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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLUL1_chr18_591988_655182 | 626924 | AAAGAAGG others(75): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(79): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(76): Show |
82 | 414 | 0.1981 | -82 | c.424 others(96): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2287694 | GAAGAAGA others(75): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG06807.hp1 |
a0001 | a0001c0006a0001c0021 | a0001c0006t0002a0001c0021t0002 | a0001c0006t0002g0026 a0001c0021t0002g0025 |
2 | 116 | 0.0172 | -82 | c.-14 others(103): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146711980 | CTATATAG others(75): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0035 a0001c0004t0003g0036 |
2 | 40 | 0.0500 | -82 | c.98- others(99): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 147775284 | AATATATA others(75): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(10): Show | a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0002t0001g0007 others(10): Show |
13 | 40 | 0.3250 | -82 | c.209 others(105): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148365867 | TGTGTATG others(75): Show |
T | intron_variant | MODIFIER | NA18522.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0007a0002c0016t0004 | a0001c0001t0007g0018 a0002c0016t0004g0024 |
2 | 40 | 0.0500 | -82 | c.347 others(103): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437778 | ACACTCAC others(75): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02895.hp1 others(1): Show |
a0005a0010a0011 | a0005c0107a0010c0109a0011c0037 | a0005c0107t0001a0010c0109t0004a0011c0037t0009 | a0005c0107t0001g0039 a0010c0109t0004g0196 a0011c0037t0009g0197 others(1): Show |
4 | 292 | 0.0137 | -82 | c.107 others(101): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134747690 | AACACATG others(75): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0247 | 1 | 272 | 0.0037 | -82 | c.149 others(101): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 11/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89570926 | GACGGGAG others(75): Show |
G | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 348 | 0.0029 | -82 | c.-49 others(93): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4831 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89571008 | CACGGGAG others(75): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp2 NA19088.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0045 a0001c0002t0004g0039 |
2 | 348 | 0.0058 | -82 | c.-48 others(93): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4749 | chr16 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240985541 | ACACACAC others(75): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG03927.hp2 |
a0005a0025a0053 | a0005c0005a0025c0060a0053c0088 | a0005c0005t0002a0025c0060t0002a0053c0088t0001 | a0005c0005t0002g0321 a0025c0060t0002g0335 a0053c0088t0001g0136 |
3 | 350 | 0.0086 | -82 | c.455 others(101): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3671496 | CATATATA others(75): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0020 | a0001c0020t0016 | a0001c0020t0016g0065 | 1 | 126 | 0.0079 | -82 | c.100 others(103): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3838670 | TAATATTA others(75): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01243.hp2 others(30): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0003a0001c0007others(28): Show | a0001c0002t0002a0001c0002t0028a0001c0002t0061others(30): Show | a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 others(30): Show |
33 | 126 | 0.2619 | -82 | c.819 others(101): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542592 | TTATATAT others(75): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01243.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023a0001c0001t0032others(1): Show | a0001c0001t0005g0229 a0001c0001t0005g0269 a0001c0001t0005g0270 others(29): Show |
32 | 390 | 0.0821 | -82 | c.230 others(99): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11816681 | GGGGGAGA others(75): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0022 others(1): Show |
4 | 26 | 0.1539 | -82 | c.38- others(99): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
CYP2W1_chr7_978181_994640 | 990162 | GAGTGGCG others(75): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG02109.hp1 others(12): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0008t0001others(1): Show | a0001c0001t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0032 others(5): Show |
15 | 408 | 0.0368 | -82 | c.*13 others(93): Show |
CYP2W1 | ENSG00000073067.14 | transcript | ENST00000308919.12 | protein_coding | 523 | chr7 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90008173 | CACCACCC others(75): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0116 |
2 | 412 | 0.0049 | -82 | c.319 others(97): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90008560 | TTCCCAAG others(75): Show |
T | intron_variant | MODIFIER | HG03209.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0080 a0001c0001t0008g0127 |
2 | 412 | 0.0049 | -82 | c.319 others(97): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DBR1_chr3_138155988_138179921 | 138178704 | TCGGGAGG others(75): Show |
T | upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0043 | 1 | 370 | 0.0027 | -82 | c.-39 others(93): Show |
DBR1 | ENSG00000138231.14 | transcript | ENST00000260803.9 | protein_coding | 3784 | chr3 | TogoVar | |||||||
DBX2_chr12_45009672_45056099 | 45038593 | ATCCCAAC others(75): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(180): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(141): Show |
183 | 416 | 0.4399 | -82 | c.404 others(99): Show |
DBX2 | ENSG00000185610.6 | transcript | ENST00000332700.6 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
DENND4C_chr9_19225693_19379281 | 19238468 | CTCTCCCC others(75): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG02056.hp1 others(2): Show |
a0001a0012 | a0001c0001a0001c0020a0012c0027 | a0001c0001t0002a0001c0020t0002a0012c0027t0002 | a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0290 others(2): Show |
5 | 292 | 0.0171 | -82 | c.-18 others(99): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | chr9 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14567304 | TTATATAT others(75): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03209.hp2 |
a0001 | a0001c0014a0001c0015 | a0001c0014t0001a0001c0015t0032 | a0001c0014t0001g0018 a0001c0015t0032g0019 |
2 | 148 | 0.0135 | -82 | c.177 others(101): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 20/25 | chr7 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2485741 | AGAAGGGA others(75): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 50 | 0.0200 | -82 | c.109 others(101): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DHX37_chr12_124941826_124994131 | 124948786 | AAAACATA others(75): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0008others(46): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0016others(63): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(247): Show |
257 | 370 | 0.6946 | -82 | c.329 others(99): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 25/26 | chr12 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13453420 | ATATGTGT others(75): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0011 | a0011c0025 | a0011c0025t0006 | a0011c0025t0006g0024 | 1 | 212 | 0.0047 | -82 | c.102 others(103): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 900301 | CGGTGGGC others(75): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | -82 | c.19- others(97): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1029542 | CGGTGTCC others(75): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG02071.hp1 HG02818.hp2 others(2): Show |
a0001a0002 | a0001c0012a0002c0001a0002c0004others(2): Show | a0001c0012t0012a0002c0001t0011a0002c0004t0026others(2): Show | a0001c0012t0012g0006 a0002c0001t0011g0001 a0002c0004t0026g0016 others(2): Show |
5 | 40 | 0.1250 | -82 | c.73+ others(101): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1033844 | CGTGTCAC others(75): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01361.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0013others(1): Show | a0001c0002t0010a0001c0002t0023a0001c0003t0014others(2): Show | a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0003t0014g0020 others(2): Show |
5 | 40 | 0.1250 | -82 | c.73+ others(101): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1461407 | AGGTTGGG others(75): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0009 | a0002c0009t0021 | a0002c0009t0021g0014 | 1 | 40 | 0.0250 | -82 | c.107 others(101): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1570673 | GGAGGGGT others(75): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | -82 | c.144 others(101): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 888620 | TTTAATAG others(75): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01515.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0004a0001c0006t0001a0001c0006t0002others(6): Show | a0001c0001t0004g0208 a0001c0006t0001g0097 a0001c0006t0001g0204 others(9): Show |
12 | 306 | 0.0392 | -82 | c.539 others(99): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78476230 | GCGTGGAA others(75): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(16): Show |
a0001a0002a0003others(10): Show | a0001c0055a0001c0056a0001c0110others(14): Show | a0001c0055t0001a0001c0056t0001a0001c0110t0001others(14): Show | a0001c0055t0001g0240 a0001c0056t0001g0113 a0001c0110t0001g0069 others(16): Show |
19 | 252 | 0.0754 | -82 | c.815 others(99): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 52/80 | chr17 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11711962 | ATATATAT others(75): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01168.hp2 others(33): Show |
a0001a0002a0004others(15): Show | a0001c0002a0001c0003a0001c0050others(26): Show | a0001c0002t0001a0001c0003t0001a0001c0050t0001others(26): Show | a0001c0002t0001g0023 a0001c0002t0001g0145 a0001c0003t0001g0087 others(33): Show |
36 | 178 | 0.2023 | -82 | c.555 others(101): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403912 | ATATACAT others(75): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp2 others(28): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0016a0001c0056others(15): Show | a0001c0002t0001a0001c0016t0006a0001c0056t0005others(15): Show | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(28): Show |
31 | 256 | 0.1211 | -82 | c.323 others(100): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154063157 | TCCCCTTT others(75): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp2 |
a0001 | a0001c0011a0001c0016 | a0001c0011t0003a0001c0016t0013 | a0001c0011t0003g0012 a0001c0016t0013g0014 |
2 | 38 | 0.0526 | -82 | c.243 others(101): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPYD_chr1_97072743_97926034 | 97130754 | TTCCTTCC others(75): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG02717.hp2 HG03098.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0003g0028 others(6): Show |
9 | 52 | 0.1731 | -82 | c.262 others(103): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | |||||||
DRC7_chr16_57689806_57736805 | 57719200 | CTTCTCTG others(75): Show |
C | intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0240 | 1 | 388 | 0.0026 | -82 | c.120 others(99): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196317394 | GTGTGTGT others(75): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 330 | 0.0030 | -82 | c.113 others(97): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317398 | GTGTAAAG others(75): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0142 |
3 | 330 | 0.0091 | -82 | c.113 others(97): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
EEF1D_chr8_143574728_143602415 | 143601639 | ATTTCCAA others(75): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 389 | 0.0026 | -82 | c.-43 others(93): Show |
EEF1D | ENSG00000104529.19 | transcript | ENST00000618139.4 | protein_coding | 4225 | chr8 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43784558 | CACATATA others(75): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 290 | 0.0035 | -82 | c.-7- others(97): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | |||||||
EGFL7_chr9_136657916_136677678 | 136675403 | GGGCCAGC others(75): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0006g0018 others(2): Show |
7 | 432 | 0.0162 | -82 | c.*31 others(93): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2726 | chr9 | TogoVar | |||||||
EGFL7_chr9_136657916_136677678 | 136675429 | CAGCAGGA others(75): Show |
C | downstream_gene_variant | MODIFIER | HG03453.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0094 |
2 | 432 | 0.0046 | -82 | c.*31 others(93): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2752 | chr9 | TogoVar | |||||||
EGFL7_chr9_136657916_136677678 | 136675444 | AGGCCAGC others(75): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 NA18747.hp2 NA18939.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0052 a0002c0002t0001g0037 others(1): Show |
9 | 432 | 0.0208 | -82 | c.*31 others(93): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2767 | chr9 | TogoVar | |||||||
ELFN2_chr22_37362960_37432479 | 37384643 | GACCCCTG others(75): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0061 a0001c0003t0001g0125 |
2 | 334 | 0.0060 | -82 | c.-46 others(101): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36939285 | AGTACTCA others(75): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0004g0063 others(5): Show |
8 | 92 | 0.0870 | -82 | c.143 others(103): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306208 | AAGGGGAG others(75): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 320 | 0.0031 | -82 | c.-8- others(99): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667411 | GTGATGGT others(75): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp2 HG02886.hp1 |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0014 | a0002c0002t0009g0133 a0002c0002t0014g0096 |
2 | 418 | 0.0048 | -82 | c.*68 others(93): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2906 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667417 | GTGATGGT others(75): Show |
G | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0186 | 1 | 418 | 0.0024 | -82 | c.*68 others(93): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2900 | chr18 | TogoVar | |||||||
ENTPD6_chr20_25190712_25233075 | 25217790 | CACCCAGA others(75): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG02129.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0002g0152 |
3 | 380 | 0.0079 | -82 | c.878 others(97): Show |
ENTPD6 | ENSG00000197586.13 | transcript | ENST00000376652.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ENTREP1_chr9_69320215_69397456 | 69329893 | TTAGATTC others(75): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp1 HG01167.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(55): Show |
66 | 342 | 0.1930 | -82 | c.414 others(99): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |