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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATL1_chr14_50555145_50638045 | 50614638 | CAGG | C | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp2 HG02630.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 |
3 | 320 | 0.0094 | -3 | c.862 others(18): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50637663 | AGTT | A | downstream_gene_variant | MODIFIER | HG01975.hp1 HG03669.hp1 HG03669.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0011t0001 | a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0119 others(2): Show |
5 | 320 | 0.0156 | -3 | c.*53 others(14): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 4619 | chr14 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38310020 | TAGC | T | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 NA18943.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0037 | a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0136 others(12): Show |
15 | 236 | 0.0636 | -3 | c.943 others(18): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38310629 | CTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(32): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0005 | a0001c0003t0003a0001c0003t0008a0001c0003t0015others(12): Show | a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 others(32): Show |
35 | 236 | 0.1483 | -3 | c.805 others(18): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38323349 | GTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02145.hp1 others(12): Show |
a0001a0003a0006 | a0001c0003a0003c0004a0003c0005others(1): Show | a0001c0003t0003a0001c0003t0014a0001c0003t0015others(5): Show | a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0023 others(12): Show |
15 | 236 | 0.0636 | -3 | c.364 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325900 | TTTG | T | intron_variant | MODIFIER | HG02622.hp2 HG02965.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0022a0001c0003t0025 | a0001c0003t0003g0011 a0001c0003t0003g0015 a0001c0003t0022g0013 others(1): Show |
4 | 236 | 0.0170 | -3 | c.364 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38331437 | GAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(67): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0002g0053 others(67): Show |
70 | 236 | 0.2966 | -3 | c.363 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38337486 | CAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01243.hp1 others(27): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0002a0001c0003t0003a0001c0003t0008others(9): Show | a0001c0001t0002g0067 a0001c0001t0002g0080 a0001c0001t0002g0106 others(27): Show |
30 | 236 | 0.1271 | -3 | c.363 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38340171 | TGGG | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(21): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0005 | a0001c0003t0003a0001c0003t0004a0001c0003t0008others(10): Show | a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 others(21): Show |
24 | 236 | 0.1017 | -3 | c.363 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38343149 | TAAA | T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(10): Show |
a0001a0003a0006 | a0001c0003a0003c0004a0003c0005others(1): Show | a0001c0003t0003a0001c0003t0008a0001c0003t0015others(6): Show | a0001c0003t0003g0008 a0001c0003t0003g0128 a0001c0003t0008g0020 others(10): Show |
13 | 236 | 0.0551 | -3 | c.363 others(18): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38360128 | CAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01175.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0076 others(13): Show |
16 | 236 | 0.0678 | -3 | c.119 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38372123 | GTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01891.hp2 others(26): Show |
a0001a0003a0004others(1): Show | a0001c0003a0003c0004a0003c0005others(3): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0008others(14): Show | a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 others(26): Show |
29 | 236 | 0.1229 | -3 | c.118 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38373830 | TATA | T | intron_variant | MODIFIER | HG01496.hp2 HG02970.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0014 | a0001c0003t0013g0003 a0001c0003t0014g0001 a0001c0003t0014g0002 |
3 | 236 | 0.0127 | -3 | c.118 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38381464 | GAAA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(100): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0002g0050 others(100): Show |
103 | 236 | 0.4364 | -3 | c.-42 others(14): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 4192 | chr2 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63627699 | CAAT | C | 3_prime_UTR_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0006 | 2 | 242 | 0.0083 | -3 | c.*16 others(14): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 13/13 | 1617 | chr11 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63631023 | TCAG | T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0015a0001c0001t0018others(1): Show | a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(11): Show |
15 | 242 | 0.0620 | -3 | c.153 others(18): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 12/12 | chr11 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63633369 | ATAT | A | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0019 | a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0011g0038 others(4): Show |
7 | 242 | 0.0289 | -3 | c.103 others(20): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 10/12 | chr11 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63634201 | AAAG | A | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp1 HG02572.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(8): Show |
15 | 242 | 0.0620 | -3 | c.103 others(22): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 10/12 | chr11 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63661812 | CCAG | C | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 |
4 | 242 | 0.0165 | -3 | c.47- others(18): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ATMIN_chr16_81030842_81052350 | 81035884 | AGGC | A | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG02257.hp1 HG02523.hp1 others(9): Show |
a0004a0014a0017 | a0004c0007a0014c0027a0017c0028 | a0004c0007t0005a0004c0007t0008a0014c0027t0005others(1): Show | a0004c0007t0005g0007 a0004c0007t0008g0006 a0004c0007t0008g0007 others(2): Show |
12 | 392 | 0.0306 | -3 | c.29_ others(8): Show |
p.Ala others(5): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 1/4 | 58/4881 | 29/2472 | 10/823 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ATM_chr11_108218067_108374102 | 108218433 | TTTA | T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02896.hp2 others(5): Show |
a0002 | a0002c0005 | a0002c0005t0008a0002c0005t0015 | a0002c0005t0008g0095 a0002c0005t0008g0097 a0002c0005t0008g0098 others(5): Show |
8 | 304 | 0.0263 | -3 | c.-47 others(14): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4633 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108219732 | AAAC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(137): Show |
140 | 304 | 0.4605 | -3 | c.-34 others(14): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 3334 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108232527 | CTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01109.hp2 others(50): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0012a0001c0020others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(21): Show | a0001c0001t0001g0210 a0001c0001t0001g0264 a0001c0001t0001g0265 others(50): Show |
53 | 304 | 0.1743 | -3 | c.332 others(20): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108242418 | CATT | C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02896.hp1 others(3): Show |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0009 | a0006c0007t0001g0150 a0006c0007t0001g0156 a0006c0007t0001g0157 others(3): Show |
6 | 304 | 0.0197 | -3 | c.497 others(20): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108290848 | ACTT | A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01243.hp1 others(27): Show |
a0002 | a0002c0002a0002c0005a0002c0009 | a0002c0002t0003a0002c0005t0003a0002c0005t0008others(4): Show | a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0136 others(27): Show |
30 | 304 | 0.0987 | -3 | c.443 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 29/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108325985 | CATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(130): Show |
133 | 304 | 0.4375 | -3 | c.680 others(18): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 46/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108329857 | TATC | T | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 HG02922.hp1 others(1): Show |
a0008a0018 | a0008c0013a0018c0033 | a0008c0013t0012a0018c0033t0012 | a0008c0013t0012g0117 a0008c0013t0012g0119 a0008c0013t0012g0120 others(1): Show |
4 | 304 | 0.0132 | -3 | c.730 others(20): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 49/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108348818 | TAGG | T | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01243.hp1 others(27): Show |
a0002 | a0002c0002a0002c0005a0002c0009 | a0002c0002t0003a0002c0005t0003a0002c0005t0008others(4): Show | a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0136 others(27): Show |
30 | 304 | 0.0987 | -3 | c.867 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 59/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108362560 | CAAT | C | intron_variant | MODIFIER | HG01070.hp1 HG02109.hp2 HG02647.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 others(3): Show |
6 | 304 | 0.0197 | -3 | c.885 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 61/62 | chr11 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6932034 | CAAA | C | intron_variant | MODIFIER | HG01256.hp1 HG02258.hp2 HG02809.hp2 others(6): Show |
a0002a0003a0009others(1): Show | a0002c0013a0003c0002a0003c0049others(2): Show | a0002c0013t0005a0003c0002t0001a0003c0049t0001others(2): Show | a0002c0013t0005g0075 a0003c0002t0001g0042 a0003c0049t0001g0042 others(3): Show |
9 | 414 | 0.0217 | -3 | c.-16 others(22): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6936725 | GCAA | G | disruptive_inframe_deletion | MODERATE | HG01993.hp1 HG02145.hp1 HG03098.hp1 others(2): Show |
a0008 | a0008c0019a0008c0030 | a0008c0019t0001a0008c0019t0010a0008c0030t0001 | a0008c0019t0001g0025 a0008c0019t0001g0085 a0008c0019t0010g0051 others(1): Show |
5 | 414 | 0.0121 | -3 | c.146 others(12): Show |
p.Gln others(6): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2049/4702 | 1461/3573 | 487/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATN1_chr12_6922959_6947321 | 6936728 | ACAG | A | disruptive_inframe_deletion | MODERATE | HG01346.hp1 HG01361.hp1 HG02615.hp2 others(12): Show |
a0008 | a0008c0010a0008c0043 | a0008c0010t0001a0008c0043t0001 | a0008c0010t0001g0003 a0008c0010t0001g0005 a0008c0010t0001g0029 others(8): Show |
15 | 414 | 0.0362 | -3 | c.150 others(12): Show |
p.Gln others(6): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2094/4702 | 1506/3573 | 502/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATOH1_chr4_93823753_93835964 | 93828532 | GAAA | G | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0010g0000 others(2): Show |
18 | 458 | 0.0393 | -3 | c.-39 others(12): Show |
ATOH1 | ENSG00000172238.6 | transcript | ENST00000306011.6 | protein_coding | 220 | chr4 | TogoVar | |||||||
ATOH8_chr2_85748991_85796383 | 85754556 | ACGC | A | disruptive_inframe_deletion | MODERATE | HG02559.hp2 HG02717.hp2 HG02886.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0002a0004c0006t0006a0004c0006t0008others(1): Show | a0004c0006t0002g0046 a0004c0006t0002g0047 a0004c0006t0002g0050 others(3): Show |
6 | 378 | 0.0159 | -3 | c.384 others(10): Show |
p.Pro others(6): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 1/3 | 583/5658 | 384/966 | 128/321 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ATOH8_chr2_85748991_85796383 | 85768078 | AATG | A | intron_variant | MODIFIER | HG02257.hp2 HG02886.hp2 HG02922.hp1 others(10): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0004a0002c0012others(3): Show | a0002c0002t0006a0002c0002t0008a0002c0004t0006others(5): Show | a0002c0002t0006g0308 a0002c0002t0006g0309 a0002c0002t0008g0311 others(7): Show |
13 | 378 | 0.0344 | -3 | c.960 others(20): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATOH8_chr2_85748991_85796383 | 85780377 | GTTC | G | intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 HG02071.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0113 a0001c0001t0001g0213 others(6): Show |
9 | 378 | 0.0238 | -3 | c.961 others(20): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATOH8_chr2_85748991_85796383 | 85782679 | TTTG | T | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01109.hp1 others(90): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(10): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(33): Show | a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0055 others(74): Show |
93 | 378 | 0.2460 | -3 | c.961 others(20): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATOH8_chr2_85748991_85796383 | 85784588 | ATTT | A | intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 HG02129.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0004a0001c0007t0004a0002c0002t0004others(7): Show | a0001c0001t0004g0002 a0001c0001t0004g0023 a0001c0001t0004g0108 others(19): Show |
27 | 378 | 0.0714 | -3 | c.961 others(20): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52640774 | TTTA | T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02717.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0005a0005c0008t0001 | a0001c0001t0005g0210 a0001c0001t0005g0211 a0005c0008t0001g0199 others(1): Show |
4 | 362 | 0.0111 | -3 | c.17- others(20): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52643455 | CTTT | C | intron_variant | MODIFIER | HG02165.hp2 NA18969.hp1 NA18999.hp1 others(3): Show |
a0005 | a0005c0009a0005c0011 | a0005c0009t0001a0005c0011t0001 | a0005c0009t0001g0121 a0005c0009t0001g0122 a0005c0009t0001g0124 others(3): Show |
6 | 362 | 0.0166 | -3 | c.17- others(20): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52679755 | TCTC | T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG03017.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0002c0002t0001a0004c0005t0001 | a0001c0001t0002g0064 a0002c0002t0001g0303 a0004c0005t0001g0117 others(3): Show |
6 | 362 | 0.0166 | -3 | c.-10 others(14): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 368 | chr15 | TogoVar | |||||||
ATOSB_chr9_35099117_35120862 | 35114079 | CTCA | C | intron_variant | MODIFIER | NA18960.hp2 NA18964.hp2 NA18980.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 | 3 | 432 | 0.0069 | -3 | c.-22 others(22): Show |
ATOSB | ENSG00000005238.20 | transcript | ENST00000322813.10 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
ATOX1_chr5_151737822_151763631 | 151752620 | TGGA | T | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0075 |
3 | 378 | 0.0079 | -3 | c.7-8 others(14): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
ATOX1_chr5_151737822_151763631 | 151756466 | CCTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02970.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0076 |
3 | 378 | 0.0079 | -3 | c.6+2 others(16): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
ATOX1_chr5_151737822_151763631 | 151757431 | TTTG | T | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 |
3 | 378 | 0.0079 | -3 | c.6+1 others(16): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25674434 | ACGT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(293): Show |
a0001a0002a0003others(55): Show | a0001c0001a0001c0009a0001c0014others(81): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(93): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 others(293): Show |
296 | 300 | 0.9867 | -3 | c.*49 others(14): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 4277 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25682053 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(186): Show |
a0001a0002a0003others(38): Show | a0001c0001a0002c0002a0002c0022others(58): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(67): Show | a0001c0001t0001g0245 a0002c0002t0001g0006 a0002c0002t0001g0011 others(186): Show |
189 | 300 | 0.6300 | -3 | c.349 others(20): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 17/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25683700 | AAAG | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01243.hp1 others(39): Show |
a0002a0004a0009others(15): Show | a0002c0002a0002c0079a0004c0004others(18): Show | a0002c0002t0001a0002c0079t0001a0004c0004t0001others(20): Show | a0002c0002t0001g0217 a0002c0079t0001g0027 a0004c0004t0001g0068 others(39): Show |
42 | 300 | 0.1400 | -3 | c.329 others(20): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 16/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25690240 | TAAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02071.hp1 HG02132.hp1 others(21): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0003a0003c0013others(7): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(10): Show | a0002c0002t0001g0244 a0003c0003t0001g0102 a0003c0003t0002g0288 others(21): Show |
24 | 300 | 0.0800 | -3 | c.316 others(22): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 15/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25735003 | CGGG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(74): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0014a0002c0002others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(28): Show | a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0070 others(74): Show |
77 | 300 | 0.2567 | -3 | c.740 others(20): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar |