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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG2B_chr14_96274195_96368341 | 96308225 | TATATACA others(25): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0010 | a0005c0010t0009 | a0005c0010t0009g0105 | 1 | 356 | 0.0028 | -32 | c.430 others(51): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62850854 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02622.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0012g0017 | 3 | 322 | 0.0093 | -32 | c.120 others(51): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62850871 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00741.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151a0001c0001t0003g0183a0001c0001t0003g0197others(1): Show | 4 | 322 | 0.0124 | -32 | c.120 others(51): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11287025 | CCGAAGTG others(25): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 292 | 0.0034 | -32 | c.-11 others(49): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325609 | TACACACA others(25): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0009 | a0005c0009t0020 | a0005c0009t0020g0005 | 1 | 236 | 0.0042 | -32 | c.364 others(49): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325629 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 236 | 0.0042 | -32 | c.364 others(49): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325667 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp2 HG01256.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0050a0001c0001t0002g0053a0001c0001t0002g0068others(11): Show | 14 | 236 | 0.0593 | -32 | c.364 others(49): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757885 | CCTAACTC others(25): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 300 | 0.0033 | -32 | c.655 others(51): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758053 | CCTAACTC others(25): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0030 | a0030c0051 | a0030c0051t0001 | a0030c0051t0001g0024 | 1 | 300 | 0.0033 | -32 | c.655 others(51): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758137 | CCTAACTC others(25): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0293 | 1 | 300 | 0.0033 | -32 | c.655 others(51): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758193 | CCTAACTC others(25): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0204 | 1 | 300 | 0.0033 | -32 | c.655 others(51): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758473 | CCTAACTC others(25): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0039 | a0039c0049 | a0039c0049t0001 | a0039c0049t0001g0175 | 1 | 300 | 0.0033 | -32 | c.655 others(51): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758501 | CCTAACTC others(25): Show |
C | intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 300 | 0.0033 | -32 | c.655 others(51): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758529 | CCTAACTC others(25): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03654.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0063a0002c0002t0001g0147 | 2 | 300 | 0.0067 | -32 | c.655 others(51): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758613 | CCTAACTC others(25): Show |
C | intron_variant | MODIFIER | HG01257.hp1 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0093 | 1 | 300 | 0.0033 | -32 | c.654 others(51): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755824 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0097 | 1 | 236 | 0.0042 | -32 | c.-33 others(53): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160766337 | AACACACA others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00673.hp1 others(27): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0147a0001c0001t0002g0009a0001c0001t0002g0010others(27): Show | 30 | 236 | 0.1271 | -32 | c.-33 others(53): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160822989 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0007 | 1 | 236 | 0.0042 | -32 | c.-57 others(53): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112779098 | ACTGGAGT others(25): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp2 HG01891.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0017others(7): Show | a0001c0002t0001a0001c0002t0015a0001c0004t0006others(9): Show | a0001c0002t0001g0167a0001c0002t0015g0054a0001c0004t0006g0058others(11): Show | 14 | 254 | 0.0551 | -32 | c.40- others(47): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112840140 | TCCAGCCT others(25): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG02015.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0039 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0029others(9): Show | 12 | 254 | 0.0472 | -32 | c.170 others(51): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112840172 | CCCAGCCT others(25): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 254 | 0.0039 | -32 | c.170 others(51): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112840203 | GTCCAGCC others(25): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01891.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006a0001c0017others(1): Show | a0001c0004t0001a0001c0006t0001a0001c0017t0058others(1): Show | a0001c0004t0001g0106a0001c0006t0001g0077a0001c0017t0058g0053others(1): Show | 4 | 254 | 0.0158 | -32 | c.170 others(51): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112845775 | GTACTAAC others(25): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0212 | 1 | 254 | 0.0039 | -32 | c.180 others(51): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141876041 | CAGAGCGT others(25): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 408 | 0.0025 | -32 | c.-76 others(41): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 601 | chr3 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3944859 | GTCCGCCT others(25): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0005a0001c0007others(10): Show | a0001c0004t0001a0001c0005t0001a0001c0005t0002others(15): Show | a0001c0004t0001g0037a0001c0005t0001g0006a0001c0005t0001g0023others(36): Show | 42 | 332 | 0.1265 | -32 | c.118 others(47): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 9/20 | chr17 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624241 | GGAAGGAA others(25): Show |
G | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0039 | a0001c0006t0039g0018 | 1 | 318 | 0.0031 | -32 | c.-34 others(43): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2590 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624253 | GGAAAGAA others(25): Show |
G | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0007 | a0007c0022 | a0007c0022t0035 | a0007c0022t0035g0064 | 1 | 318 | 0.0031 | -32 | c.-34 others(43): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2578 | chr1 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546451 | CATATATA others(25): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01099.hp1 others(21): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0051others(21): Show | 24 | 410 | 0.0585 | -32 | c.-46 others(43): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3875 | chr2 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02027.hp2 HG02135.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0094others(5): Show | 8 | 286 | 0.0280 | -32 | c.127 others(49): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755714 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 286 | 0.0035 | -32 | c.127 others(49): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755720 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 286 | 0.0035 | -32 | c.127 others(49): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531425 | ATATATGA others(25): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0011others(1): Show | a0001c0003t0006a0001c0003t0018a0001c0003t0061others(3): Show | a0001c0003t0006g0078a0001c0003t0018g0057a0001c0003t0061g0055others(3): Show | 6 | 122 | 0.0492 | -32 | c.420 others(47): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25829668 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0024a0001c0001t0040others(13): Show | a0001c0001t0004g0046a0001c0001t0024g0003a0001c0001t0040g0038others(13): Show | 16 | 122 | 0.1312 | -32 | c.275 others(51): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57661644 | CACGCACA others(25): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0048 | a0001c0001t0002g0295a0001c0001t0004g0087a0001c0001t0048g0312 | 3 | 314 | 0.0096 | -32 | c.241 others(49): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 21/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57731308 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0304 | 1 | 314 | 0.0032 | -32 | c.181 others(47): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072952 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0150 | 1 | 254 | 0.0039 | -32 | c.87+ others(47): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072960 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 254 | 0.0039 | -32 | c.87+ others(47): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072962 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02129.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0201a0002c0002t0001g0172a0002c0002t0001g0205 | 3 | 254 | 0.0118 | -32 | c.87+ others(47): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072964 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG03669.hp1 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0118a0005c0005t0001g0207 | 2 | 254 | 0.0079 | -32 | c.87+ others(47): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072968 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0096 | 1 | 254 | 0.0039 | -32 | c.87+ others(47): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072970 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 254 | 0.0039 | -32 | c.87+ others(47): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086625 | TAGAGATC others(25): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG02083.hp2 HG02615.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0015a0001c0001t0028a0002c0002t0002others(6): Show | a0001c0001t0015g0012a0001c0001t0028g0175a0002c0002t0002g0044others(8): Show | 11 | 254 | 0.0433 | -32 | c.29- others(49): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51651279 | CATAATAT others(25): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0052a0001c0002t0053a0001c0005t0008others(3): Show | a0001c0002t0052g0091a0001c0002t0053g0090a0001c0005t0008g0003others(7): Show | 10 | 312 | 0.0321 | -32 | c.150 others(51): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79355620 | CTACCGTT others(25): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0003a0001c0006t0003 | a0001c0004t0003g0092a0001c0004t0003g0094a0001c0004t0003g0098others(2): Show | 5 | 298 | 0.0168 | -32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356824 | TGTGTGAG others(25): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0257 | 1 | 298 | 0.0034 | -32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356884 | TCTGGGTC others(25): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 298 | 0.0034 | -32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356902 | TGTGTGAG others(25): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(84): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(84): Show | 87 | 298 | 0.2920 | -32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356962 | TCTGGGTC others(25): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0257 | 1 | 298 | 0.0034 | -32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357241 | CTCTGGGT others(25): Show |
C | intron_variant | MODIFIER | NA18945.hp1 NA18970.hp1 NA19007.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0200a0002c0002t0002g0212a0002c0002t0002g0228 | 3 | 298 | 0.0101 | -32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357242 | TCTGGGTC others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(70): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0001t0002g0079a0001c0003t0002g0135a0001c0003t0002g0149others(70): Show | 73 | 298 | 0.2450 | -32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |