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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATCAY_chr19_3875685_3933082 | 3879506 | AAAGAAAG others(16): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01109.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0188 others(41): Show |
44 | 276 | 0.1594 | -23 | c.-15 others(34): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1178 | chr19 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175107548 | CGGTCTCC others(16): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 222 | 0.0045 | -23 | c.828 others(40): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 10/13 | chr2 | TogoVar | |||||||
ATF4_chr22_39515562_39527683 | 39523384 | CTTCTGGC others(16): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01884.hp1 others(14): Show |
a0003a0005a0006 | a0003c0003a0005c0004a0006c0006 | a0003c0003t0001a0005c0004t0001a0006c0006t0001 | a0003c0003t0001g0002 a0005c0004t0001g0003 a0006c0006t0001g0003 |
17 | 352 | 0.0483 | -23 | c.*78 others(32): Show |
ATF4 | ENSG00000128272.18 | transcript | ENST00000674920.3 | protein_coding | 702 | chr22 | TogoVar | |||||||
ATF7IP2_chr16_10381061_10488638 | 10479958 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00673.hp1 others(53): Show |
a0001a0002a0003 | a0001c0005a0002c0001a0003c0004others(3): Show | a0001c0005t0006a0002c0001t0001a0002c0001t0002others(5): Show | a0001c0005t0006g0005 a0001c0005t0006g0030 a0001c0005t0006g0367 others(51): Show |
56 | 82 | 0.6829 | -23 | c.155 others(40): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATG101_chr12_52064978_52082495 | 52073890 | TGGGGAGT others(16): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01123.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004 | a0002c0002t0001g0007 a0002c0002t0002g0040 a0002c0002t0002g0043 others(7): Show |
28 | 392 | 0.0714 | -23 | c.252 others(36): Show |
ATG101 | ENSG00000123395.15 | transcript | ENST00000336854.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATG12_chr5_115823200_115846565 | 115845836 | CAAAAAAA others(16): Show |
C | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 74 | 0.0135 | -23 | c.-43 others(34): Show |
ATG12 | ENSG00000145782.13 | transcript | ENST00000509910.2 | protein_coding | 4272 | chr5 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402915 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0035 | 1 | 361 | 0.0028 | -23 | c.222 others(40): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402917 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0218 a0001c0001t0014g0256 |
2 | 360 | 0.0056 | -23 | c.222 others(40): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402919 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 351 | 0.0028 | -23 | c.222 others(40): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402925 | AAATATAT others(16): Show |
A | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0066 | 1 | 344 | 0.0029 | -23 | c.222 others(40): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402927 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 336 | 0.0030 | -23 | c.222 others(40): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG2A_chr11_64889546_64922209 | 64898410 | GCAGCTCA others(16): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0057 | 1 | 370 | 0.0027 | -23 | c.467 others(38): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 32/40 | chr11 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112566756 | TAAGACCT others(16): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 374 | 0.0027 | -23 | c.-52 others(34): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 4795 | chr3 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106246218 | AAGTGCCT others(16): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 356 | 0.0028 | -23 | c.573 others(40): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11462839 | ATTTTTAT others(16): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 290 | 0.0034 | -23 | c.207 others(44): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11553266 | TTCACCTC others(16): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(243): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(243): Show |
246 | 290 | 0.8483 | -23 | c.208 others(42): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215337616 | CTCGGCCT others(16): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 380 | 0.0026 | -23 | c.109 others(42): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755839 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp2 HG03041.hp1 others(1): Show |
a0001a0003a0007 | a0001c0011a0003c0007a0007c0015 | a0001c0011t0025a0003c0007t0015a0007c0015t0004 | a0001c0011t0025g0028 a0003c0007t0015g0215 a0007c0015t0004g0176 others(1): Show |
4 | 219 | 0.0183 | -23 | c.-33 others(44): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(16): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 9 | 70 | 0.1286 | -23 | c.-29 others(34): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02630.hp2 HG02717.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0003a0002c0007t0017 | a0001c0001t0001g0178 a0001c0001t0003g0107 a0001c0001t0003g0240 others(1): Show |
4 | 65 | 0.0615 | -23 | c.284 others(42): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | |||||||
ATP1A1_chr1_116368244_116409774 | 116398906 | AGTAAAAA others(16): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0068 | 1 | 334 | 0.0030 | -23 | c.229 others(35): Show |
p.Gly others(5): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 17/23 | 2294/3072 | 765/1023 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||
ATP1B4_chrX_120357089_120388237 | 120374520 | CATATACC others(16): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0123 others(10): Show |
17 | 350 | 0.0486 | -23 | c.563 others(38): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84455549 | CTTAATAC others(16): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(167): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0419 others(167): Show |
170 | 430 | 0.3953 | -23 | c.214 others(40): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP4A_chr19_35545031_35568658 | 35547956 | GCAGCCAC others(16): Show |
G | downstream_gene_variant | MODIFIER | NA18956.hp1 | a0009 | a0009c0023 | a0009c0023t0001 | a0009c0023t0001g0143 | 1 | 424 | 0.0024 | -23 | c.*26 others(34): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 2074 | chr19 | TogoVar | |||||||
ATP4B_chr13_113643804_113663198 | 113653218 | TGCTTCAC others(16): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02738.hp1 HG04184.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0060 a0001c0002t0001g0093 a0001c0004t0001g0020 others(3): Show |
8 | 451 | 0.0177 | -23 | c.355 others(37): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 3/6 | chr13 | TogoVar | |||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0143 a0001c0001t0001g0155 others(1): Show |
7 | 27 | 0.2593 | -23 | c.-7- others(36): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
ATP6V0D1_chr16_67433019_67486157 | 67460297 | GGCTGGTG others(16): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 a0001c0001t0002g0049 |
2 | 172 | 0.0116 | -23 | c.131 others(40): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/7 | chr16 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10786509 | CTCTCCAC others(16): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01070.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(47): Show |
51 | 352 | 0.1449 | -23 | c.*32 others(34): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 1400 | chr2 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10789087 | TTCTCCCA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 352 | 0.0028 | -23 | c.*58 others(34): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3978 | chr2 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631694 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | NA18994.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0214 a0001c0001t0004g0217 |
2 | 367 | 0.0054 | -23 | c.-30 others(34): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2946 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631696 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 360 | 0.0028 | -23 | c.-30 others(34): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2948 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631698 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01934.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 a0001c0001t0004g0208 a0001c0001t0004g0211 others(7): Show |
10 | 360 | 0.0278 | -23 | c.-30 others(34): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2950 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631700 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0213 | 1 | 365 | 0.0027 | -23 | c.-30 others(34): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2952 | chr22 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755722 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0284 | 1 | 283 | 0.0035 | -23 | c.127 others(40): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP7B_chr13_51927669_52016450 | 52014302 | TTTCTTTT others(16): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 300 | 0.0033 | -23 | c.-29 others(34): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 2853 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42441523 | CATTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0023 | 1 | 308 | 0.0032 | -23 | c.312 others(42): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25528724 | ATATGCAT others(16): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02895.hp2 |
a0001 | a0001c0006a0001c0017 | a0001c0006t0006a0001c0006t0020a0001c0017t0036 | a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0017t0036g0019 |
3 | 115 | 0.0261 | -23 | c.222 others(40): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25528754 | TACATATG others(16): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01358.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0002a0001c0001t0015a0001c0002t0029others(1): Show | a0001c0001t0002g0079 a0001c0001t0015g0016 a0001c0002t0029g0052 others(1): Show |
4 | 82 | 0.0488 | -23 | c.222 others(40): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57794996 | ATCTTATT others(16): Show |
A | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 312 | 0.0032 | -23 | c.-26 others(40): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50098266 | ATTTTTTT others(16): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0020 | 1 | 8 | 0.1250 | -23 | c.28+ others(38): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51719783 | ACGCCTAT others(16): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01175.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0008a0001c0001t0012a0001c0001t0022others(12): Show | a0001c0001t0008g0083 a0001c0001t0012g0081 a0001c0001t0022g0045 others(18): Show |
21 | 310 | 0.0677 | -23 | c.327 others(40): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79166936 | CCAGGCAT others(16): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0006a0001c0010 | a0001c0006t0004a0001c0010t0001a0001c0010t0004 | a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 others(4): Show |
7 | 296 | 0.0236 | -23 | c.779 others(40): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79246221 | AGGAGGGC others(16): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02818.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 |
3 | 244 | 0.0123 | -23 | c.110 others(42): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249897 | TAAAAAAA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0226 | 1 | 231 | 0.0043 | -23 | c.-47 others(30): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 10 | chr5 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115389588 | ATATTTCA others(16): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0029 | 1 | 126 | 0.0079 | -23 | c.317 others(42): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115877210 | GGTAGAAA others(16): Show |
G | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0011a0001c0010t0006 | a0001c0001t0011g0114 a0001c0010t0006g0090 |
2 | 126 | 0.0159 | -23 | c.401 others(44): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115940675 | CTCTCTCT others(16): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01109.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(31): Show | a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0059 others(36): Show |
39 | 126 | 0.3095 | -23 | c.401 others(42): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3621336 | TGAAGTGC others(16): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(17): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0005a0001c0001t0028a0001c0003t0005others(4): Show | a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0056 others(17): Show |
20 | 218 | 0.0917 | -23 | c.380 others(42): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00735.hp1 NA18957.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0007 | a0001c0001t0002g0105 a0001c0003t0007g0179 |
2 | 7 | 0.2857 | -23 | c.386 others(42): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(16): Show |
C | intron_variant | MODIFIER | NA18944.hp1 NA18961.hp1 NA18986.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0171 |
3 | 24 | 0.1250 | -23 | c.589 others(38): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar |