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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SREK1IP1_chr5_64713148_64773691 | 64724681 | TA | T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(20): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0008a0001c0003t0010a0001c0003t0013others(4): Show | a0001c0003t0008g0065 a0001c0003t0008g0066 a0001c0003t0008g0067 others(20): Show |
23 | 342 | 0.0673 | -1 | c.279 others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64725841 | GT | G | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01109.hp2 others(30): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0009a0001c0003t0012others(2): Show | a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0030 others(28): Show |
33 | 342 | 0.0965 | -1 | c.279 others(9): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64725861 | CT | C | intron_variant | MODIFIER | HG01256.hp2 HG02055.hp2 HG02109.hp1 others(20): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0008a0001c0003t0010others(4): Show | a0001c0002t0002g0104 a0001c0003t0008g0065 a0001c0003t0008g0066 others(20): Show |
23 | 342 | 0.0673 | -1 | c.279 others(9): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64728113 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0004 | a0004c0008 | a0004c0008t0027 | a0004c0008t0027g0140 | 1 | 342 | 0.0029 | -1 | c.271 others(4): Show |
p.Arg others(4): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 4/5 | 445/6878 | 271/468 | 91/155 | chr5 | TogoVar | |||
SREK1IP1_chr5_64713148_64773691 | 64728176 | AT | A | frameshift_variant others(1): Show |
HIGH | NA19075.hp1 | a0004 | a0004c0008 | a0004c0008t0027 | a0004c0008t0027g0140 | 1 | 342 | 0.0029 | -1 | c.208 others(4): Show |
p.Ile others(4): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 4/5 | 382/6878 | 208/468 | 70/155 | chr5 | TogoVar | |||
SREK1IP1_chr5_64713148_64773691 | 64735162 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(191): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0020 others(165): Show |
194 | 342 | 0.5673 | -1 | c.205 others(9): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64736210 | TA | T | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01257.hp1 others(23): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0009a0001c0003t0015 | a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0030 others(21): Show |
26 | 342 | 0.0760 | -1 | c.205 others(9): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64736814 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0033a0001c0001t0037others(1): Show | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0074 others(11): Show |
16 | 342 | 0.0468 | -1 | c.205 others(9): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64737507 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01167.hp1 others(46): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0005a0001c0003t0008a0001c0003t0010others(7): Show | a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0030 others(44): Show |
49 | 342 | 0.1433 | -1 | c.205 others(9): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64741987 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0020 others(192): Show |
223 | 342 | 0.6521 | -1 | c.62- others(7): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64747504 | AT | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(18): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0008a0001c0003t0010a0001c0003t0013others(4): Show | a0001c0003t0008g0065 a0001c0003t0008g0066 a0001c0003t0008g0067 others(18): Show |
21 | 342 | 0.0614 | -1 | c.62- others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64749437 | CT | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(17): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0008a0001c0003t0010a0001c0003t0013others(4): Show | a0001c0003t0008g0066 a0001c0003t0008g0067 a0001c0003t0008g0068 others(17): Show |
20 | 342 | 0.0585 | -1 | c.61+ others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64752145 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0001t0017a0001c0001t0029others(11): Show | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0074 others(37): Show |
44 | 342 | 0.1287 | -1 | c.61+ others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64754334 | GC | G | frameshift_variant | HIGH | NA19086.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0241 | 1 | 342 | 0.0029 | -1 | c.41d others(3): Show |
p.Gly others(4): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2/5 | 215/6878 | 41/468 | 14/155 | chr5 | TogoVar | |||
SREK1IP1_chr5_64713148_64773691 | 64755219 | CA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(18): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0008a0001c0003t0010a0001c0003t0013others(4): Show | a0001c0003t0008g0065 a0001c0003t0008g0066 a0001c0003t0008g0067 others(18): Show |
21 | 342 | 0.0614 | -1 | c.14- others(7): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64757861 | CT | C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0004a0001c0003t0005others(3): Show | a0001c0002t0002g0123 a0001c0002t0004g0235 a0001c0002t0004g0236 others(8): Show |
11 | 342 | 0.0322 | -1 | c.14- others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64759736 | AC | A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0091 a0001c0003t0009g0093 a0001c0003t0009g0094 others(3): Show |
6 | 342 | 0.0175 | -1 | c.14- others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64761878 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(142): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0020 others(118): Show |
145 | 342 | 0.4240 | -1 | c.13+ others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64763566 | AG | A | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG02738.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 |
3 | 342 | 0.0088 | -1 | c.13+ others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64764137 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(182): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0020 others(156): Show |
185 | 342 | 0.5409 | -1 | c.13+ others(8): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64772624 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01361.hp1 HG02055.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0016others(6): Show | a0001c0001t0003g0009 a0001c0001t0006g0083 a0001c0001t0016g0138 others(8): Show |
12 | 342 | 0.0351 | -1 | c.-41 others(6): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3934 | chr5 | TogoVar | |||||||
SREK1_chr5_66139300_66188615 | 66148493 | AT | A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016a0001c0001t0038 | a0001c0001t0010g0008 a0001c0001t0010g0235 a0001c0001t0010g0237 others(2): Show |
8 | 386 | 0.0207 | -1 | c.161 others(9): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66148822 | GT | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(180): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0034 others(121): Show |
183 | 386 | 0.4741 | -1 | c.161 others(9): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66149349 | CA | C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016a0001c0001t0038 | a0001c0001t0010g0008 a0001c0001t0010g0235 a0001c0001t0010g0237 others(2): Show |
8 | 386 | 0.0207 | -1 | c.162 others(9): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66151834 | CT | C | intron_variant | MODIFIER | HG01167.hp2 HG01943.hp1 NA18957.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0156 others(4): Show |
8 | 386 | 0.0207 | -1 | c.162 others(9): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66152534 | GT | G | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016a0001c0001t0038 | a0001c0001t0010g0008 a0001c0001t0010g0235 a0001c0001t0010g0237 others(2): Show |
8 | 386 | 0.0207 | -1 | c.162 others(8): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66153282 | GA | G | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016a0001c0001t0038 | a0001c0001t0010g0008 a0001c0001t0010g0235 a0001c0001t0010g0237 others(2): Show |
8 | 386 | 0.0207 | -1 | c.162 others(8): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SREK1_chr5_66139300_66188615 | 66156591 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG01346.hp1 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0002g0014 |
4 | 386 | 0.0104 | -1 | c.296 others(9): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
SREK1_chr5_66139300_66188615 | 66158111 | AT | A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0005g0221 a0001c0001t0010g0008 a0001c0001t0010g0235 others(3): Show |
9 | 386 | 0.0233 | -1 | c.296 others(9): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66158455 | TC | T | intron_variant | MODIFIER | HG02818.hp2 HG02965.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0028 a0001c0001t0008g0060 |
3 | 386 | 0.0078 | -1 | c.296 others(8): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66159430 | CT | C | intron_variant | MODIFIER | HG03017.hp1 HG03491.hp1 NA18946.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0110 a0001c0001t0002g0114 a0001c0001t0002g0183 others(3): Show |
6 | 386 | 0.0155 | -1 | c.411 others(8): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66160255 | CT | C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0027 | a0001c0001t0004g0032 a0001c0001t0014g0064 a0001c0001t0014g0065 others(1): Show |
5 | 386 | 0.0130 | -1 | c.411 others(8): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66160767 | AT | A | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0037 a0001c0001t0002g0227 a0001c0001t0006g0037 |
3 | 386 | 0.0078 | -1 | c.412 others(9): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 3/11 | chr5 | TogoVar | |||||||
SREK1_chr5_66139300_66188615 | 66166472 | CT | C | intron_variant | MODIFIER | HG01167.hp1 HG01358.hp2 HG01884.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0141 others(17): Show |
22 | 386 | 0.0570 | -1 | c.100 others(10): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66168125 | TA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(184): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0025 others(123): Show |
187 | 386 | 0.4845 | -1 | c.100 others(10): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66172824 | AT | A | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0138 others(7): Show |
13 | 386 | 0.0337 | -1 | c.148 others(10): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66181347 | TC | T | 3_prime_UTR_variant | MODIFIER | NA18970.hp2 NA19058.hp2 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0016 a0001c0001t0013g0209 |
4 | 386 | 0.0104 | -1 | c.*24 others(6): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 12/12 | 2480 | chr5 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66181900 | CG | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00741.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(9): Show | a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0004g0013 others(53): Show |
76 | 386 | 0.1969 | -1 | c.*30 others(6): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 12/12 | 3045 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SREK1_chr5_66139300_66188615 | 66187440 | CA | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02976.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0017 a0001c0001t0008g0017 a0001c0001t0008g0030 |
3 | 386 | 0.0078 | -1 | c.*85 others(6): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 3826 | chr5 | TogoVar | |||||||
SRFBP1_chr5_121956975_122033633 | 121961906 | CA | C | upstream_gene_variant | MODIFIER | HG02132.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0143 |
2 | 228 | 0.0088 | -1 | c.-12 others(5): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 68 | chr5 | TogoVar | |||||||
SRFBP1_chr5_121956975_122033633 | 121966762 | AT | A | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG01928.hp1 others(23): Show |
a0002a0004a0006 | a0002c0003a0002c0014a0002c0015others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0014t0010others(3): Show | a0002c0003t0001g0197 a0002c0003t0002g0002 a0002c0003t0002g0027 others(20): Show |
26 | 228 | 0.1140 | -1 | c.36+ others(8): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 121966946 | AT | A | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01255.hp1 others(42): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(6): Show | a0001c0001t0001g0198 a0001c0001t0007g0202 a0001c0001t0007g0203 others(37): Show |
45 | 228 | 0.1974 | -1 | c.36+ others(8): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 121981229 | GA | G | intron_variant | MODIFIER | HG01433.hp1 HG01928.hp1 HG02132.hp1 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0197 a0002c0003t0002g0002 a0002c0003t0002g0027 others(12): Show |
18 | 228 | 0.0790 | -1 | c.198 others(9): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 121981553 | CT | C | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01255.hp1 others(5): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0172 others(5): Show |
8 | 228 | 0.0351 | -1 | c.198 others(9): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 122001546 | CT | C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01070.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0112 a0001c0001t0001g0127 others(7): Show |
10 | 228 | 0.0439 | -1 | c.270 others(9): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 122003346 | GA | G | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01255.hp1 others(36): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0007a0002c0003t0001others(7): Show | a0001c0001t0001g0198 a0001c0001t0007g0202 a0001c0001t0007g0203 others(33): Show |
39 | 228 | 0.1711 | -1 | c.270 others(9): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 122010637 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00639.hp2 others(92): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0198 others(82): Show |
95 | 228 | 0.4167 | -1 | c.271 others(9): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 122021668 | CT | C | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02257.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0007a0002c0005t0005others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0109 a0001c0001t0001g0198 others(12): Show |
15 | 228 | 0.0658 | -1 | c.106 others(9): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 122028604 | CA | C | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02055.hp1 others(4): Show |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0022 a0002c0005t0005g0023 a0002c0005t0005g0024 others(4): Show |
7 | 228 | 0.0307 | -1 | c.*14 others(6): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 8/8 | 1493 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SRFBP1_chr5_121956975_122033633 | 122028669 | AT | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0198 a0001c0001t0007g0202 a0001c0001t0007g0203 |
3 | 228 | 0.0132 | -1 | c.*15 others(6): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 37 | chr5 | TogoVar |