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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGGF1_chr5_77025404_77070234 | 77029535 | GGAACTCA | G | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02895.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017 | a0001c0001t0008g0226a0001c0001t0008g0227a0001c0001t0008g0228others(5): Show | 8 | 438 | 0.0183 | -7 | c.-12 others(18): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 868 | chr5 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77041786 | TTTATTTA | T | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0276others(1): Show | 6 | 438 | 0.0137 | -7 | c.870 others(24): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AGL_chr1_99845361_99929020 | 99856305 | TTCCTCCC | T | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG03130.hp2 |
a0003 | a0003c0006 | a0003c0006t0001a0003c0006t0006 | a0003c0006t0001g0195a0003c0006t0006g0193a0003c0006t0006g0194 | 3 | 318 | 0.0094 | -7 | c.82+ others(22): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15202458 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0005a0006c0012t0001 | a0001c0001t0001g0110a0001c0001t0001g0142a0001c0001t0001g0144others(6): Show | 9 | 236 | 0.0381 | -7 | c.126 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15330057 | ATTTTCTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0029others(75): Show | 78 | 236 | 0.3305 | -7 | c.126 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15342172 | TAAAAAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG02056.hp1 HG02145.hp2 others(3): Show |
a0001a0002a0016 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(2): Show | a0001c0001t0001g0126a0001c0001t0009g0119a0002c0002t0001g0060others(3): Show | 6 | 236 | 0.0254 | -7 | c.126 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15375386 | ATTTTTTT | A | intron_variant | MODIFIER | HG02647.hp1 HG03471.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0003t0001 | a0001c0001t0003g0215a0001c0001t0005g0199a0001c0001t0005g0200others(2): Show | 5 | 236 | 0.0212 | -7 | c.107 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 10/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15495835 | TCTCTCTC | T | intron_variant | MODIFIER | NA19009.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052a0001c0001t0002g0104 | 2 | 236 | 0.0085 | -7 | c.409 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531000 | ATATATTC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(149): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0028others(149): Show | 152 | 236 | 0.6441 | -7 | c.409 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531021 | TATATTCC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(151): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0028others(151): Show | 154 | 236 | 0.6525 | -7 | c.409 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGO1_chr1_35878209_35935532 | 35888235 | TAAAAAAG | T | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0021a0001c0002t0022 | a0001c0002t0004g0190a0001c0002t0021g0191a0001c0002t0022g0192 | 3 | 278 | 0.0108 | -7 | c.26- others(20): Show |
AGO1 | ENSG00000092847.14 | transcript | ENST00000373204.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO2_chr8_140515156_140640633 | 140584590 | TAAAAGGA | T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02280.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0013a0001c0001t0065a0001c0001t0066others(14): Show | a0001c0001t0013g0174a0001c0001t0013g0175a0001c0001t0013g0176others(22): Show | 25 | 338 | 0.0740 | -7 | c.215 others(22): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 2/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140610028 | TAAAAAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(107): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(54): Show | a0001c0001t0001g0062a0001c0001t0001g0158a0001c0001t0001g0218others(107): Show | 110 | 338 | 0.3254 | -7 | c.23- others(24): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 35928565 | TAAGCCAC | T | upstream_gene_variant | MODIFIER | HG02129.hp2 HG03471.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0030a0001c0006t0029 | a0001c0005t0030g0011a0001c0006t0029g0013 | 2 | 258 | 0.0078 | -7 | c.-28 others(18): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2539 | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 35944544 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01074.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0019a0001c0001t0025others(5): Show | a0001c0001t0005g0014a0001c0001t0005g0016a0001c0001t0005g0017others(14): Show | 17 | 258 | 0.0659 | -7 | c.20- others(22): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 35952137 | TTTCTTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(74): Show | 77 | 258 | 0.2985 | -7 | c.191 others(24): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 35952141 | TTTCTTTC | T | intron_variant | MODIFIER | HG01243.hp1 HG02602.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0001t0027others(4): Show | a0001c0001t0003g0069a0001c0001t0003g0074a0001c0001t0003g0119others(6): Show | 9 | 258 | 0.0349 | -7 | c.191 others(24): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGPAT1_chr6_32163212_32181084 | 32166366 | ATGGGGGT | A | downstream_gene_variant | MODIFIER | HG01358.hp2 NA18945.hp1 NA18963.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 12 | 445 | 0.0270 | -7 | c.*29 others(18): Show |
AGPAT1 | ENSG00000204310.13 | transcript | ENST00000375107.8 | protein_coding | 1845 | chr6 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43926636 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(96): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0054a0001c0001t0001g0197a0001c0001t0001g0200others(96): Show | 99 | 342 | 0.2895 | -7 | c.-49 others(26): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT5_chr8_6703642_6766503 | 6724667 | TACCGTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(247): Show | 312 | 404 | 0.7723 | -7 | c.220 others(22): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177389754 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02055.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0001g0142a0001c0001t0005g0250a0001c0001t0005g0251others(23): Show | 26 | 258 | 0.1008 | -7 | c.-30 others(18): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3018 | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177405863 | TAACTCTC | T | intron_variant | MODIFIER | HG02165.hp1 NA18999.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0246a0001c0001t0011g0247a0001c0001t0011g0248 | 3 | 258 | 0.0116 | -7 | c.260 others(26): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177478064 | TATCTGGG | T | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0041 | a0001c0001t0001g0096a0001c0001t0001g0100a0001c0001t0041g0099 | 3 | 258 | 0.0116 | -7 | c.110 others(26): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGTPBP1_chr9_85541539_85746954 | 85668766 | ATTAATAT | A | intron_variant | MODIFIER | HG00544.hp1 HG01975.hp1 HG02698.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0005c0006t0001 | a0001c0001t0001g0025a0001c0001t0001g0041a0001c0001t0001g0056others(5): Show | 8 | 302 | 0.0265 | -7 | c.662 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 8/25 | chr9 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246848706 | TACAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(134): Show |
a0001a0002a0010others(7): Show | a0001c0001a0001c0004a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(20): Show | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0041others(134): Show | 137 | 376 | 0.3644 | -7 | c.639 others(24): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 33/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246878396 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01106.hp1 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0100a0003c0003t0001g0129a0003c0003t0001g0130others(5): Show | 8 | 376 | 0.0213 | -7 | c.266 others(26): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | GTTTTTTT | G | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01074.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0147a0001c0001t0001g0149a0001c0001t0001g0171others(9): Show | 12 | 292 | 0.0411 | -7 | c.363 others(26): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHI1_chr6_135278532_135502740 | 135376881 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01169.hp1 others(19): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0055a0001c0001t0001g0062others(19): Show | 22 | 220 | 0.1000 | -7 | c.310 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135382921 | AAAAAAAT | A | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp1 HG01258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0062a0001c0001t0001g0083a0001c0001t0001g0090others(6): Show | 9 | 220 | 0.0409 | -7 | c.310 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135382923 | AAAAATAT | A | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01074.hp1 others(23): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0054a0001c0001t0001g0057a0001c0001t0001g0060others(23): Show | 26 | 220 | 0.1182 | -7 | c.310 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135382925 | AAATATAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02559.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0016a0005c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0079a0001c0001t0001g0169others(6): Show | 9 | 220 | 0.0409 | -7 | c.310 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHNAK_chr11_62510902_62551806 | 62544380 | TCCATATC | T | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0100a0001c0018t0001g0101a0001c0018t0001g0102 | 3 | 186 | 0.0161 | -7 | c.-10 others(26): Show |
AHNAK | ENSG00000124942.14 | transcript | ENST00000378024.9 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG02451.hp2 others(4): Show |
a0002a0005a0006 | a0002c0002a0005c0005a0006c0006 | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(2): Show | a0002c0002t0001g0121a0002c0002t0001g0190a0002c0002t0006g0079others(4): Show | 7 | 268 | 0.0261 | -7 | c.*66 others(18): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222688271 | TTCCTCTC | T | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG02148.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012a0001c0001t0004g0045a0001c0001t0004g0046others(6): Show | 10 | 368 | 0.0272 | -7 | c.290 others(22): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31613161 | AAAAAAAC | A | upstream_gene_variant | MODIFIER | HG02071.hp2 HG02683.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 6 | 437 | 0.0137 | -7 | c.-21 others(18): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 2072 | chr6 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70125437 | CAAAAAAA | C | intron_variant | MODIFIER | HG02132.hp1 HG02280.hp1 HG02451.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(8): Show | a0001c0001t0001g0079a0001c0001t0005g0066a0001c0001t0011g0044others(11): Show | 16 | 468 | 0.0342 | -7 | c.-13 others(24): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143060820 | CGCCCGCG | C | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010a0001c0002t0001g0011 | 2 | 204 | 0.0098 | -7 | c.-10 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 68 | chr6 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6438562 | TTGGCCAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(55): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0018others(215): Show | 260 | 454 | 0.5727 | -7 | c.-34 others(18): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 3442 | chr17 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4652704 | CGGTTGCA | C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG03486.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0015a0001c0001t0066a0001c0002t0011others(3): Show | a0001c0001t0015g0322a0001c0001t0066g0234a0001c0002t0011g0235others(3): Show | 6 | 334 | 0.0180 | -7 | c.-27 others(18): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1904 | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4671405 | GAGGACAT | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(90): Show | a0001c0001t0002g0306a0001c0001t0003g0304a0001c0001t0003g0318others(101): Show | 107 | 334 | 0.3204 | -7 | c.29+ others(24): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4705395 | CTTTTTTT | C | intron_variant | MODIFIER | HG01943.hp1 HG01975.hp1 HG02129.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0055a0001c0001t0154a0001c0001t0190others(6): Show | a0001c0001t0055g0017a0001c0001t0154g0045a0001c0001t0190g0319others(6): Show | 9 | 334 | 0.0270 | -7 | c.30- others(22): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK3_chr9_4704556_4746202 | 4710374 | ATTTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0014others(5): Show | a0001c0001t0004g0040a0001c0001t0004g0043a0001c0001t0004g0063others(43): Show | 46 | 462 | 0.0996 | -7 | c.*25 others(18): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 5/5 | 2595 | chr9 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65152384 | ATTTTTTT | A | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG02071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(11): Show | a0001c0001t0001g0116a0001c0001t0001g0133a0001c0001t0010g0097others(20): Show | 23 | 300 | 0.0767 | -7 | c.145 others(24): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65211237 | AGTAATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0018a0001c0001t0001g0111a0001c0001t0001g0116others(136): Show | 139 | 300 | 0.4633 | -7 | c.266 others(24): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65226809 | TTTTTTTC | T | 3_prime_UTR_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG03195.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0001c0001t0056a0002c0004t0009 | a0001c0001t0009g0003a0001c0001t0009g0267a0001c0001t0009g0269others(3): Show | 6 | 300 | 0.0200 | -7 | c.*63 others(16): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 5/5 | 639 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AK5_chr1_77277019_77564966 | 77279234 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(51): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0042others(51): Show | 54 | 284 | 0.1901 | -7 | c.-30 others(18): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 2784 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77281921 | GGCGCGGA | G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01192.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0280a0001c0001t0004g0269a0001c0001t0004g0270others(14): Show | 17 | 284 | 0.0599 | -7 | c.-39 others(16): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 97 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77368232 | TATATATA | T | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0012 | a0001c0001t0001g0004a0002c0002t0002g0002a0002c0002t0012g0003 | 3 | 284 | 0.0106 | -7 | c.891 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77376444 | AAAAAAAC | A | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03098.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0024a0002c0002t0002others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0224a0001c0001t0024g0234others(8): Show | 11 | 284 | 0.0387 | -7 | c.892 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77499869 | CATTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01257.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0048a0001c0001t0001g0057others(25): Show | 28 | 284 | 0.0986 | -7 | c.114 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 10/13 | chr1 | TogoVar |