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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15555290 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG02300.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0002a0006c0012t0001others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0084a0001c0001t0001g0086others(8): Show | 11 | 236 | 0.0466 | -8 | c.257 others(25): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15555292 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02055.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(13): Show | a0001c0001t0001g0044a0001c0001t0001g0082a0001c0001t0001g0179others(20): Show | 23 | 236 | 0.0975 | -8 | c.257 others(25): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140607458 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02071.hp1 HG02717.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0037a0001c0001t0042a0001c0002t0002others(8): Show | a0001c0001t0037g0333a0001c0001t0042g0053a0001c0002t0002g0050others(10): Show | 13 | 338 | 0.0385 | -8 | c.23- others(25): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140610028 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02004.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0021a0001c0001t0042a0001c0001t0080others(10): Show | a0001c0001t0021g0181a0001c0001t0042g0157a0001c0001t0080g0225others(10): Show | 13 | 338 | 0.0385 | -8 | c.23- others(25): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 35952110 | GTCTTTCT others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(61): Show | 64 | 258 | 0.2481 | -8 | c.191 others(25): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 36020606 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0084a0001c0001t0085 | a0001c0001t0016g0161a0001c0001t0016g0162a0001c0001t0016g0163others(2): Show | 5 | 258 | 0.0194 | -8 | c.140 others(27): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO4_chr1_35803016_35862890 | 35818625 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01168.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0141others(10): Show | 13 | 270 | 0.0482 | -8 | c.185 others(25): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO4_chr1_35803016_35862890 | 35858442 | ATATTTAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG02155.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0036a0001c0002t0001 | a0001c0001t0002g0087a0001c0001t0002g0116a0001c0001t0036g0070others(2): Show | 5 | 270 | 0.0185 | -8 | c.*48 others(19): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 553 | chr1 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43863345 | TTTTGTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0032 | a0001c0001t0007g0326a0001c0001t0007g0327a0001c0001t0007g0328others(3): Show | 6 | 342 | 0.0175 | -8 | c.-21 others(19): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 1877 | chr21 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43885826 | TGCAGGTG others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(91): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0113a0001c0001t0001g0197a0001c0001t0001g0200others(91): Show | 94 | 342 | 0.2749 | -8 | c.-11 others(29): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43905155 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01099.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0054a0001c0001t0001g0210a0001c0001t0001g0223others(39): Show | 42 | 342 | 0.1228 | -8 | c.-49 others(25): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43931922 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0049a0001c0002t0018 | a0001c0001t0015g0115a0001c0001t0015g0116a0001c0001t0015g0117others(2): Show | 5 | 342 | 0.0146 | -8 | c.-48 others(27): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43938316 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02027.hp2 HG02071.hp1 others(26): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0296a0001c0001t0002g0307a0001c0001t0003g0002others(25): Show | 29 | 342 | 0.0848 | -8 | c.-48 others(27): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT4_chr6_161124967_161279061 | 161170469 | GCGCGCAC others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0003g0039a0001c0001t0010g0251a0001c0001t0011g0020others(8): Show | 11 | 264 | 0.0417 | -8 | c.179 others(25): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161170471 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02257.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0044 | a0001c0001t0001g0040a0001c0001t0001g0054a0001c0001t0001g0055others(2): Show | 5 | 264 | 0.0189 | -8 | c.179 others(25): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161187504 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0033others(56): Show | 59 | 264 | 0.2235 | -8 | c.179 others(27): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161219872 | TAGGCAGG others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01433.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(9): Show | a0001c0001t0001g0189a0001c0001t0007g0182a0001c0001t0007g0188others(15): Show | 18 | 264 | 0.0682 | -8 | c.178 others(27): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161233109 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02055.hp1 HG02055.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(20): Show | a0001c0001t0002g0247a0001c0001t0008g0004a0001c0001t0010g0195others(30): Show | 33 | 264 | 0.1250 | -8 | c.-89 others(23): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161240221 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01099.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0001g0112a0001c0001t0001g0144a0001c0001t0001g0189others(28): Show | 31 | 264 | 0.1174 | -8 | c.-89 others(25): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6707320 | AATATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0032a0001c0001t0001g0046others(23): Show | 29 | 404 | 0.0718 | -8 | c.-13 others(19): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 1321 | chr8 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16886695 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0148a0001c0001t0001g0150a0001c0001t0001g0151others(2): Show | 5 | 458 | 0.0109 | -8 | c.-47 others(19): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4713 | chr7 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1030142 | CATGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 others(5): Show |
a0001a0024 | a0001c0011a0001c0013a0001c0047others(2): Show | a0001c0011t0006a0001c0013t0008a0001c0013t0010others(3): Show | a0001c0011t0006g0010a0001c0013t0008g0025a0001c0013t0010g0011others(4): Show | 8 | 210 | 0.0381 | -8 | c.464 others(25): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1030143 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01257.hp1 others(11): Show |
a0001a0014a0022 | a0001c0007a0001c0012a0001c0024others(8): Show | a0001c0007t0005a0001c0012t0006a0001c0012t0017others(9): Show | a0001c0007t0005g0180a0001c0012t0006g0056a0001c0012t0006g0163others(11): Show | 14 | 210 | 0.0667 | -8 | c.464 others(25): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGRN_chr1_1015120_1061116 | 1040612 | GACGTGGG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02809.hp1 others(1): Show |
a0001a0022 | a0001c0012a0001c0051a0001c0052others(1): Show | a0001c0012t0017a0001c0051t0002a0001c0052t0006others(1): Show | a0001c0012t0017g0145a0001c0051t0002g0144a0001c0052t0006g0021others(1): Show | 4 | 210 | 0.0191 | -8 | c.512 others(21): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGTPBP1_chr9_85541539_85746954 | 85599110 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02615.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0038a0001c0001t0001g0135a0001c0001t0002g0168others(5): Show | 8 | 302 | 0.0265 | -8 | c.233 others(27): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85630461 | CGATTGAT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(58): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0042others(58): Show | 61 | 302 | 0.2020 | -8 | c.201 others(27): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85639346 | CACACCCA others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG03669.hp2 HG03704.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0211a0001c0001t0002g0212a0001c0001t0002g0213others(2): Show | 5 | 302 | 0.0166 | -8 | c.130 others(27): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 13/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85668967 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00639.hp2 others(37): Show |
a0001a0003a0008 | a0001c0001a0003c0014a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0020others(37): Show | 40 | 302 | 0.1325 | -8 | c.662 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 8/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85728030 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01192.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0092a0001c0001t0001g0138others(5): Show | 8 | 302 | 0.0265 | -8 | c.-34 others(27): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
AGTRAP_chr1_11731136_11755769 | 11742441 | GTTCCTTC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0014 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0009others(23): Show | 83 | 420 | 0.1976 | -8 | c.28- others(23): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGT_chr1_230697523_230719122 | 230701148 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(71): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0014others(18): Show | 74 | 456 | 0.1623 | -8 | c.*19 others(19): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1374 | chr1 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35011915 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03017.hp1 HG03130.hp1 others(6): Show |
a0001a0002a0006 | a0001c0003a0002c0002a0006c0007 | a0001c0003t0001a0001c0003t0003a0002c0002t0001others(3): Show | a0001c0003t0001g0082a0001c0003t0003g0083a0002c0002t0001g0054others(6): Show | 9 | 384 | 0.0234 | -8 | c.118 others(27): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 11/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35023861 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(246): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0034others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0015a0001c0001t0001g0132a0001c0001t0001g0134others(237): Show | 249 | 384 | 0.6484 | -8 | c.963 others(25): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35028558 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01168.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(6): Show | a0001c0001t0001g0132a0001c0001t0001g0178a0001c0001t0001g0201others(15): Show | 19 | 384 | 0.0495 | -8 | c.770 others(25): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 109982435 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0017others(30): Show | 58 | 350 | 0.1657 | -8 | c.-26 others(19): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2329 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01069.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138a0001c0001t0001g0174a0001c0001t0001g0180others(4): Show | 7 | 292 | 0.0240 | -8 | c.363 others(27): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129403860 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(126): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(126): Show | 129 | 292 | 0.4418 | -8 | c.102 others(25): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHI1_chr6_135278532_135502740 | 135293398 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp1 others(13): Show |
a0001a0004a0008 | a0001c0001a0004c0007a0008c0019 | a0001c0001t0003a0001c0001t0012a0004c0007t0011others(1): Show | a0001c0001t0003g0012a0001c0001t0003g0037a0001c0001t0003g0039others(13): Show | 16 | 220 | 0.0727 | -8 | c.348 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135340654 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0170a0001c0001t0002g0171a0001c0001t0002g0172others(11): Show | 14 | 220 | 0.0636 | -8 | c.316 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135355902 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0041a0001c0001t0003g0018a0001c0001t0003g0032others(9): Show | 12 | 220 | 0.0546 | -8 | c.316 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135361645 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(22): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0124a0001c0001t0001g0127a0001c0001t0001g0129others(22): Show | 25 | 220 | 0.1136 | -8 | c.311 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135368739 | CCCACTCT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0214a0001c0001t0003g0215a0001c0001t0003g0216others(15): Show | 18 | 220 | 0.0818 | -8 | c.311 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135374104 | ATATATTT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02280.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0052a0001c0001t0001g0061a0001c0001t0003g0012others(2): Show | 5 | 220 | 0.0227 | -8 | c.311 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135374108 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0003a0001c0021t0010 | a0001c0001t0003g0049a0001c0001t0003g0050a0001c0001t0003g0118others(2): Show | 5 | 220 | 0.0227 | -8 | c.311 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135376881 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp2 others(35): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0005a0005c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0057others(35): Show | 38 | 220 | 0.1727 | -8 | c.310 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135377462 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0013 | a0001c0003t0002g0219a0001c0003t0004g0008a0001c0003t0004g0009others(2): Show | 5 | 220 | 0.0227 | -8 | c.310 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135382922 | AAAAAATA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01943.hp1 HG02040.hp2 others(2): Show |
a0001a0003a0011 | a0001c0001a0003c0005a0011c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0061a0001c0001t0002g0088a0001c0001t0003g0018others(2): Show | 5 | 220 | 0.0227 | -8 | c.310 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135422619 | TTATGTAT others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0003a0001c0016t0002 | a0001c0001t0003g0179a0001c0001t0003g0182a0001c0016t0002g0180 | 3 | 220 | 0.0136 | -8 | c.276 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 20/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135472018 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0041a0001c0001t0003g0018a0001c0001t0003g0032others(15): Show | 18 | 220 | 0.0818 | -8 | c.136 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344860 | GACTGTGC others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01074.hp1 |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0054 | a0003c0004t0004g0183a0003c0004t0004g0204a0003c0004t0054g0165 | 3 | 268 | 0.0112 | -8 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar |