regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OLFML3_chr1_113974474_113987253 | 113983708 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | NA18943.hp2 NA19003.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 3 | 460 | 0.0065 | -8 | c.*19 others(19): Show |
OLFML3 | ENSG00000116774.12 | transcript | ENST00000320334.5 | protein_coding | 1456 | chr1 | TogoVar | ||||||
OLIG3_chr6_137487199_137499394 | 137498658 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(120): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0013g0000others(6): Show | 123 | 452 | 0.2721 | -8 | c.-44 others(19): Show |
OLIG3 | ENSG00000177468.7 | transcript | ENST00000367734.4 | protein_coding | 4265 | chr6 | TogoVar | ||||||
OLR1_chr12_10153301_10177132 | 10169250 | CTGTACTT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0112a0001c0001t0002g0110a0001c0001t0006g0006others(1): Show | 11 | 402 | 0.0274 | -8 | c.77- others(19): Show |
OLR1 | ENSG00000173391.9 | transcript | ENST00000309539.8 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
OMA1_chr1_58475719_58551726 | 58499501 | GATAGATA others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02622.hp1 others(4): Show |
a0002a0003a0005 | a0002c0003a0003c0004a0005c0006 | a0002c0003t0001a0003c0004t0001a0005c0006t0001 | a0002c0003t0001g0345a0003c0004t0001g0004a0003c0004t0001g0065others(2): Show | 7 | 384 | 0.0182 | -8 | c.136 others(27): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
OMA1_chr1_58475719_58551726 | 58541293 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01258.hp2 HG02055.hp1 others(8): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0004a0005c0006others(1): Show | a0001c0001t0001a0003c0004t0001a0005c0006t0001others(1): Show | a0001c0001t0001g0162a0001c0001t0001g0163a0003c0004t0001g0004others(7): Show | 11 | 384 | 0.0287 | -8 | c.-16 others(25): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
OMA1_chr1_58475719_58551726 | 58541746 | TTATCTGA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00735.hp2 others(34): Show |
a0003a0005a0008 | a0003c0004a0005c0006a0008c0013 | a0003c0004t0001a0005c0006t0001a0008c0013t0001 | a0003c0004t0001g0003a0003c0004t0001g0004a0003c0004t0001g0049others(31): Show | 37 | 384 | 0.0964 | -8 | c.-16 others(25): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
OMG_chr17_31289647_31302239 | 31291005 | GAAATAAA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01069.hp2 others(65): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0002g0004a0003c0003t0001g0003 | 68 | 364 | 0.1868 | -8 | c.*39 others(19): Show |
OMG | ENSG00000126861.5 | transcript | ENST00000247271.5 | protein_coding | 3641 | chr17 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52775452 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03688.hp1 NA18942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0037a0001c0002t0006others(1): Show | a0001c0001t0002g0268a0001c0001t0037g0147a0001c0002t0006g0315others(1): Show | 4 | 412 | 0.0097 | -8 | c.110 others(29): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT3_chr19_1748506_1785988 | 1771988 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02738.hp2 others(8): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0016a0001c0001t0051a0001c0001t0054others(7): Show | a0001c0001t0016g0003a0001c0001t0016g0113a0001c0001t0051g0016others(8): Show | 11 | 370 | 0.0297 | -8 | c.119 others(27): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ONECUT3_chr19_1748506_1785988 | 1778866 | TCACACAC others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0110a0001c0001t0123a0001c0001t0272others(2): Show | a0001c0001t0110g0021a0001c0001t0123g0269a0001c0001t0272g0218others(2): Show | 6 | 370 | 0.0162 | -8 | c.*34 others(19): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 2/2 | 3461 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
OOSP1_chr11_59933432_59962480 | 59946915 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(38): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0019others(30): Show | 41 | 386 | 0.1062 | -8 | c.357 others(23): Show |
OOSP1 | ENSG00000284873.1 | transcript | ENST00000646685.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OOSP1_chr11_59933432_59962480 | 59954629 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080a0001c0001t0001g0094a0001c0001t0001g0171others(1): Show | 4 | 386 | 0.0104 | -8 | c.487 others(25): Show |
OOSP1 | ENSG00000284873.1 | transcript | ENST00000646685.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OOSP3_chr11_59873782_59901483 | 59884475 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01123.hp2 HG01934.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(5): Show | 14 | 342 | 0.0409 | -8 | c.252 others(25): Show |
OOSP3 | ENSG00000285231.2 | transcript | ENST00000646438.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OPA3_chr19_45541281_45589802 | 45544795 | AAAATAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02109.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0001c0001t0030a0001c0001t0032others(8): Show | a0001c0001t0008g0003a0001c0001t0030g0029a0001c0001t0030g0045others(9): Show | 13 | 398 | 0.0327 | -8 | c.*87 others(19): Show |
OPA3 | ENSG00000125741.6 | transcript | ENST00000263275.5 | protein_coding | 1485 | chr19 | TogoVar | ||||||
OPA3_chr19_45541281_45589802 | 45572797 | ATATCATA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(35): Show | a0001c0001t0003g0031a0001c0001t0003g0037a0001c0001t0003g0041others(72): Show | 79 | 398 | 0.1985 | -8 | c.142 others(27): Show |
OPA3 | ENSG00000125741.6 | transcript | ENST00000263275.5 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
OPALIN_chr10_96338221_96364002 | 96355096 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01257.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0012others(18): Show | 39 | 402 | 0.0970 | -8 | c.39+ others(21): Show |
OPALIN | ENSG00000197430.11 | transcript | ENST00000371172.8 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132459410 | CACATACA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0005g0020a0001c0001t0005g0023a0001c0001t0005g0025others(6): Show | 9 | 68 | 0.1324 | -8 | c.506 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132558473 | CCTCCTCC others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01109.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0028others(46): Show | 49 | 68 | 0.7206 | -8 | c.380 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132570755 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0029 | a0001c0001t0028g0059a0001c0001t0029g0058 | 2 | 68 | 0.0294 | -8 | c.380 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132582104 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0034a0001c0001t0002g0002others(3): Show | 6 | 68 | 0.0882 | -8 | c.380 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132618954 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01255.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0015a0001c0001t0002g0002a0001c0001t0002g0009others(10): Show | 13 | 68 | 0.1912 | -8 | c.379 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132626812 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0002g0002a0001c0001t0002g0022others(4): Show | 7 | 68 | 0.1029 | -8 | c.379 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132631352 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0002g0002a0001c0001t0002g0022others(4): Show | 7 | 68 | 0.1029 | -8 | c.379 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132675175 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027 | a0001c0001t0005g0023a0001c0001t0027g0055 | 2 | 68 | 0.0294 | -8 | c.147 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132687369 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0014 | a0001c0001t0006g0045a0001c0001t0011g0056a0001c0001t0014g0017 | 3 | 68 | 0.0441 | -8 | c.147 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132688956 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0047a0001c0001t0003g0044a0001c0001t0006g0045others(3): Show | 6 | 68 | 0.0882 | -8 | c.147 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132697976 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG01516.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0035a0001c0001t0002g0009others(9): Show | 12 | 68 | 0.1765 | -8 | c.147 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132716412 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01255.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0049a0001c0001t0003g0016others(6): Show | 9 | 68 | 0.1324 | -8 | c.147 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132745576 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0003a0001c0001t0003g0031a0001c0001t0004g0018others(7): Show | 10 | 68 | 0.1471 | -8 | c.147 others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132820061 | CTGAATGA others(1): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0018 | a0001c0001t0016g0012a0001c0001t0018g0008 | 2 | 68 | 0.0294 | -8 | c.146 others(29): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132989602 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0029 | a0001c0001t0010g0061a0001c0001t0029g0058 | 2 | 68 | 0.0294 | -8 | c.62- others(25): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133015395 | TGAAGGAA others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01258.hp1 HG01891.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0028a0001c0001t0003g0046a0001c0001t0004g0007others(13): Show | 16 | 68 | 0.2353 | -8 | c.62- others(25): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133136828 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02965.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0049a0001c0001t0003g0050a0001c0001t0004g0007others(3): Show | 6 | 68 | 0.0882 | -8 | c.62- others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133204868 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01258.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0042a0001c0001t0007g0029 | 2 | 68 | 0.0294 | -8 | c.62- others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133247540 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0035a0001c0001t0005g0020 | 2 | 68 | 0.0294 | -8 | c.61+ others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133250535 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01192.hp2 HG01255.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0002g0022others(11): Show | 14 | 68 | 0.2059 | -8 | c.61+ others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133293894 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0026 | a0001c0001t0012g0068a0001c0001t0026g0053 | 2 | 68 | 0.0294 | -8 | c.61+ others(27): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133483674 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG02647.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0049a0001c0001t0004g0018a0001c0001t0007g0040others(3): Show | 6 | 68 | 0.0882 | -8 | c.61+ others(25): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133484030 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01192.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0049others(17): Show | 20 | 68 | 0.2941 | -8 | c.61+ others(25): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133529110 | GACTCAAA others(1): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0028a0001c0001t0011g0057 | 2 | 68 | 0.0294 | -8 | c.61+ others(23): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68037920 | GGGAAGGA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00735.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0039a0001c0001t0001g0048a0001c0001t0001g0050others(22): Show | 25 | 155 | 0.1613 | -8 | c.*92 others(19): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4423 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68038064 | GAGAAAGA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01258.hp1 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0004g0005others(3): Show | 6 | 155 | 0.0387 | -8 | c.*91 others(19): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4279 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68078984 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081a0001c0001t0003g0091 | 2 | 155 | 0.0129 | -8 | c.168 others(27): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68100739 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0030 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0030g0155 | 3 | 155 | 0.0194 | -8 | c.152 others(27): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68132098 | GTCTGATA others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0003 | 1 | 155 | 0.0065 | -8 | c.127 others(29): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68136291 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 155 | 0.0065 | -8 | c.127 others(29): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68141904 | TAAAGAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0073others(30): Show | 33 | 155 | 0.2129 | -8 | c.127 others(29): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68150526 | TACATCTG others(1): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0056 | 1 | 155 | 0.0065 | -8 | c.127 others(29): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68195003 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02818.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0140a0001c0001t0004g0005a0001c0001t0005g0137 | 3 | 155 | 0.0194 | -8 | c.110 others(25): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68195063 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02895.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0030 | a0001c0001t0004g0030a0001c0001t0005g0110a0001c0001t0030g0155 | 3 | 155 | 0.0194 | -8 | c.110 others(25): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | TogoVar |