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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASZ1_chr7_117358222_117432493 | 117379164 | TATATAC | T | intron_variant | MODIFIER | HG02165.hp2 HG02630.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0210 |
3 | 300 | 0.0100 | -6 | c.105 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117387307 | TCAACAA | T | intron_variant | MODIFIER | HG03017.hp2 HG03654.hp1 NA18953.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0200 a0002c0002t0002g0081 a0002c0002t0002g0097 |
3 | 92 | 0.0326 | -6 | c.441 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117412039 | AGTGTGT | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0071 a0001c0001t0001g0192 a0001c0001t0001g0250 others(10): Show |
13 | 184 | 0.0707 | -6 | c.440 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23777348 | ATATATC | A | intron_variant | MODIFIER | HG02257.hp1 NA18963.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0144 a0001c0001t0001g0174 a0001c0001t0004g0114 |
3 | 83 | 0.0361 | -6 | c.313 others(25): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 22/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23780267 | TTGTGTG | T | intron_variant | MODIFIER | HG01081.hp2 HG02074.hp1 HG02559.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0174 a0001c0001t0002g0056 a0001c0001t0002g0106 others(4): Show |
7 | 58 | 0.1207 | -6 | c.313 others(25): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 22/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23875548 | AAAGCAT | A | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0117 |
3 | 244 | 0.0123 | -6 | c.977 others(21): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 8/27 | chr2 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123329981 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(219): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0058 others(218): Show |
222 | 238 | 0.9328 | -6 | c.347 others(25): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 24/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123369918 | TTCATCA | T | disruptive_inframe_deletion | MODERATE | HG00597.hp1 HG02809.hp2 HG03688.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0110 a0001c0001t0001g0201 a0001c0001t0001g0207 others(1): Show |
4 | 247 | 0.0162 | -6 | c.828 others(13): Show |
p.Asp others(13): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 7/28 | 923/5547 | 828/4173 | 276/1390 | chr8 | TogoVar | |||
ATAD3A_chr1_1507162_1539685 | 1518666 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0005a0001c0004t0005a0001c0004t0028 | a0001c0003t0005g0020 a0001c0003t0005g0060 a0001c0003t0005g0062 others(9): Show |
13 | 353 | 0.0368 | -6 | c.445 others(21): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3B_chr1_1466765_1502848 | 1470425 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02965.hp2 HG03225.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0027 a0003c0005t0004g0028 a0003c0005t0004g0175 others(2): Show |
7 | 230 | 0.0304 | -6 | c.-14 others(17): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 1339 | chr1 | TogoVar | |||||||
ATAD3C_chr1_1444689_1475163 | 1455216 | CAAAAAA | C | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03453.hp2 others(4): Show |
a0001a0002a0003 | a0001c0005a0001c0022a0002c0002others(3): Show | a0001c0005t0133a0001c0022t0137a0002c0002t0009others(3): Show | a0001c0005t0133g0307 a0001c0022t0137g0300 a0002c0002t0009g0125 others(3): Show |
7 | 60 | 0.1167 | -6 | c.379 others(21): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1469099 | TAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG02145.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0031a0001c0001t0168a0001c0004t0040others(1): Show | a0001c0001t0031g0019 a0001c0001t0031g0231 a0001c0001t0031g0262 others(4): Show |
7 | 54 | 0.1296 | -6 | c.*60 others(15): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 12/12 | 601 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATAD3C_chr1_1444689_1475163 | 1470425 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03225.hp1 HG03453.hp2 others(3): Show |
a0003a0006 | a0003c0021a0006c0009 | a0003c0021t0042a0006c0009t0045a0006c0009t0145others(1): Show | a0003c0021t0042g0039 a0006c0009t0045g0034 a0006c0009t0045g0212 others(2): Show |
6 | 295 | 0.0203 | -6 | c.*18 others(17): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 263 | chr1 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30834937 | ACAATGT | A | disruptive_inframe_deletion | MODERATE | HG00544.hp2 HG00639.hp1 HG00642.hp2 others(61): Show |
a0002 | a0002c0002a0002c0012a0002c0019 | a0002c0002t0002a0002c0002t0009a0002c0002t0019others(2): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(56): Show |
64 | 284 | 0.2254 | -6 | c.861 others(13): Show |
p.Met others(13): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 2/23 | 1243/6873 | 861/5535 | 287/1844 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ATAD5_chr17_30826966_30900869 | 30850831 | TTTTATA | T | intron_variant | MODIFIER | HG01071.hp1 HG01099.hp1 HG01361.hp2 others(8): Show |
a0001a0010 | a0001c0001a0001c0007a0010c0013 | a0001c0001t0001a0001c0007t0003a0010c0013t0001 | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0125 others(8): Show |
11 | 247 | 0.0445 | -6 | c.245 others(25): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30854369 | ATTTTTT | A | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00642.hp2 others(61): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012others(1): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0009others(3): Show | a0001c0001t0003g0224 a0002c0002t0002g0001 a0002c0002t0002g0002 others(56): Show |
64 | 108 | 0.5926 | -6 | c.245 others(23): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30876702 | CTTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02572.hp1 others(9): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0006 | a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 others(9): Show |
12 | 99 | 0.1212 | -6 | c.378 others(23): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30885623 | CTTTTTT | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02622.hp1 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0002c0002t0002a0006c0006t0001others(1): Show | a0001c0001t0001g0139 a0001c0001t0001g0151 a0002c0002t0002g0024 others(4): Show |
7 | 120 | 0.0583 | -6 | c.407 others(25): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3879559 | AAGAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00673.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0070 others(10): Show |
13 | 382 | 0.0340 | -6 | c.-14 others(17): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1125 | chr19 | TogoVar | |||||||
ATE1_chr10_121735424_121933031 | 121778564 | CTTTTTT | C | intron_variant | MODIFIER | HG01978.hp1 HG02622.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0006a0001c0003t0003a0001c0004t0001others(1): Show | a0001c0002t0006g0078 a0001c0002t0006g0079 a0001c0002t0006g0080 others(3): Show |
6 | 13 | 0.4615 | -6 | c.137 others(27): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 11/11 | chr10 | TogoVar | |||||||
ATE1_chr10_121735424_121933031 | 121786202 | GTTTTTT | G | intron_variant | MODIFIER | HG01109.hp1 HG02895.hp2 HG03041.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0008others(4): Show | a0001c0002t0003g0197 a0001c0002t0006g0211 a0001c0002t0008g0018 others(7): Show |
10 | 14 | 0.7143 | -6 | c.137 others(25): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 11/11 | chr10 | TogoVar | |||||||
ATE1_chr10_121735424_121933031 | 121801550 | TAATATA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(186): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 others(186): Show |
189 | 318 | 0.5943 | -6 | c.125 others(27): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 10/11 | chr10 | TogoVar | |||||||
ATF1_chr12_50759101_50826162 | 50785284 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01167.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0294 a0001c0001t0001g0297 others(39): Show |
45 | 51 | 0.8824 | -6 | c.93+ others(21): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50823528 | TATAATC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(115): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0010a0001c0002t0011others(1): Show | a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0013 others(106): Show |
118 | 379 | 0.3113 | -6 | c.*37 others(17): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2367 | chr12 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175085549 | AACATAC | A | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 NA18980.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0190 others(2): Show |
5 | 194 | 0.0258 | -6 | c.118 others(25): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 12/13 | chr2 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175085553 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0060 others(28): Show |
31 | 95 | 0.3263 | -6 | c.118 others(25): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 12/13 | chr2 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175107522 | GCTCCCT | G | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001 | a0001c0001t0001g0047 a0001c0001t0003g0002 a0001c0001t0003g0141 others(15): Show |
19 | 208 | 0.0913 | -6 | c.828 others(23): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 10/13 | chr2 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175141794 | CTATAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0141 a0001c0001t0003g0142 others(13): Show |
17 | 222 | 0.0766 | -6 | c.-43 others(23): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175142685 | AAGAGAG | A | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02055.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 others(15): Show |
18 | 168 | 0.1071 | -6 | c.-43 others(23): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175142716 | AGAGAGT | A | intron_variant | MODIFIER | HG03471.hp1 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 |
3 | 189 | 0.0159 | -6 | c.-43 others(23): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
ATF3_chr1_212603761_212625775 | 212603776 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02015.hp2 HG02083.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(7): Show |
18 | 128 | 0.1406 | -6 | c.-51 others(17): Show |
ATF3 | ENSG00000162772.18 | transcript | ENST00000341491.9 | protein_coding | 4984 | chr1 | TogoVar | |||||||
ATF4_chr22_39515562_39527683 | 39523574 | GGAGAGT | G | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02970.hp1 HG03225.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0005 | 3 | 352 | 0.0085 | -6 | c.*97 others(15): Show |
ATF4 | ENSG00000128272.18 | transcript | ENST00000674920.3 | protein_coding | 892 | chr22 | TogoVar | |||||||
ATF4_chr22_39515562_39527683 | 39525274 | ATGAAGT | A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp1 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 10 | 352 | 0.0284 | -6 | c.*26 others(17): Show |
ATF4 | ENSG00000128272.18 | transcript | ENST00000674920.3 | protein_coding | 2592 | chr22 | TogoVar | |||||||
ATF5_chr19_49924205_49938935 | 49934258 | AAAAGGG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00738.hp1 others(26): Show |
a0001 | a0001c0005a0001c0009 | a0001c0005t0001a0001c0005t0003a0001c0005t0005others(3): Show | a0001c0005t0001g0002 a0001c0005t0001g0003 a0001c0005t0001g0015 others(5): Show |
29 | 408 | 0.0711 | -6 | c.*11 others(17): Show |
ATF5 | ENSG00000169136.13 | transcript | ENST00000423777.7 | protein_coding | 324 | chr19 | TogoVar | |||||||
ATF6_chr1_161761320_161969070 | 161774406 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(82): Show |
a0002a0004a0006others(1): Show | a0002c0003a0004c0005a0004c0006others(3): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0008others(17): Show | a0002c0003t0002g0235 a0002c0003t0002g0238 a0002c0003t0002g0239 others(81): Show |
85 | 187 | 0.4545 | -6 | c.83- others(21): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161790809 | TCAACAA | T | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp1 HG01517.hp2 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0028others(4): Show | a0001c0001t0004g0163 a0001c0001t0004g0169 a0001c0001t0004g0170 others(13): Show |
16 | 106 | 0.1509 | -6 | c.355 others(21): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161812371 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01358.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0004a0001c0001t0020a0001c0001t0048others(8): Show | a0001c0001t0004g0171 a0001c0001t0004g0195 a0001c0001t0004g0206 others(16): Show |
19 | 32 | 0.5938 | -6 | c.910 others(23): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161851233 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(36): Show | a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0004g0180 others(151): Show |
158 | 174 | 0.9080 | -6 | c.132 others(23): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161894521 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01361.hp2 others(10): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0002a0002c0003t0008a0002c0003t0010others(2): Show | a0002c0003t0002g0240 a0002c0003t0002g0268 a0002c0003t0002g0270 others(10): Show |
13 | 26 | 0.5000 | -6 | c.172 others(27): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161947810 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(98): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0021a0001c0002t0001a0001c0002t0003others(19): Show | a0001c0001t0021g0003 a0001c0002t0001g0023 a0001c0002t0001g0152 others(97): Show |
101 | 118 | 0.8559 | -6 | c.180 others(27): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161968222 | CTTTTCT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(67): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0051a0001c0002t0001a0001c0002t0003others(12): Show | a0001c0001t0051g0168 a0001c0002t0001g0155 a0001c0002t0001g0160 others(67): Show |
70 | 330 | 0.2121 | -6 | c.*95 others(17): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 4153 | chr1 | TogoVar | |||||||
ATF7IP2_chr16_10381061_10488638 | 10414657 | GTGTGTT | G | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0005 a0001c0005t0006g0369 a0001c0005t0006g0370 others(1): Show |
5 | 373 | 0.0134 | -6 | c.-20 others(21): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATF7IP2_chr16_10381061_10488638 | 10479958 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG01169.hp2 others(14): Show |
a0001a0005 | a0001c0002a0005c0017 | a0001c0002t0003a0001c0002t0005a0005c0017t0005 | a0001c0002t0003g0358 a0001c0002t0003g0359 a0001c0002t0003g0360 others(14): Show |
17 | 43 | 0.3953 | -6 | c.155 others(23): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14387207 | AAAAAAG | A | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp1 HG02132.hp2 others(6): Show |
a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0005 a0005c0007t0010g0314 a0005c0007t0010g0315 others(5): Show |
9 | 344 | 0.0262 | -6 | c.-8+ others(23): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14397718 | AAATATC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(87): Show |
a0002a0004a0011others(2): Show | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0026a0002c0002t0037others(7): Show | a0002c0002t0001g0007 a0002c0002t0001g0204 a0002c0002t0001g0205 others(86): Show |
90 | 344 | 0.2616 | -6 | c.-7- others(23): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14399185 | CTTATAT | C | intron_variant | MODIFIER | HG01123.hp2 HG02257.hp1 HG02970.hp2 others(14): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0003 a0003c0003t0004g0186 a0003c0003t0004g0187 others(13): Show |
17 | 344 | 0.0494 | -6 | c.-7- others(23): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14405403 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01346.hp1 others(15): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0003c0005others(2): Show | a0001c0001t0003a0003c0003t0005a0003c0003t0025others(5): Show | a0001c0001t0003g0081 a0003c0003t0005g0313 a0003c0003t0025g0172 others(15): Show |
18 | 98 | 0.1837 | -6 | c.-7- others(23): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14422312 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(90): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0004others(7): Show | a0001c0001t0002a0001c0001t0029a0002c0002t0001others(12): Show | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 others(90): Show |
93 | 126 | 0.7381 | -6 | c.-7- others(21): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14465726 | GTTTAAC | G | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp1 HG02132.hp2 others(6): Show |
a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0005 a0005c0007t0010g0314 a0005c0007t0010g0315 others(5): Show |
9 | 344 | 0.0262 | -6 | c.279 others(23): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14473288 | CTCTGTG | C | intron_variant | MODIFIER | HG01099.hp2 HG03239.hp1 HG03486.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0112 others(3): Show |
6 | 77 | 0.0779 | -6 | c.286 others(25): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |