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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGTPBP1_chr9_85541539_85746954 | 85630461 | C | CGATT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0142a0001c0001t0002g0158others(12): Show | 15 | 302 | 0.0497 | 4 | c.201 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85639367 | G | GCACA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(45): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0042others(45): Show | 48 | 302 | 0.1589 | 4 | c.130 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 13/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85639367 | G | GCGCA | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0018a0001c0001t0001g0140a0001c0001t0002g0266others(6): Show | 9 | 302 | 0.0298 | 4 | c.130 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 13/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85691536 | G | GGGGT | intron_variant | MODIFIER | HG02165.hp2 HG06807.hp2 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023a0001c0001t0001g0076a0001c0001t0001g0078others(1): Show | 4 | 302 | 0.0133 | 4 | c.157 others(21): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85691536 | G | GGTGT | intron_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01169.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0094a0001c0001t0001g0095others(14): Show | 17 | 302 | 0.0563 | 4 | c.157 others(21): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85697401 | T | TGATA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(227): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(227): Show | 230 | 302 | 0.7616 | 4 | c.33- others(19): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85728025 | T | TTATA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158a0001c0001t0002g0159a0001c0001t0002g0162others(3): Show | 6 | 302 | 0.0199 | 4 | c.-34 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85728030 | T | TACAC | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224a0001c0001t0002g0255a0001c0001t0002g0281 | 3 | 302 | 0.0099 | 4 | c.-34 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85728030 | T | TATAC | intron_variant | MODIFIER | HG00544.hp2 HG02257.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(2): Show | 5 | 302 | 0.0166 | 4 | c.-34 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148705439 | C | CTCTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00642.hp1 others(167): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009a0001c0001t0001g0031a0001c0001t0001g0042others(118): Show | 170 | 350 | 0.4857 | 4 | c.-13 others(23): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AGTR2_chrX_116165744_116179974 | 116167537 | G | GGTGT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(59): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0002g0002others(8): Show | 62 | 332 | 0.1868 | 4 | c.-33 others(15): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3206 | chrX | TogoVar | ||||||
AGTR2_chrX_116165744_116179974 | 116170764 | G | GGTAT | 5_prime_UTR_variant | MODIFIER | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0010 | 1 | 332 | 0.0030 | 4 | c.-14 others(13): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 1/3 | 1516 | chrX | TogoVar | |||||
AGT_chr1_230697523_230719122 | 230701148 | T | TTGTG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01106.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(9): Show | 29 | 456 | 0.0636 | 4 | c.*19 others(15): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1374 | chr1 | TogoVar | ||||||
AGT_chr1_230697523_230719122 | 230718722 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00639.hp1 others(78): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(28): Show | 81 | 456 | 0.1776 | 4 | c.-46 others(15): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 4601 | chr1 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35000245 | C | CCCCA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(297): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0034others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0015a0001c0001t0001g0123a0001c0001t0001g0124others(286): Show | 300 | 384 | 0.7813 | 4 | c.143 others(23): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 13/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35014452 | C | CAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG00738.hp1 others(63): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0003a0003c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0123a0001c0001t0001g0124others(63): Show | 66 | 384 | 0.1719 | 4 | c.964 others(19): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35023861 | A | ATATT | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01169.hp1 others(3): Show |
a0002a0010 | a0002c0002a0010c0010a0010c0024 | a0002c0002t0001a0010c0010t0003a0010c0024t0003 | a0002c0002t0001g0244a0010c0010t0003g0007a0010c0010t0003g0151others(2): Show | 6 | 384 | 0.0156 | 4 | c.963 others(21): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35028558 | T | TGAGA | intron_variant | MODIFIER | HG00408.hp2 HG01346.hp1 HG02135.hp1 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(10): Show | a0001c0001t0001g0220a0001c0001t0004g0359a0001c0003t0001g0082others(13): Show | 16 | 384 | 0.0417 | 4 | c.770 others(21): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0014a0001c0001t0017others(1): Show | a0001c0001t0004g0001a0001c0001t0004g0004a0001c0001t0004g0008others(8): Show | 39 | 444 | 0.0878 | 4 | c.*17 others(15): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTTT | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02145.hp2 others(4): Show |
a0005a0011 | a0005c0005a0011c0014 | a0005c0005t0011a0005c0005t0016a0011c0014t0011 | a0005c0005t0011g0023a0005c0005t0011g0076a0005c0005t0016g0023others(2): Show | 7 | 444 | 0.0158 | 4 | c.*48 others(15): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246834949 | A | ATTTT | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG02055.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0008 | a0001c0001t0002a0001c0004t0002a0001c0004t0012others(1): Show | a0001c0001t0002g0034a0001c0004t0002g0021a0001c0004t0002g0146others(8): Show | 11 | 376 | 0.0293 | 4 | c.*58 others(15): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246848862 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(281): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0007others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0041others(280): Show | 284 | 376 | 0.7553 | 4 | c.639 others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 33/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246857964 | C | CTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0010others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0041others(343): Show | 347 | 376 | 0.9229 | 4 | c.413 others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 29/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246878396 | C | CAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(33): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0026others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0001t0001g0151a0001c0001t0001g0247a0001c0001t0001g0260others(33): Show | 36 | 376 | 0.0957 | 4 | c.266 others(23): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246898621 | A | AACAC | intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 HG02148.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0020 | a0001c0001t0001a0002c0002t0001a0003c0020t0022 | a0001c0001t0001g0172a0001c0001t0001g0173a0002c0002t0001g0049others(7): Show | 10 | 376 | 0.0266 | 4 | c.149 others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 11/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246909079 | A | ATATC | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(151): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0042a0001c0001t0001g0134a0001c0001t0001g0135others(150): Show | 154 | 376 | 0.4096 | 4 | c.557 others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246920142 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01258.hp1 HG02004.hp1 others(13): Show |
a0001a0003a0025 | a0001c0001a0001c0019a0003c0003others(1): Show | a0001c0001t0001a0001c0019t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0176a0001c0001t0001g0194a0001c0001t0001g0260others(13): Show | 16 | 376 | 0.0426 | 4 | c.-7- others(19): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246933121 | T | TTTTA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01168.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001a0002c0002t0003 | a0001c0001t0004g0363a0001c0001t0004g0364a0001c0001t0004g0365others(20): Show | 23 | 376 | 0.0612 | 4 | c.-15 others(15): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1174 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 109994261 | G | GTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(52): Show | 105 | 350 | 0.3000 | 4 | c.120 others(21): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129226922 | A | AACTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(267): Show | 270 | 292 | 0.9247 | 4 | c.363 others(21): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129240229 | A | AAGAG | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01891.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0018others(1): Show | a0001c0001t0007g0285a0001c0001t0007g0286a0001c0001t0007g0287others(6): Show | 9 | 292 | 0.0308 | 4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129256549 | A | ACACC | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01070.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0004a0001c0001t0003g0146a0001c0001t0008g0150others(28): Show | 31 | 292 | 0.1062 | 4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129256549 | A | ACCCC | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0044a0001c0001t0001g0072others(13): Show | 16 | 292 | 0.0548 | 4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129267230 | G | GGTGT | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0115a0001c0001t0001g0122a0001c0001t0002g0123others(15): Show | 18 | 292 | 0.0616 | 4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129267241 | G | GTGTA | intron_variant | MODIFIER | HG01123.hp2 HG04115.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0085a0001c0001t0001g0100a0001c0001t0002g0054others(2): Show | 5 | 292 | 0.0171 | 4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129276736 | C | CAAAA | intron_variant | MODIFIER | HG02135.hp2 HG02145.hp2 HG02738.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0146a0001c0001t0003g0154a0001c0001t0003g0159others(7): Show | 10 | 292 | 0.0343 | 4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129299369 | G | GTTTT | intron_variant | MODIFIER | HG00408.hp2 HG02818.hp2 HG03239.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0003a0002c0003t0002 | a0001c0002t0002g0200a0001c0002t0002g0262a0001c0002t0002g0277others(3): Show | 6 | 292 | 0.0206 | 4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129387137 | A | ATAGC | intron_variant | MODIFIER | HG01123.hp2 HG02273.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0033a0001c0001t0011g0290a0001c0001t0011g0291 | 3 | 292 | 0.0103 | 4 | c.476 others(21): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129414420 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0147others(28): Show | 31 | 292 | 0.1062 | 4 | c.146 others(21): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129424398 | T | TAATC | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0088a0001c0001t0002g0049a0001c0001t0014g0067others(1): Show | 4 | 292 | 0.0137 | 4 | c.156 others(21): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHDC1_chr1_27529245_27609144 | 27560200 | T | TTGTG | intron_variant | MODIFIER | HG00642.hp1 HG02273.hp2 HG02572.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0021a0001c0001t0004g0030a0001c0002t0001g0042others(3): Show | 6 | 180 | 0.0333 | 4 | c.-62 others(23): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27573355 | T | TGCCA | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG01891.hp2 others(23): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0007a0003c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0007others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0094others(23): Show | 26 | 180 | 0.1444 | 4 | c.-62 others(25): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27608841 | C | CGTGT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0023others(31): Show | 36 | 180 | 0.2000 | 4 | c.-55 others(15): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4698 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27608986 | G | GGTGT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02258.hp2 others(8): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0019 | a0001c0001t0001a0001c0001t0003a0003c0004t0006others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0086others(7): Show | 11 | 180 | 0.0611 | 4 | c.-57 others(15): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4843 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135287256 | A | AGACG | intron_variant | MODIFIER | HG00639.hp1 HG02922.hp2 |
a0001 | a0001c0013a0001c0018 | a0001c0013t0007a0001c0018t0007 | a0001c0013t0007g0168a0001c0018t0007g0175 | 2 | 220 | 0.0091 | 4 | c.358 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 28/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135290913 | A | AACAC | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0015a0001c0021 | a0001c0001t0015a0001c0015t0010a0001c0021t0010 | a0001c0001t0015g0217a0001c0015t0010g0104a0001c0021t0010g0181 | 3 | 220 | 0.0136 | 4 | c.348 others(21): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135292109 | T | TACAC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp1 others(28): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0016others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0011a0001c0001t0002g0199a0001c0001t0002g0200others(28): Show | 31 | 220 | 0.1409 | 4 | c.348 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135340654 | C | CATAT | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00738.hp2 others(10): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0061a0001c0001t0001g0091a0001c0001t0001g0092others(10): Show | 13 | 220 | 0.0591 | 4 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135340658 | C | CATAT | intron_variant | MODIFIER | HG00738.hp1 HG03669.hp1 |
a0001a0012 | a0001c0001a0012c0011 | a0001c0001t0001a0012c0011t0001 | a0001c0001t0001g0060a0012c0011t0001g0059 | 2 | 220 | 0.0091 | 4 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00733.hp2 others(68): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0005a0005c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0053others(68): Show | 71 | 220 | 0.3227 | 4 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar |