show |
8 | 342 | 0.0234 | -10 | c.-70 others(25): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545545 | TTTTAATT others(3): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 322 | 0.0031 | -10 | c.339 others(27): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31549288 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02647.hp1 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0128 a0008c0009t0001g0132 a0008c0009t0001g0134 others(2): Show |
5 | 322 | 0.0155 | -10 | c.450 others(25): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31553838 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 322 | 0.0031 | -10 | c.545 others(27): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 6/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31568210 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0038 | a0006c0038t0001 | a0006c0038t0001g0033 | 1 | 322 | 0.0031 | -10 | c.766 others(27): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31568531 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA18998.hp2 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 |
3 | 322 | 0.0093 | -10 | c.766 others(27): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31575085 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 322 | 0.0031 | -10 | c.923 others(25): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582204 | TTTTATAT others(3): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG03130.hp2 NA18962.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0003a0004c0004t0001 | a0002c0002t0003g0124 a0002c0002t0003g0125 a0004c0004t0001g0052 |
3 | 322 | 0.0093 | -10 | c.124 others(29): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31612398 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG02630.hp1 others(3): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 others(3): Show |
6 | 322 | 0.0186 | -10 | c.249 others(27): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52962978 | GTTATTTT others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(157): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(157): Show |
160 | 328 | 0.4878 | -10 | c.28+ others(25): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52966005 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 328 | 0.0031 | -10 | c.28+ others(25): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52972744 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0145 a0001c0001t0004g0321 a0001c0001t0004g0323 others(3): Show |
6 | 328 | 0.0183 | -10 | c.-13 others(29): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52982729 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01943.hp2 HG01993.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0154 a0001c0001t0002g0272 a0001c0001t0002g0273 others(15): Show |
18 | 328 | 0.0549 | -10 | c.-13 others(31): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52984726 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01070.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(33): Show |
36 | 328 | 0.1098 | -10 | c.-13 others(31): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53001925 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 328 | 0.0031 | -10 | c.-13 others(31): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53001964 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 328 | 0.0031 | -10 | c.-13 others(31): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53014472 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02970.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 a0001c0001t0002g0169 |
2 | 328 | 0.0061 | -10 | c.-13 others(31): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53014476 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01891.hp1 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0289 a0001c0001t0002g0003 others(47): Show |
50 | 328 | 0.1524 | -10 | c.-13 others(31): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53040968 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp2 HG01943.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(22): Show |
25 | 328 | 0.0762 | -10 | c.-13 others(29): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53041698 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0290 a0001c0001t0004g0321 |
2 | 328 | 0.0061 | -10 | c.-13 others(29): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7155483 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02630.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0005a0005c0009t0005 | a0001c0001t0005g0012 a0001c0001t0005g0064 a0001c0001t0005g0092 others(4): Show |
7 | 144 | 0.0486 | -10 | c.*82 others(21): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 3140 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7228738 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02630.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0022 | a0001c0001t0002g0039 a0001c0001t0005g0092 a0001c0001t0022g0128 |
3 | 144 | 0.0208 | -10 | c.112 others(27): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7315028 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0130 | 1 | 144 | 0.0069 | -10 | c.437 others(29): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7319810 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 144 | 0.0069 | -10 | c.437 others(29): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7342396 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0114 a0001c0003t0006g0035 |
2 | 144 | 0.0139 | -10 | c.436 others(29): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7346988 | TCAAAACA others(3): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02258.hp1 others(5): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0029others(5): Show | a0001c0001t0002g0039 a0001c0001t0004g0069 a0001c0001t0029g0041 others(5): Show |
8 | 144 | 0.0556 | -10 | c.436 others(29): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7375751 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0061 a0001c0001t0002g0039 a0001c0001t0004g0028 others(15): Show |
18 | 144 | 0.1250 | -10 | c.101 others(27): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7392983 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0094 | 1 | 144 | 0.0069 | -10 | c.-51 others(29): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
SFN_chr1_26858149_26869456 | 26868246 | TTTTCTCT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 332 | 0.0030 | -10 | c.*42 others(21): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3791 | chr1 | TogoVar | |||||||
SFN_chr1_26858149_26869456 | 26868248 | TTCTCTCT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01433.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show |
14 | 332 | 0.0422 | -10 | c.*42 others(21): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3793 | chr1 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41288530 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(76): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0124 others(76): Show |
79 | 384 | 0.2057 | -10 | c.622 others(29): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41290886 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037 | a0001c0001t0003g0116 a0001c0001t0037g0237 |
2 | 384 | 0.0052 | -10 | c.622 others(29): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41298541 | GGACTACA others(3): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 384 | 0.0026 | -10 | c.622 others(27): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41299499 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03471.hp2 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0026 | a0001c0001t0003g0097 a0001c0001t0003g0193 a0001c0001t0010g0255 others(1): Show |
4 | 384 | 0.0104 | -10 | c.622 others(27): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP2_chr4_153775591_153794083 | 153789505 | GGTGTGTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00733.hp2 others(94): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(20): Show |
97 | 434 | 0.2235 | -10 | c.-68 others(19): Show |
SFRP2 | ENSG00000145423.5 | transcript | ENST00000274063.5 | protein_coding | 423 | chr4 | TogoVar | |||||||
SFRP2_chr4_153775591_153794083 | 153791238 | CGGCGTCC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00741.hp1 others(32): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0043 others(4): Show |
35 | 434 | 0.0807 | -10 | c.-24 others(21): Show |
SFRP2 | ENSG00000145423.5 | transcript | ENST00000274063.5 | protein_coding | 2156 | chr4 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131739536 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 318 | 0.0031 | -10 | c.108 others(31): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131783792 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 318 | 0.0031 | -10 | c.240 others(29): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131801532 | TTGCCATG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01167.hp2 others(52): Show |
a0001a0002a0008 | a0001c0001a0001c0011a0001c0029others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0011t0002others(5): Show | a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 others(51): Show |
55 | 318 | 0.1730 | -10 | c.*20 others(21): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 1795 | chr12 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131801598 | TTTGCCGT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00609.hp1 others(80): Show |
a0000a0001a0006others(3): Show | a0000c0005a0001c0001a0006c0024others(3): Show | a0000c0005t0001a0001c0001t0001a0001c0001t0002others(4): Show | a0000c0005t0001g0120 a0000c0005t0001g0121 a0000c0005t0001g0199 others(79): Show |
83 | 318 | 0.2610 | -10 | c.*21 others(21): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 1861 | chr12 | TogoVar | |||||||
SFTA2_chr6_30926353_30937170 | 30928031 | GTTTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(110): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0002t0001g0001 |
113 | 435 | 0.2598 | -10 | c.*34 others(21): Show |
SFTA2 | ENSG00000196260.5 | transcript | ENST00000359086.4 | protein_coding | 3321 | chr6 | TogoVar |