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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGTPBP1_chr9_85541539_85746954 | 85605710 | T | TATAA | intron_variant | MODIFIER | HG01069.hp2 HG01261.hp1 HG01433.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0030 a0001c0001t0002g0203 a0001c0001t0002g0212 others(5): Show |
8 | 300 | 0.0267 | 4 | c.233 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85630461 | C | CGATT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0142 a0001c0001t0002g0160 others(12): Show |
15 | 88 | 0.1705 | 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(44): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0042 others(44): Show |
47 | 132 | 0.3561 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0140 a0001c0001t0002g0266 others(6): Show |
9 | 94 | 0.0957 | 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 | a0001c0001t0001g0023 a0001c0001t0001g0076 a0001c0001t0001g0078 others(1): Show |
4 | 192 | 0.0208 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0094 a0001c0001t0001g0095 others(14): Show |
17 | 205 | 0.0829 | 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(226): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(226): Show |
229 | 300 | 0.7633 | 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 | a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 others(3): Show |
6 | 274 | 0.0219 | 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 | a0001c0001t0002g0224 a0001c0001t0002g0245 a0001c0001t0002g0281 |
3 | 128 | 0.0234 | 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 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(2): Show |
5 | 130 | 0.0385 | 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 |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0043 others(118): Show |
170 | 348 | 0.4885 | 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 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0002 others(8): Show |
62 | 83 | 0.7470 | 4 | c.-33 others(15): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3206 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(9): Show |
29 | 59 | 0.4915 | 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(77): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(27): Show |
80 | 313 | 0.2556 | 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(296): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0034others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0131 others(284): Show |
299 | 382 | 0.7827 | 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(62): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0003a0003c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0131 others(62): Show |
65 | 213 | 0.3052 | 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 |
a0002a0009 | a0002c0002a0009c0010a0009c0024 | a0002c0002t0001a0009c0010t0003a0009c0024t0003 | a0002c0002t0001g0243 a0009c0010t0003g0008 a0009c0010t0003g0150 others(2): Show |
6 | 54 | 0.1111 | 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 | a0001c0001t0001g0225 a0001c0001t0004g0358 a0001c0003t0001g0092 others(13): Show |
16 | 35 | 0.4571 | 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 | a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0008 others(8): Show |
39 | 171 | 0.2281 | 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 |
a0005a0010 | a0005c0005a0010c0014 | a0005c0005t0011a0005c0005t0016a0010c0014t0011 | a0005c0005t0011g0023 a0005c0005t0011g0076 a0005c0005t0016g0023 others(2): Show |
7 | 257 | 0.0272 | 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 | a0001c0001t0002g0034 a0001c0004t0002g0021 a0001c0004t0002g0146 others(8): Show |
11 | 96 | 0.1146 | 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(280): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0007others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(279): Show |
283 | 372 | 0.7608 | 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(343): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0010others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(342): Show |
346 | 352 | 0.9830 | 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 | a0001c0001t0001g0151 a0001c0001t0001g0245 a0001c0001t0001g0260 others(33): Show |
36 | 122 | 0.2951 | 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 | a0001c0001t0001g0172 a0001c0001t0001g0173 a0002c0002t0001g0049 others(7): Show |
10 | 89 | 0.1124 | 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(150): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0042 a0001c0001t0001g0134 a0001c0001t0001g0135 others(149): Show |
153 | 292 | 0.5240 | 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(12): Show |
a0001a0003a0023 | a0001c0001a0001c0019a0003c0003others(1): Show | a0001c0001t0001a0001c0019t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0260 others(12): Show |
15 | 123 | 0.1220 | 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 | a0001c0001t0004g0363 a0001c0001t0004g0364 a0001c0001t0004g0365 others(20): Show |
23 | 158 | 0.1456 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(51): Show |
105 | 348 | 0.3017 | 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(266): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(266): Show |
269 | 290 | 0.9276 | 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 | a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 others(6): Show |
9 | 30 | 0.3000 | 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 | a0001c0001t0002g0004 a0001c0001t0003g0146 a0001c0001t0008g0150 others(28): Show |
31 | 94 | 0.3298 | 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 | a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0072 others(13): Show |
16 | 79 | 0.2025 | 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 | a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0002g0123 others(15): Show |
18 | 270 | 0.0667 | 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 | a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0002g0054 others(2): Show |
5 | 290 | 0.0172 | 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 | a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0157 others(7): Show |
10 | 33 | 0.3030 | 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 | a0001c0002t0002g0200 a0001c0002t0002g0262 a0001c0002t0002g0277 others(3): Show |
6 | 16 | 0.3750 | 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 | a0001c0001t0011g0033 a0001c0001t0011g0290 a0001c0001t0011g0291 |
3 | 290 | 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 | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 others(28): Show |
31 | 73 | 0.4247 | 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 | a0001c0001t0001g0091 a0001c0001t0002g0049 a0001c0001t0014g0066 others(1): Show |
4 | 282 | 0.0142 | 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 |
a0001a0008 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0021 a0001c0001t0003g0030 a0001c0002t0001g0042 others(3): Show |
6 | 22 | 0.2727 | 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 | a0001c0001t0001a0001c0001t0002a0001c0007t0005others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0094 others(23): Show |
26 | 178 | 0.1461 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0023 others(31): Show |
36 | 78 | 0.4615 | 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 |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0018 | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0086 others(7): Show |
11 | 120 | 0.0917 | 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 | a0001c0013t0007g0168 a0001c0018t0007g0175 |
2 | 218 | 0.0092 | 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 | a0001c0001t0015g0217 a0001c0015t0010g0104 a0001c0021t0010g0181 |
3 | 136 | 0.0221 | 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 |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0016others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0011 a0001c0001t0002g0199 a0001c0001t0002g0200 others(28): Show |
31 | 161 | 0.1925 | 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 |
a0001a0008 | a0001c0001a0001c0002a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0095 others(10): Show |
13 | 119 | 0.1092 | 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 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0060 a0007c0011t0001g0059 |
2 | 116 | 0.0172 | 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(67): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0005a0004c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0053 others(67): Show |
70 | 141 | 0.4965 | 4 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar |