| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1_chr2_69452997_69648739 | 69514621 | CTGT | C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(100): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0005a0002c0016others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(52): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(100): Show | 103 | 298 | 0.3456 | -3 | c.162 others(12): Show |
p.Gln others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | 2024/21157 | 1623/2886 | 541/961 | chr2 | TogoVar | ||
| ABCC11_chr16_48160773_48252539 | 48167586 | TTCACGGA others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG02293.hp1 | a0020 | a0020c0033 | a0020c0033t0001 | a0020c0033t0001g0117 | 1 | 158 | 0.0063 | -27 | c.393 others(36): Show |
p.Asp others(15): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 29/30 | 4209/5894 | 3939/4149 | 1313/1382 | chr16 | TogoVar | ||
| ABCF3_chr3_184181199_184199005 | 184189906 | AGTAAACT others(36): Show |
A | splice_donor_variant others(3): Show |
HIGH | NA18961.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0031 | 1 | 416 | 0.0024 | -43 | c.136 others(55): Show |
p.Ser others(19): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 14/21 | 1377/2446 | 1368/2130 | 456/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| ABI3BP_chr3_100744156_100998421 | 100832332 | TTTG | T | disruptive_inframe_deletion | MODERATE | HG01952.hp1 HG01975.hp1 HG02258.hp2 others(9): Show |
a0007a0008a0010others(2): Show | a0007c0014a0007c0029a0008c0016others(4): Show | a0007c0014t0002a0007c0014t0009a0007c0014t0016others(7): Show | a0007c0014t0002g0034a0007c0014t0009g0204a0007c0014t0016g0167others(9): Show | 12 | 238 | 0.0504 | -3 | c.233 others(12): Show |
p.Thr others(6): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 31/68 | 2369/6737 | 2330/5361 | 777/1786 | chr3 | TogoVar | ||
| ACAN_chr15_88798436_88880353 | 88855709 | ACTGCCCC others(563): Show |
A | disruptive_inframe_deletion | MODERATE | HG02109.hp2 HG02615.hp1 HG02809.hp2 others(1): Show |
a0017 | a0017c0012 | a0017c0012t0001 | a0017c0012t0001g0145a0017c0012t0001g0146a0017c0012t0001g0318others(1): Show | 4 | 368 | 0.0109 | -570 | c.318 others(9): Show |
p.Thr others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3561/8960 | 3180/7707 | 1060/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855709 | ACTGCCCC others(734): Show |
A | disruptive_inframe_deletion | MODERATE | HG02717.hp2 | a0085 | a0085c0112 | a0085c0112t0001 | a0085c0112t0001g0160 | 1 | 368 | 0.0027 | -741 | c.318 others(9): Show |
p.Thr others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3561/8960 | 3180/7707 | 1060/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855766 | ACTGCCCC others(449): Show |
A | disruptive_inframe_deletion | MODERATE | HG04184.hp2 | a0143 | a0143c0189 | a0143c0189t0001 | a0143c0189t0001g0121 | 1 | 368 | 0.0027 | -456 | c.323 others(9): Show |
p.Thr others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3618/8960 | 3237/7707 | 1079/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855795 | GCTTCCTT others(1190): Show |
G | disruptive_inframe_deletion | MODERATE | HG02109.hp1 | a0140 | a0140c0059 | a0140c0059t0005 | a0140c0059t0005g0298 | 1 | 368 | 0.0027 | -1197 | c.322 others(9): Show |
p.Glu others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3605/8960 | 3224/7707 | 1075/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(50): Show |
A | disruptive_inframe_deletion | MODERATE | NA18940.hp2 NA18955.hp1 NA19080.hp2 others(1): Show |
a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0186a0014c0016t0001g0187a0014c0016t0001g0188others(1): Show | 4 | 368 | 0.0109 | -57 | c.363 others(66): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4017/8960 | 3636/7707 | 1212/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(107): Show |
A | disruptive_inframe_deletion | MODERATE | HG01192.hp2 HG03041.hp1 |
a0082a0138 | a0082c0116a0138c0057 | a0082c0116t0001a0138c0057t0001 | a0082c0116t0001g0140a0138c0057t0001g0290 | 2 | 368 | 0.0054 | -114 | c.357 others(9): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3960/8960 | 3579/7707 | 1193/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(164): Show |
A | disruptive_inframe_deletion | MODERATE | HG01884.hp1 HG02280.hp1 HG02647.hp1 others(1): Show |
a0050a0068a0136 | a0050c0065a0050c0066a0068c0134others(1): Show | a0050c0065t0001a0050c0066t0001a0068c0134t0013others(1): Show | a0050c0065t0001g0007a0050c0066t0001g0163a0068c0134t0013g0280others(1): Show | 4 | 368 | 0.0109 | -171 | c.352 others(9): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3903/8960 | 3522/7707 | 1174/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(221): Show |
A | disruptive_inframe_deletion | MODERATE | HG02055.hp1 HG02257.hp2 HG02451.hp2 others(10): Show |
a0030a0040a0057others(7): Show | a0030c0056a0030c0174a0040c0041others(8): Show | a0030c0056t0001a0030c0174t0010a0040c0041t0001others(8): Show | a0030c0056t0001g0201a0030c0056t0001g0258a0030c0174t0010g0165others(10): Show | 13 | 368 | 0.0353 | -228 | c.346 others(9): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3846/8960 | 3465/7707 | 1155/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(278): Show |
A | disruptive_inframe_deletion | MODERATE | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(15): Show |
a0010a0028a0029others(3): Show | a0010c0009a0028c0024a0029c0175others(5): Show | a0010c0009t0001a0010c0009t0002a0028c0024t0001others(6): Show | a0010c0009t0001g0004a0010c0009t0001g0262a0010c0009t0001g0323others(14): Show | 18 | 368 | 0.0489 | -285 | c.340 others(9): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3789/8960 | 3408/7707 | 1136/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(335): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG01243.hp1 HG02055.hp2 others(11): Show |
a0032a0033a0041others(6): Show | a0032c0182a0032c0184a0032c0191others(10): Show | a0032c0182t0001a0032c0184t0001a0032c0191t0001others(11): Show | a0032c0182t0001g0148a0032c0184t0001g0358a0032c0191t0001g0243others(11): Show | 14 | 368 | 0.0380 | -342 | c.335 others(9): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3732/8960 | 3351/7707 | 1117/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(392): Show |
A | disruptive_inframe_deletion | MODERATE | HG03579.hp2 NA19043.hp1 |
a0065a0086 | a0065c0069a0086c0110 | a0065c0069t0001a0086c0110t0001 | a0065c0069t0001g0156a0086c0110t0001g0190 | 2 | 368 | 0.0054 | -399 | c.329 others(9): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3675/8960 | 3294/7707 | 1098/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88856735 | GCTGCCCC others(50): Show |
G | disruptive_inframe_deletion | MODERATE | HG01123.hp1 HG01346.hp2 HG01517.hp2 others(7): Show |
a0024a0043a0054others(4): Show | a0024c0022a0043c0033a0054c0076others(4): Show | a0024c0022t0001a0043c0033t0001a0043c0033t0002others(5): Show | a0024c0022t0001g0041a0024c0022t0001g0112a0024c0022t0001g0249others(7): Show | 10 | 368 | 0.0272 | -57 | c.417 others(66): Show |
p.Asp others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4551/8960 | 4170/7707 | 1390/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88856735 | GCTGCCCC others(107): Show |
G | disruptive_inframe_deletion | MODERATE | HG02723.hp2 | a0139 | a0139c0058 | a0139c0058t0001 | a0139c0058t0001g0245 | 1 | 368 | 0.0027 | -114 | c.416 others(9): Show |
p.Glu others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4548/8960 | 4167/7707 | 1389/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88856755 | CATCAGCG others(50): Show |
C | disruptive_inframe_deletion | MODERATE | HG01361.hp2 HG02602.hp2 HG02630.hp1 |
a0081a0101a0115 | a0081c0118a0101c0147a0115c0178 | a0081c0118t0001a0101c0147t0001a0115c0178t0001 | a0081c0118t0001g0274a0101c0147t0001g0270a0115c0178t0001g0286 | 3 | 368 | 0.0082 | -57 | c.422 others(66): Show |
p.Glu others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4605/8960 | 4224/7707 | 1408/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACIN1_chr14_23053564_23100136 | 23080669 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(59): Show |
a0003a0006a0007others(5): Show | a0003c0004a0003c0021a0006c0009others(8): Show | a0003c0004t0001a0003c0021t0005a0006c0009t0001others(9): Show | a0003c0004t0001g0002a0003c0004t0001g0006a0003c0004t0001g0010others(51): Show | 62 | 350 | 0.1771 | -3 | c.663 others(10): Show |
p.Glu others(6): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 6/19 | 689/4460 | 663/3852 | 221/1283 | chr14 | TogoVar | ||
| ACR_chr22_50733204_50750339 | 50745023 | TACCCCC | T | disruptive_inframe_deletion | MODERATE | HG00544.hp2 HG00558.hp2 NA18943.hp1 others(1): Show |
a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0001a0006c0004t0001g0005a0006c0004t0001g0012others(1): Show | 4 | 464 | 0.0086 | -6 | c.110 others(15): Show |
p.Pro others(13): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1136/1430 | 1104/1266 | 368/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| ADAMTS19_chr5_129455298_129743683 | 129461451 | GCCGCCGC others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02280.hp1 | a0011 | a0011c0013 | a0011c0013t0002 | a0011c0013t0002g0049 | 1 | 226 | 0.0044 | -12 | c.446 others(19): Show |
p.Pro others(13): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 540/5201 | 446/3642 | 149/1213 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| ADAMTS8_chr11_130399923_130433609 | 130428222 | GGCA | G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(194): Show |
a0001a0004a0007others(8): Show | a0001c0001a0001c0025a0001c0027others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(122): Show | 197 | 424 | 0.4646 | -3 | c.62_ others(8): Show |
p.Leu others(5): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/9 | 387/3628 | 62/2670 | 21/889 | chr11 | TogoVar | ||
| ADAMTSL3_chr15_83649123_84044842 | 83982688 | CAGCGAAG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG02145.hp2 HG02257.hp2 |
a0018 | a0018c0021 | a0018c0021t0001 | a0018c0021t0001g0079a0018c0021t0001g0080 | 2 | 274 | 0.0073 | -12 | c.306 others(21): Show |
p.Glu others(15): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 21/30 | 3250/7299 | 3063/5076 | 1021/1691 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ADGRA1_chr10_133082924_133136675 | 133128642 | TTCGGGGC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | NA19009.hp2 | a0010 | a0010c0026 | a0010c0026t0023 | a0010c0026t0023g0109 | 1 | 368 | 0.0027 | -12 | c.815 others(19): Show |
p.Phe others(19): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 7/7 | 1232/4264 | 815/1683 | 272/560 | chr10 | TogoVar | ||
| ADM2_chr22_50476543_50491437 | 50482719 | AACACTCG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(71): Show |
a0002a0004 | a0002c0002a0002c0005a0004c0009 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(21): Show | a0002c0002t0001g0001a0002c0002t0003g0001a0002c0002t0004g0001others(21): Show | 74 | 446 | 0.1659 | -18 | c.279 others(25): Show |
p.Arg others(11): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 3/3 | 511/4213 | 279/447 | 93/148 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| ADM2_chr22_50476543_50491437 | 50482725 | CGGGCCCC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | NA18962.hp1 | a0006 | a0006c0006 | a0006c0006t0012 | a0006c0006t0012g0001 | 1 | 446 | 0.0022 | -15 | c.270 others(22): Show |
p.Gly others(11): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 3/3 | 502/4213 | 270/447 | 90/148 | chr22 | TogoVar | ||
| ADPRHL1_chr13_113394611_113458488 | 113404036 | TGAGCCCG others(29): Show |
T | disruptive_inframe_deletion | MODERATE | HG03209.hp1 HG03239.hp1 NA18983.hp2 |
a0005a0019a0042 | a0005c0053a0019c0028a0042c0059 | a0005c0053t0001a0019c0028t0041a0042c0059t0001 | a0005c0053t0001g0156a0019c0028t0041g0260a0042c0059t0001g0182 | 3 | 262 | 0.0115 | -36 | c.521 others(45): Show |
p.Arg others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5296/9722 | 5210/5904 | 1737/1967 | chr13 | TogoVar | ||
| ADPRHL1_chr13_113394611_113458488 | 113404080 | TTCCTGAG others(65): Show |
T | disruptive_inframe_deletion | MODERATE | HG00423.hp2 HG01358.hp2 HG02055.hp2 others(5): Show |
a0008a0013a0014others(1): Show | a0008c0013a0013c0016a0014c0048others(2): Show | a0008c0013t0035a0008c0013t0036a0008c0013t0039others(4): Show | a0008c0013t0035g0078a0008c0013t0036g0015a0008c0013t0039g0069others(5): Show | 8 | 262 | 0.0305 | -72 | c.513 others(81): Show |
p.Arg others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5252/9722 | 5130/5904 | 1710/1967 | chr13 | TogoVar | ||
| ADPRHL1_chr13_113394611_113458488 | 113404116 | TTCCTGAG others(29): Show |
T | disruptive_inframe_deletion | MODERATE | HG02258.hp1 | a0012 | a0012c0044 | a0012c0044t0048 | a0012c0044t0048g0160 | 1 | 262 | 0.0038 | -36 | c.513 others(45): Show |
p.Arg others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5216/9722 | 5130/5904 | 1710/1967 | chr13 | TogoVar | ||
| ADPRHL1_chr13_113394611_113458488 | 113404152 | CTCCTGAG others(29): Show |
C | disruptive_inframe_deletion | MODERATE | HG02129.hp2 NA18950.hp2 NA18966.hp1 others(6): Show |
a0005a0024a0052 | a0005c0006a0005c0017a0024c0056others(1): Show | a0005c0006t0004a0005c0017t0004a0005c0017t0047others(2): Show | a0005c0006t0004g0093a0005c0006t0004g0178a0005c0006t0004g0180others(6): Show | 9 | 262 | 0.0344 | -36 | c.509 others(45): Show |
p.Arg others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5180/9722 | 5094/5904 | 1698/1967 | chr13 | TogoVar | ||
| ADPRHL1_chr13_113394611_113458488 | 113404236 | TTTCTGGG others(29): Show |
T | disruptive_inframe_deletion | MODERATE | HG03704.hp2 | a0012 | a0012c0042 | a0012c0042t0015 | a0012c0042t0015g0034 | 1 | 262 | 0.0038 | -36 | c.501 others(45): Show |
p.Gly others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5096/9722 | 5010/5904 | 1670/1967 | chr13 | TogoVar | ||
| ADPRHL1_chr13_113394611_113458488 | 113404570 | GGTTCCTG others(137): Show |
G | disruptive_inframe_deletion | MODERATE | HG00621.hp1 | a0020 | a0020c0057 | a0020c0057t0001 | a0020c0057t0001g0016 | 1 | 262 | 0.0038 | -144 | c.456 others(9): Show |
p.Gln others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 4762/9722 | 4568/5904 | 1523/1967 | chr13 | TogoVar | ||
| ADRA2B_chr2_96107876_96121571 | 96115238 | CTCCTCCT others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(119): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0008others(6): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0008g0000others(6): Show | 122 | 390 | 0.3128 | -9 | c.903 others(16): Show |
p.Glu others(13): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1/1 | 1333/3696 | 903/1353 | 301/450 | chr2 | TogoVar | ||
| ADRA2C_chr4_3761385_3773526 | 3767481 | CCGAGAGG others(59): Show |
C | disruptive_inframe_deletion | MODERATE | HG03041.hp2 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0000 | 1 | 420 | 0.0024 | -66 | c.878 others(73): Show |
p.Glu others(13): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 1100/2142 | 878/1389 | 293/462 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| ADRA2C_chr4_3761385_3773526 | 3767568 | AGGGGGCG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG00673.hp1 HG01081.hp2 others(65): Show |
a0002a0003a0004others(3): Show | a0002c0003a0002c0015a0003c0006others(4): Show | a0002c0003t0002a0002c0003t0006a0002c0003t0007others(7): Show | a0002c0003t0002g0000a0002c0003t0006g0000a0002c0003t0007g0000others(7): Show | 68 | 420 | 0.1619 | -12 | c.971 others(19): Show |
p.Gly others(13): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 1193/2142 | 971/1389 | 324/462 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| AEBP1_chr7_44099345_44119560 | 44114097 | GTGGAGCC others(17): Show |
G | disruptive_inframe_deletion | MODERATE | HG03704.hp2 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0002 | 1 | 426 | 0.0024 | -24 | c.332 others(33): Show |
p.Glu others(15): Show |
AEBP1 | ENSG00000106624.11 | transcript | ENST00000223357.8 | protein_coding | 21/21 | 3642/4097 | 3321/3477 | 1107/1158 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AHDC1_chr1_27529245_27609144 | 27549006 | AAGG | A | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG02109.hp2 HG02451.hp1 others(8): Show |
a0003a0004 | a0003c0004a0003c0009a0004c0010 | a0003c0004t0001a0003c0004t0002a0003c0004t0006others(4): Show | a0003c0004t0001g0054a0003c0004t0001g0107a0003c0004t0002g0074others(8): Show | 11 | 180 | 0.0611 | -3 | c.310 others(12): Show |
p.Ser others(7): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/9 | 4010/6428 | 3107/4812 | 1036/1603 | chr1 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104942038 | TGGCATCT others(488): Show |
T | disruptive_inframe_deletion | MODERATE | HG02717.hp1 | a0073 | a0073c0171 | a0073c0171t0002 | a0073c0171t0002g0140 | 1 | 356 | 0.0028 | -495 | c.129 others(11): Show |
p.Ser others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13549/18335 | 12918/17388 | 4306/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104943691 | CACCTTGG others(983): Show |
C | disruptive_inframe_deletion | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | -990 | c.107 others(11): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11896/18335 | 10770/17388 | 3590/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104944681 | TGCCTTGG others(1973): Show |
T | disruptive_inframe_deletion | MODERATE | HG02273.hp2 | a0170 | a0170c0105 | a0170c0105t0002 | a0170c0105t0002g0076 | 1 | 356 | 0.0028 | -1980 | c.879 others(10): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10906/18335 | 8790/17388 | 2930/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104945398 | GAGGTCCC others(983): Show |
G | disruptive_inframe_deletion | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | -990 | c.906 others(10): Show |
p.Lys others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10189/18335 | 9063/17388 | 3021/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104945515 | TTTGGGCA others(488): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(67): Show |
a0001a0011a0021others(34): Show | a0001c0001a0001c0003a0001c0045others(42): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(42): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(51): Show | 70 | 356 | 0.1966 | -495 | c.944 others(9): Show |
p.Phe others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10072/18335 | 9441/17388 | 3147/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104946949 | GGCCTCGA others(488): Show |
G | disruptive_inframe_deletion | MODERATE | HG02055.hp1 HG03139.hp2 |
a0037 | a0037c0029 | a0037c0029t0001 | a0037c0029t0001g0079a0037c0029t0001g0294 | 2 | 356 | 0.0056 | -495 | c.800 others(9): Show |
p.Leu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8638/18335 | 8007/17388 | 2669/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104947036 | GCCCTTGT others(488): Show |
G | disruptive_inframe_deletion | MODERATE | HG02965.hp2 | a0150 | a0150c0082 | a0150c0082t0001 | a0150c0082t0001g0088 | 1 | 356 | 0.0028 | -495 | c.792 others(9): Show |
p.Val others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8551/18335 | 7920/17388 | 2640/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104947643 | GTCACTTC others(488): Show |
G | disruptive_inframe_deletion | MODERATE | HG03130.hp2 HG06807.hp1 |
a0063a0159 | a0063c0168a0159c0141 | a0063c0168t0001a0159c0141t0001 | a0063c0168t0001g0248a0159c0141t0001g0108 | 2 | 356 | 0.0056 | -495 | c.731 others(9): Show |
p.Met others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7944/18335 | 7313/17388 | 2438/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104947714 | CATTTCAG others(488): Show |
C | disruptive_inframe_deletion | MODERATE | HG03516.hp1 | a0146 | a0146c0090 | a0146c0090t0001 | a0146c0090t0001g0113 | 1 | 356 | 0.0028 | -495 | c.724 others(9): Show |
p.Asp others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7873/18335 | 7242/17388 | 2414/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104948332 | AGCGGAAG others(488): Show |
A | disruptive_inframe_deletion | MODERATE | NA18999.hp2 | a0173 | a0173c0114 | a0173c0114t0002 | a0173c0114t0002g0288 | 1 | 356 | 0.0028 | -495 | c.662 others(9): Show |
p.Asp others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7255/18335 | 6624/17388 | 2208/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104948404 | CTCCACCT others(1973): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 | a0120 | a0120c0214 | a0120c0214t0002 | a0120c0214t0002g0062 | 1 | 356 | 0.0028 | -1980 | c.506 others(9): Show |
p.Ala others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7183/18335 | 5067/17388 | 1689/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104948656 | TAGGTCCA others(3458): Show |
T | disruptive_inframe_deletion | MODERATE | NA19065.hp2 | a0106 | a0106c0070 | a0106c0070t0001 | a0106c0070t0001g0184 | 1 | 356 | 0.0028 | -3465 | c.333 others(9): Show |
p.Lys others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6931/18335 | 3330/17388 | 1110/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104948665 | CTTGGGGC others(488): Show |
C | disruptive_inframe_deletion | MODERATE | HG00673.hp1 | a0181 | a0181c0060 | a0181c0060t0001 | a0181c0060t0001g0272 | 1 | 356 | 0.0028 | -495 | c.629 others(9): Show |
p.Leu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6922/18335 | 6291/17388 | 2097/5795 | chr14 | TogoVar |