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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGRN_chr1_1015120_1061116 | 1020847 | C | CGGG | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG01257.hp1 others(27): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0014a0001c0004t0001others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0067 others(27): Show |
30 | 65 | 0.4615 | 3 | c.201 others(18): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1029708 | T | TCAG | intron_variant | MODIFIER | HG01257.hp1 HG02895.hp1 HG02922.hp2 others(3): Show |
a0001a0003a0020 | a0001c0007a0001c0059a0001c0063others(3): Show | a0001c0007t0005a0001c0059t0001a0001c0063t0003others(3): Show | a0001c0007t0005g0175 a0001c0059t0001g0166 a0001c0063t0003g0184 others(3): Show |
6 | 208 | 0.0288 | 3 | c.464 others(20): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1030040 | A | ATGG | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01081.hp1 others(37): Show |
a0001a0022a0026others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(34): Show |
40 | 198 | 0.2020 | 3 | c.464 others(20): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1039411 | T | TGGG | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp1 HG01123.hp1 others(31): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0006a0001c0007others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0005others(19): Show | a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0006t0001g0160 others(30): Show |
34 | 61 | 0.5574 | 3 | c.512 others(20): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRP_chr16_67477571_67488547 | 67479213 | A | ATTT | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp2 others(24): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0002 a0002c0003t0001g0005 |
27 | 211 | 0.1280 | 3 | c.*34 others(14): Show |
AGRP | ENSG00000159723.5 | transcript | ENST00000290953.3 | protein_coding | 3357 | chr16 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85551103 | C | CCAT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(132): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(132): Show |
135 | 293 | 0.4608 | 3 | c.350 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | G | GTTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01884.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 others(15): Show |
18 | 121 | 0.1488 | 3 | c.350 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85579409 | A | ATTT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0225 a0001c0002t0003g0285 a0001c0002t0003g0286 others(5): Show |
8 | 300 | 0.0267 | 3 | c.316 others(20): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 23/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85609855 | G | GATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(151): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(151): Show |
154 | 300 | 0.5133 | 3 | c.233 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85625904 | G | GTTT | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01168.hp1 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0041 others(30): Show |
33 | 206 | 0.1602 | 3 | c.201 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85625908 | T | TTTG | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG02896.hp1 others(10): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 others(10): Show |
13 | 300 | 0.0433 | 3 | c.201 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85672732 | A | ATTT | intron_variant | MODIFIER | HG02015.hp2 HG02083.hp1 HG02132.hp2 others(7): Show |
a0001a0006a0007 | a0001c0001a0006c0007a0007c0005 | a0001c0001t0001a0001c0001t0002a0006c0007t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0027 others(7): Show |
10 | 154 | 0.0649 | 3 | c.437 others(16): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 6/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85681745 | C | CTTT | intron_variant | MODIFIER | HG00323.hp2 HG01978.hp1 HG02074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0022 others(11): Show |
14 | 98 | 0.1429 | 3 | c.158 others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85682172 | T | TAAA | intron_variant | MODIFIER | HG01975.hp1 HG02280.hp2 HG02698.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0054 others(10): Show |
13 | 117 | 0.1111 | 3 | c.158 others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85691531 | A | AAAG | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01261.hp2 others(51): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0004a0006c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(51): Show |
54 | 300 | 0.1800 | 3 | c.157 others(20): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85698091 | C | CTTT | intron_variant | MODIFIER | HG01069.hp2 HG01261.hp1 HG01433.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0213 others(4): Show |
7 | 295 | 0.0237 | 3 | c.33- others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85698679 | C | CTTT | intron_variant | MODIFIER | HG02451.hp1 HG02698.hp1 HG03486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0084 others(3): Show |
6 | 65 | 0.0923 | 3 | c.33- others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85710676 | T | TACA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01884.hp1 others(17): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0082 a0001c0001t0001g0133 a0001c0001t0001g0139 others(17): Show |
20 | 296 | 0.0676 | 3 | c.32+ others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85726286 | G | GTTA | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 others(5): Show |
8 | 300 | 0.0267 | 3 | c.-33 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
AGTR1_chr3_148692903_148748003 | 148704366 | G | GAAT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00642.hp1 others(166): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0043 others(117): Show |
169 | 348 | 0.4856 | 3 | c.-13 others(22): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148709955 | G | GGTA | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0161 a0001c0001t0002g0166 a0001c0001t0002g0167 others(1): Show |
4 | 348 | 0.0115 | 3 | c.-48 others(20): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148729013 | C | CAAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(337): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 others(240): Show |
340 | 348 | 0.9770 | 3 | c.-47 others(22): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AGT_chr1_230697523_230719122 | 230718722 | C | CTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(3): Show |
12 | 245 | 0.0490 | 3 | c.-46 others(14): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 4601 | chr1 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35014452 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG02622.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0003g0361 others(3): Show |
6 | 154 | 0.0390 | 3 | c.964 others(18): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35015849 | C | CAAA | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 HG03098.hp1 others(4): Show |
a0002a0005a0018 | a0002c0002a0002c0021a0005c0005others(1): Show | a0002c0002t0004a0002c0021t0004a0005c0005t0002others(1): Show | a0002c0002t0004g0076 a0002c0002t0004g0078 a0002c0002t0004g0079 others(4): Show |
7 | 126 | 0.0556 | 3 | c.964 others(20): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35035602 | G | GGGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0003a0001c0034others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0131 others(305): Show |
322 | 382 | 0.8429 | 3 | c.487 others(18): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240864865 | C | CTTT | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01069.hp2 others(15): Show |
a0001a0003a0011 | a0001c0001a0003c0004a0011c0016 | a0001c0001t0003a0001c0001t0013a0003c0004t0006others(1): Show | a0001c0001t0003g0040 a0001c0001t0013g0033 a0003c0004t0006g0011 others(4): Show |
18 | 279 | 0.0645 | 3 | c.-40 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3958 | chr2 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240865035 | A | ATTT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02559.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0008a0005c0005t0011a0005c0005t0016 | a0001c0001t0008g0019 a0005c0005t0011g0023 a0005c0005t0011g0076 others(1): Show |
6 | 269 | 0.0223 | 3 | c.-38 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3788 | chr2 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002 a0001c0001t0004g0004 a0001c0001t0004g0008 others(2): Show |
12 | 144 | 0.0833 | 3 | c.*17 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01106.hp2 others(4): Show |
a0001a0018 | a0001c0001a0018c0018 | a0001c0001t0002a0018c0018t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0067 others(3): Show |
7 | 257 | 0.0272 | 3 | c.*48 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834949 | A | ATTT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01255.hp2 HG01884.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0015others(6): Show | a0001c0001t0001g0193 a0001c0004t0002g0022 a0001c0004t0002g0327 others(8): Show |
11 | 96 | 0.1146 | 3 | c.*58 others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246842867 | A | ACTG | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00642.hp2 others(89): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0003c0020others(8): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0010others(9): Show | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0315 others(88): Show |
92 | 374 | 0.2460 | 3 | c.652 others(18): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 34/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246864846 | C | CAAA | intron_variant | MODIFIER | HG00741.hp1 HG02071.hp1 HG02071.hp2 others(4): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0024 | a0001c0001t0001a0002c0002t0001a0002c0002t0017others(1): Show | a0001c0001t0001g0209 a0001c0001t0001g0262 a0002c0002t0001g0011 others(4): Show |
7 | 292 | 0.0240 | 3 | c.334 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 26/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246872051 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02615.hp1 others(12): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0023others(6): Show | a0001c0001t0001g0169 a0001c0001t0014g0003 a0001c0001t0023g0374 others(12): Show |
15 | 199 | 0.0754 | 3 | c.308 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 24/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246878396 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00639.hp2 others(76): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0010a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0139 others(76): Show |
79 | 165 | 0.4788 | 3 | c.266 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246885341 | T | TTTG | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0042 a0001c0001t0004g0363 a0001c0001t0004g0364 others(8): Show |
11 | 374 | 0.0294 | 3 | c.266 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246910784 | A | AGAG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(258): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0007others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 others(257): Show |
261 | 374 | 0.6979 | 3 | c.556 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246920142 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00621.hp1 others(88): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0010a0001c0026others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0010t0001others(9): Show | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0174 others(87): Show |
91 | 199 | 0.4573 | 3 | c.-7- others(18): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246924868 | G | GGGT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(233): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0010others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(38): Show | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0133 others(232): Show |
236 | 373 | 0.6327 | 3 | c.-7- others(18): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246931478 | C | CCCG | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02300.hp2 others(1): Show |
a0002a0003a0024 | a0002c0002a0003c0003a0024c0025 | a0002c0002t0001a0003c0003t0001a0024c0025t0001 | a0002c0002t0001g0013 a0002c0002t0001g0014 a0003c0003t0001g0015 others(1): Show |
4 | 130 | 0.0308 | 3 | c.-8+ others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246936456 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02040.hp2 HG02074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(12): Show |
15 | 169 | 0.0888 | 3 | c.-48 others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4509 | chr1 | TogoVar | |||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0018 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0030 others(4): Show |
8 | 139 | 0.0576 | 3 | c.*43 others(14): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129256549 | A | ACAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 others(52): Show |
55 | 118 | 0.4661 | 3 | c.363 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129256549 | A | ACCC | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00735.hp2 others(52): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0015 others(52): Show |
55 | 118 | 0.4661 | 3 | c.363 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129273321 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01099.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0069 a0001c0001t0002g0003 a0001c0001t0002g0171 others(25): Show |
28 | 56 | 0.5000 | 3 | c.363 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129276736 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0151 a0001c0001t0003g0090 a0001c0001t0003g0135 others(74): Show |
77 | 100 | 0.7700 | 3 | c.363 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129349468 | C | CAAA | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01109.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0153 a0001c0001t0002g0185 a0001c0001t0003g0142 others(11): Show |
14 | 67 | 0.2090 | 3 | c.364 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129349651 | C | CAAA | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0292 a0001c0001t0002g0129 a0001c0001t0006g0117 others(3): Show |
6 | 121 | 0.0496 | 3 | c.364 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129394440 | C | CTTT | intron_variant | MODIFIER | HG04199.hp1 NA18979.hp2 NA18985.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0195 a0001c0002t0003g0208 a0001c0002t0003g0231 others(3): Show |
6 | 180 | 0.0333 | 3 | c.721 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129399141 | C | CAAA | intron_variant | MODIFIER | HG01981.hp2 HG03927.hp2 NA18906.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0096 others(7): Show |
10 | 85 | 0.1176 | 3 | c.824 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |