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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EGFR_chr7_55014017_55216628 | 55044931 | TTGTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0028 | 1 | 250 | 0.0040 | -10 | c.88+ others(27): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55091847 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0012others(2): Show | a0001c0001t0022a0001c0004t0003a0001c0012t0004others(2): Show | a0001c0001t0022g0015a0001c0004t0003g0078a0001c0012t0004g0141others(2): Show | 5 | 250 | 0.0200 | -10 | c.89- others(27): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109919287 | GTCTCTCT others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01358.hp2 others(14): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(7): Show | a0001c0001t0002g0060a0001c0001t0004g0358a0001c0001t0011g0141others(14): Show | 17 | 388 | 0.0438 | -10 | c.127 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109927806 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0016 | a0016c0034 | a0016c0034t0020 | a0016c0034t0020g0375 | 1 | 388 | 0.0026 | -10 | c.128 others(29): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109951146 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(57): Show |
a0001a0003a0011others(1): Show | a0001c0001a0001c0016a0003c0003others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0004g0296a0001c0001t0004g0297a0001c0001t0004g0298others(56): Show | 60 | 388 | 0.1546 | -10 | c.940 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109982629 | TTTTTCTT others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0028a0001c0001t0029 | a0001c0001t0022g0241a0001c0001t0022g0244a0001c0001t0028g0242others(1): Show | 4 | 388 | 0.0103 | -10 | c.237 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109992170 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0005a0001c0001t0007g0123a0001c0001t0007g0124others(1): Show | 5 | 388 | 0.0129 | -10 | c.273 others(29): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109993034 | CATGTATA others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA18942.hp2 NA18957.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0027a0001c0033others(1): Show | a0001c0001t0004a0001c0001t0013a0001c0027t0004others(2): Show | a0001c0001t0004g0338a0001c0001t0004g0340a0001c0001t0004g0343others(7): Show | 10 | 388 | 0.0258 | -10 | c.273 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109993684 | TGCAGGGC others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0013a0021 | a0003c0003a0013c0015a0021c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002a0003c0003t0005g0003a0003c0003t0005g0014others(43): Show | 47 | 388 | 0.1211 | -10 | c.285 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 110004211 | TACATACA others(3): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG01884.hp2 others(26): Show |
a0001a0005a0011others(2): Show | a0001c0001a0001c0019a0005c0005others(3): Show | a0001c0001t0007a0001c0001t0014a0001c0001t0018others(12): Show | a0001c0001t0007g0317a0001c0001t0014g0239a0001c0001t0018g0234others(24): Show | 29 | 388 | 0.0747 | -10 | c.317 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 110005036 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 388 | 0.0026 | -10 | c.329 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGLN1_chr1_231358756_231427287 | 231359050 | TAAATTAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0306 | 1 | 338 | 0.0030 | -10 | c.*73 others(21): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4705 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231359054 | TTATATAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01928.hp2 NA18953.hp1 NA19001.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0023a0002c0002t0002 | a0001c0001t0002g0272a0001c0001t0023g0290a0002c0002t0002g0098 | 3 | 338 | 0.0089 | -10 | c.*73 others(21): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4701 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231360320 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0143 | 1 | 338 | 0.0030 | -10 | c.*60 others(21): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 3435 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231373694 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0005 | a0001c0001t0002g0142a0001c0001t0002g0153a0002c0002t0005g0118 | 3 | 338 | 0.0089 | -10 | c.101 others(27): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231383057 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02735.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308a0001c0001t0001g0309 | 2 | 338 | 0.0059 | -10 | c.892 others(27): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231391086 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0113 | 1 | 338 | 0.0030 | -10 | c.892 others(29): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231391088 | TTTTTTGT others(3): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0323 | 1 | 338 | 0.0030 | -10 | c.892 others(29): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231412011 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0158 | 1 | 338 | 0.0030 | -10 | c.891 others(27): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231426406 | ATCTAAAC others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0134a0001c0001t0002g0136a0001c0001t0002g0146others(17): Show | 21 | 338 | 0.0621 | -10 | c.-45 others(21): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4120 | chr1 | TogoVar | ||||||
EGLN3_chr14_33919227_33956074 | 33935612 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG02071.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0007a0003c0003t0003 | a0001c0001t0003g0012a0001c0001t0003g0080a0001c0001t0003g0093others(3): Show | 9 | 424 | 0.0212 | -10 | c.358 others(27): Show |
EGLN3 | ENSG00000129521.15 | transcript | ENST00000250457.9 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62729615 | TAAATAAA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG02155.hp1 HG03704.hp2 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0127a0001c0001t0001g0156a0001c0001t0001g0157others(3): Show | 6 | 198 | 0.0303 | -10 | c.105 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62773850 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 198 | 0.0051 | -10 | c.312 others(27): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62813261 | GGTAGGCC others(3): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG03704.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0091a0001c0007t0002g0097 | 2 | 198 | 0.0101 | -10 | c.313 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62820737 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18747.hp1 NA18952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0058a0001c0001t0001g0059others(2): Show | 5 | 198 | 0.0253 | -10 | c.313 others(27): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62830151 | TAGACACA others(3): Show |
T | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 198 | 0.0051 | -10 | c.495 others(25): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62830153 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01074.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(22): Show | 25 | 198 | 0.1263 | -10 | c.495 others(25): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63026294 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02735.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0006t0001a0001c0008t0001 | a0001c0001t0001g0044a0001c0001t0001g0126a0001c0006t0001g0160others(1): Show | 4 | 198 | 0.0202 | -10 | c.310 others(31): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63043920 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 198 | 0.0051 | -10 | c.327 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47721162 | GGGGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01256.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0003a0001c0004t0003a0001c0010t0005others(4): Show | a0001c0002t0003g0018a0001c0002t0003g0028a0001c0004t0003g0180others(11): Show | 14 | 398 | 0.0352 | -10 | c.502 others(27): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47722009 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01255.hp1 HG01256.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0010t0005others(2): Show | a0001c0001t0001g0017a0001c0002t0002g0023a0001c0010t0005g0010others(3): Show | 6 | 398 | 0.0151 | -10 | c.502 others(27): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47724981 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01168.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0314a0001c0001t0001g0315a0001c0001t0001g0329others(19): Show | 23 | 398 | 0.0578 | -10 | c.503 others(25): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47739274 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01516.hp2 HG01891.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0003a0001c0004t0003others(5): Show | a0001c0001t0001g0026a0001c0002t0003g0002a0001c0002t0003g0018others(22): Show | 26 | 398 | 0.0653 | -10 | c.108 others(29): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47743417 | GGTGTGTG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0003others(6): Show | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0170others(17): Show | 21 | 398 | 0.0528 | -10 | c.*19 others(21): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 284 | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47747408 | CAGGCAGG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0353a0001c0002t0003g0354a0001c0002t0004g0054others(5): Show | 8 | 398 | 0.0201 | -10 | c.*59 others(21): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4275 | chr19 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31243442 | TTCTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0233 | 1 | 378 | 0.0027 | -10 | c.228 others(25): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31245528 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0031a0001c0001t0081 | a0001c0001t0025g0289a0001c0001t0025g0310a0001c0001t0025g0312others(2): Show | 5 | 378 | 0.0132 | -10 | c.404 others(27): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31245545 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02451.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0002g0121a0001c0001t0004g0302a0001c0001t0004g0304others(14): Show | 17 | 378 | 0.0450 | -10 | c.404 others(27): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31245547 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(132): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(103): Show | 135 | 378 | 0.3571 | -10 | c.404 others(27): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31245549 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0039a0001c0001t0001g0058a0001c0001t0001g0072others(15): Show | 19 | 378 | 0.0503 | -10 | c.404 others(27): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31245551 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0066a0001c0001t0067 | a0001c0001t0012g0026a0001c0001t0012g0234a0001c0001t0012g0235others(4): Show | 7 | 378 | 0.0185 | -10 | c.404 others(27): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31253246 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02922.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0069a0001c0001t0087 | a0001c0001t0026g0264a0001c0001t0069g0232a0001c0001t0087g0240 | 3 | 378 | 0.0079 | -10 | c.502 others(27): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31273953 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00621.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(78): Show | 94 | 378 | 0.2487 | -10 | c.*72 others(21): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 4503 | chr2 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41903453 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01071.hp1 others(35): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(6): Show | a0001c0002t0002g0187a0001c0002t0002g0191a0001c0002t0004g0016others(32): Show | 38 | 360 | 0.1056 | -10 | c.109 others(29): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41907864 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01071.hp1 others(19): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0005a0001c0002t0011a0001c0002t0022others(2): Show | a0001c0002t0005g0042a0001c0002t0005g0068a0001c0002t0005g0097others(17): Show | 22 | 360 | 0.0611 | -10 | c.108 others(29): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41915085 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | NA18954.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224a0001c0001t0001g0227 | 2 | 360 | 0.0056 | -10 | c.924 others(27): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41949016 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0242 | 1 | 360 | 0.0028 | -10 | c.413 others(27): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
EHF_chr11_34616093_34668288 | 34646027 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01496.hp1 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0017a0001c0001t0031others(6): Show | a0001c0001t0001g0265a0001c0001t0017g0017a0001c0001t0017g0154others(8): Show | 12 | 410 | 0.0293 | -10 | c.98- others(23): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EHF_chr11_34616093_34668288 | 34668034 | CTGTGTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0210a0001c0001t0007g0334 | 2 | 410 | 0.0049 | -10 | c.*91 others(21): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 4747 | chr11 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185251608 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 |
a0002a0013 | a0002c0002a0013c0015 | a0002c0002t0002a0013c0015t0009 | a0002c0002t0002g0014a0013c0015t0009g0013 | 2 | 348 | 0.0058 | -10 | c.74+ others(25): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 1/6 | chr3 | TogoVar |