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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0003g0152 a0001c0001t0003g0185 a0001c0001t0003g0196 others(1): Show |
4 | 320 | 0.0125 | -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 | 290 | 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 | a0006 | a0006c0009 | a0006c0009t0014 | a0006c0009t0014g0005 | 1 | 232 | 0.0043 | -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 | 234 | 0.0043 | -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 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0068 others(11): Show |
14 | 234 | 0.0598 | -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 | a0002c0002t0001g0098 | 1 | 283 | 0.0035 | -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 | a0044 | a0044c0051 | a0044c0051t0001 | a0044c0051t0001g0024 | 1 | 273 | 0.0037 | -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 | 294 | 0.0034 | -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 | 291 | 0.0034 | -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 | a0045 | a0045c0049 | a0045c0049t0001 | a0045c0049t0001g0175 | 1 | 290 | 0.0034 | -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 | 292 | 0.0034 | -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 | a0001c0001t0001g0064 a0002c0002t0001g0148 |
2 | 287 | 0.0070 | -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 | a0012c0012t0001g0094 | 1 | 266 | 0.0038 | -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 | 231 | 0.0043 | -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 | a0001c0001t0001g0151 a0001c0001t0002g0009 a0001c0001t0002g0010 others(27): Show |
30 | 49 | 0.6122 | -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 | 131 | 0.0076 | -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 | a0001c0002t0001g0167 a0001c0002t0015g0054 a0001c0004t0006g0058 others(11): Show |
14 | 251 | 0.0558 | -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 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 others(9): Show |
12 | 250 | 0.0480 | -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 | 164 | 0.0061 | -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 | a0001c0004t0001a0001c0006t0001a0001c0017t0060others(1): Show | a0001c0004t0001g0107 a0001c0006t0001g0077 a0001c0017t0060g0053 others(1): Show |
4 | 218 | 0.0183 | -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 | a0001c0002t0041 | a0001c0002t0041g0212 | 1 | 252 | 0.0040 | -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 | a0001c0001t0003g0027 | 1 | 326 | 0.0031 | -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 | a0001c0004t0001g0037 a0001c0005t0001g0009 a0001c0005t0001g0030 others(35): Show |
42 | 330 | 0.1273 | -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 | 312 | 0.0032 | -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 | a0009 | a0009c0022 | a0009c0022t0035 | a0009c0022t0035g0064 | 1 | 222 | 0.0045 | -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 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0028 others(20): Show |
24 | 301 | 0.0797 | -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 | a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0096 others(5): Show |
8 | 189 | 0.0423 | -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 | a0001c0001t0002g0149 | 1 | 283 | 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 | 265 | 0.0038 | -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(2): Show |
a0001 | a0001c0003a0001c0005a0001c0011others(1): Show | a0001c0003t0006a0001c0003t0018a0001c0005t0021others(2): Show | a0001c0003t0006g0078 a0001c0003t0018g0057 a0001c0005t0021g0030 others(2): Show |
5 | 120 | 0.0417 | -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 | a0001c0001t0004g0046 a0001c0001t0024g0004 a0001c0001t0040g0038 others(13): Show |
16 | 26 | 0.6154 | -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 | a0001c0001t0002g0295 a0001c0001t0004g0087 a0001c0001t0048g0312 |
3 | 312 | 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 | 143 | 0.0070 | -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 | a0001c0001t0030g0149 | 1 | 251 | 0.0040 | -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 | a0002c0002t0001g0201 | 1 | 236 | 0.0042 | -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 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 a0002c0002t0001g0207 |
2 | 238 | 0.0084 | -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 | a0002c0002t0001g0117 a0005c0005t0001g0208 |
2 | 240 | 0.0083 | -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 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0095 | 1 | 239 | 0.0042 | -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 | a0001c0001t0001g0226 | 1 | 240 | 0.0042 | -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 | a0001c0001t0015g0006 a0001c0001t0028g0174 a0002c0002t0002g0039 others(8): Show |
11 | 251 | 0.0438 | -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 | a0001c0002t0049a0001c0002t0050a0001c0005t0008others(3): Show | a0001c0002t0049g0091 a0001c0002t0050g0090 a0001c0005t0008g0011 others(7): Show |
10 | 310 | 0.0323 | -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 | a0001c0004t0003g0094 a0001c0004t0003g0096 a0001c0004t0003g0098 others(2): Show |
5 | 296 | 0.0169 | -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 | 294 | 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 | 220 | 0.0045 | -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(83): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(83): Show |
86 | 296 | 0.2905 | -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 | 284 | 0.0035 | -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 | a0002c0002t0002g0196 a0002c0002t0002g0209 a0002c0002t0002g0227 |
3 | 296 | 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(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0001t0002g0079 a0001c0003t0002g0135 a0001c0003t0002g0149 others(70): Show |
73 | 285 | 0.2561 | -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 | 79357540 | TGTGTGAG others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(71): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0001t0002g0079 a0001c0003t0002g0135 a0001c0003t0002g0149 others(71): Show |
74 | 296 | 0.2500 | -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 | 79357584 | CCTGTGTG others(25): Show |
C | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 296 | 0.0034 | -32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |