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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPPK1_chr8_143852324_143883467 | 143855464 | ATATCTAT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02630.hp2 others(1): Show |
a0061a0062a0069others(1): Show | a0061c0157a0062c0156a0069c0151others(1): Show | a0061c0157t0004a0062c0156t0004a0069c0151t0004others(1): Show | a0061c0157t0004g0237a0062c0156t0004g0241a0069c0151t0004g0052others(1): Show | 4 | 424 | 0.0094 | -16 | c.*25 others(27): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1859 | chr8 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220020824 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(51): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0184a0001c0001t0002g0010a0001c0001t0002g0348others(47): Show | 54 | 358 | 0.1508 | -16 | c.111 others(33): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 9/31 | chr1 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220044681 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02071.hp2 HG02132.hp1 others(39): Show |
a0001a0009a0010 | a0001c0001a0009c0027a0010c0023 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0293a0001c0001t0002g0280others(39): Show | 42 | 358 | 0.1173 | -16 | c.46+ others(31): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 1/31 | chr1 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16350581 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0120 | 1 | 276 | 0.0036 | -16 | c.*51 others(27): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4665 | chr19 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16362511 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 276 | 0.0036 | -16 | c.238 others(33): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51357387 | AAAAAATA others(9): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
a0002a0004a0006 | a0002c0001a0004c0015a0006c0010 | a0002c0001t0011a0004c0015t0011a0006c0010t0026 | a0002c0001t0011g0130a0002c0001t0011g0131a0002c0001t0011g0132others(2): Show | 5 | 152 | 0.0329 | -16 | c.254 others(33): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51432298 | TTATGTAT others(9): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03453.hp2 HG06807.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0004a0002c0001t0022 | a0002c0001t0004g0038a0002c0001t0004g0039a0002c0001t0004g0040others(1): Show | 4 | 152 | 0.0263 | -16 | c.104 others(35): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51489299 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
a0002a0004a0006others(1): Show | a0002c0001a0004c0015a0006c0010others(1): Show | a0002c0001t0007a0002c0001t0011a0004c0015t0011others(2): Show | a0002c0001t0007g0133a0002c0001t0007g0134a0002c0001t0007g0135others(6): Show | 9 | 152 | 0.0592 | -16 | c.34- others(31): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51493528 | TTAAATAA others(9): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0059 | 1 | 152 | 0.0066 | -16 | c.34- others(33): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55074408 | GGCCAGTG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 340 | 0.0029 | -16 | c.-15 others(27): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1460 | chr19 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 711106 | CGGGCTGC others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0299 | 1 | 406 | 0.0025 | -16 | c.165 others(31): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 4/20 | chr11 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 711237 | TTTGTGTG others(9): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 406 | 0.0025 | -16 | c.165 others(31): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 4/20 | chr11 | TogoVar | ||||||
EPS8_chr12_15615134_15794388 | 15711033 | CTTATTTA others(9): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 102 | 0.0098 | -16 | c.-21 others(35): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42942658 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(117): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0026a0001c0001t0002g0191a0001c0001t0002g0219others(116): Show | 120 | 352 | 0.3409 | -16 | c.563 others(35): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
EPX_chr17_58187726_58210174 | 58203931 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0014 | a0014c0037 | a0014c0037t0001 | a0014c0037t0001g0129 | 1 | 404 | 0.0025 | -16 | c.194 others(33): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EQTN_chr9_27279654_27302150 | 27285133 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0095 | 1 | 446 | 0.0022 | -16 | c.636 others(31): Show |
EQTN | ENSG00000120160.11 | transcript | ENST00000380032.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96783818 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01168.hp1 others(13): Show |
a0007 | a0007c0008a0007c0024 | a0007c0008t0001a0007c0008t0002a0007c0008t0003others(1): Show | a0007c0008t0001g0053a0007c0008t0002g0048a0007c0008t0003g0008others(9): Show | 16 | 416 | 0.0385 | -16 | c.210 others(32): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 14/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96783840 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(104): Show |
a0002a0005a0008others(3): Show | a0002c0002a0002c0020a0005c0005others(6): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0008others(17): Show | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0016others(82): Show | 107 | 416 | 0.2572 | -16 | c.210 others(31): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 14/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96808187 | CGTGTGTG others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0006others(7): Show | a0001c0001t0002g0107a0002c0002t0001g0005a0002c0002t0001g0035others(17): Show | 21 | 416 | 0.0505 | -16 | c.-36 others(25): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96874136 | GAGAAAGA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp2 NA19030.hp1 |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0015 | a0001c0004t0006g0128a0001c0004t0006g0130a0001c0004t0015g0129 | 3 | 398 | 0.0075 | -16 | c.-25 others(27): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 2363 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96885721 | AGGAGTTG others(9): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01433.hp1 others(1): Show |
a0001a0014 | a0001c0001a0014c0023 | a0001c0001t0001a0014c0023t0001 | a0001c0001t0001g0030a0001c0001t0001g0219a0014c0023t0001g0217 | 4 | 398 | 0.0101 | -16 | c.715 others(31): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96891504 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(174): Show |
a0000a0001a0002others(7): Show | a0000c0010a0001c0001a0001c0004others(12): Show | a0000c0010t0014a0001c0001t0001a0001c0001t0008others(20): Show | a0000c0010t0014g0026a0001c0001t0001g0005a0001c0001t0001g0006others(150): Show | 177 | 398 | 0.4447 | -16 | c.971 others(31): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBB2_chr17_39695064_39733658 | 39695704 | TACACACA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02486.hp1 HG02602.hp1 others(5): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0002a0001c0019t0002 | a0001c0001t0002g0027a0001c0001t0002g0090a0001c0001t0002g0092others(4): Show | 8 | 318 | 0.0252 | -16 | c.-45 others(27): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 4359 | chr17 | TogoVar | ||||||
ERBB2_chr17_39695064_39733658 | 39697341 | GTTTTTTT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02922.hp1 |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0037 | 2 | 318 | 0.0063 | -16 | c.-28 others(27): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 2722 | chr17 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211477297 | ATCTCTCT others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(3): Show | a0001c0001t0004g0003a0001c0001t0004g0008a0001c0001t0004g0011others(6): Show | 9 | 56 | 0.1607 | -16 | c.248 others(37): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622988 | AAAATATA others(9): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 56 | 0.0179 | -16 | c.220 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211716362 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA18522.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0027 | a0001c0001t0011g0042a0001c0001t0027g0055 | 2 | 56 | 0.0357 | -16 | c.884 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211772822 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01496.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001a0001c0002t0013 | a0001c0001t0012g0001a0001c0002t0001g0030a0001c0002t0013g0027 | 3 | 56 | 0.0536 | -16 | c.556 others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211773598 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0015a0001c0001t0011g0041 | 2 | 56 | 0.0357 | -16 | c.556 others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212003212 | AGAAGGAA others(9): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0019 | 1 | 56 | 0.0179 | -16 | c.235 others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212099144 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01192.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0002g0024others(20): Show | 23 | 56 | 0.4107 | -16 | c.234 others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212191951 | ATATATGT others(9): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0016a0001c0001t0002g0025a0001c0001t0003g0017others(5): Show | 8 | 56 | 0.1429 | -16 | c.83- others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212191991 | TATATATG others(9): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001 | a0001c0001t0009g0023a0001c0002t0001g0020 | 2 | 56 | 0.0357 | -16 | c.83- others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212271162 | AAAATCTA others(9): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01192.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0032a0001c0001t0002g0047a0001c0001t0003g0040others(8): Show | 11 | 56 | 0.1964 | -16 | c.83- others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212310609 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 56 | 0.0179 | -16 | c.83- others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212373827 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 56 | 0.0179 | -16 | c.82+ others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212446578 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 56 | 0.0179 | -16 | c.82+ others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212510205 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG03486.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017 | a0001c0001t0012g0001a0001c0001t0017g0029 | 2 | 56 | 0.0357 | -16 | c.82+ others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65964908 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 306 | 0.0033 | -16 | c.-57 others(35): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 65965382 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02738.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0003 | a0001c0002t0002g0255a0001c0002t0002g0260a0002c0003t0003g0198 | 3 | 306 | 0.0098 | -16 | c.-57 others(35): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66018567 | TTATATTA others(9): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0006 | a0005c0006t0016 | a0005c0006t0016g0299 | 1 | 306 | 0.0033 | -16 | c.534 others(33): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66065591 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01167.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0001t0001g0073others(11): Show | 14 | 306 | 0.0458 | -16 | c.363 others(35): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 994066 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0056a0001c0001t0068 | a0001c0001t0043g0084a0001c0001t0056g0085a0001c0001t0068g0083 | 3 | 162 | 0.0185 | -16 | c.-15 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1004834 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01517.hp1 HG02055.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0008a0001c0001t0069a0001c0003t0046others(1): Show | a0001c0001t0008g0086a0001c0001t0069g0092a0001c0003t0046g0088others(3): Show | 6 | 162 | 0.0370 | -16 | c.-15 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1007460 | TTCTCTCT others(9): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp2 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0074a0002c0002t0037 | a0001c0001t0005g0041a0001c0001t0074g0039a0002c0002t0037g0042 | 3 | 162 | 0.0185 | -16 | c.-15 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1099835 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 |
a0002 | a0002c0002 | a0002c0002t0038a0002c0002t0048 | a0002c0002t0038g0082a0002c0002t0048g0070 | 2 | 162 | 0.0124 | -16 | c.108 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1119554 | TGTGTGTG others(9): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00639.hp1 others(29): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0019others(29): Show | a0001c0001t0004g0075a0001c0001t0009g0007a0001c0001t0019g0120others(29): Show | 32 | 162 | 0.1975 | -16 | c.156 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121661 | CTCTATCT others(9): Show |
C | intron_variant | MODIFIER | HG01993.hp1 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0083a0002c0002t0037 | a0001c0001t0083g0130a0002c0002t0037g0042 | 2 | 162 | 0.0124 | -16 | c.156 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121747 | CTCTATCT others(9): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0136 | a0002c0002t0136g0100 | 1 | 162 | 0.0062 | -16 | c.156 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121931 | GTCTCTAT others(9): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0109 | 1 | 162 | 0.0062 | -16 | c.156 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |