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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD30BL_chr2_132142591_132166952 | 132154767 | G | A | missense_variant others(1): Show |
MODERATE | NA18956.hp1 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0151 | 1 | 406 | 0.0025 | 0 | c.509 others(3): Show |
p.Ala others(6): Show |
ANKRD30BL | ENSG00000163046.16 | transcript | ENST00000409867.6 | protein_coding | 4/6 | 756/1564 | 509/777 | 170/258 | chr2 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14764088 | A | G | missense_variant others(1): Show |
MODERATE | HG02622.hp1 | a0043 | a0043c0039 | a0043c0039t0009 | a0043c0039t0009g0230 | 1 | 316 | 0.0032 | 0 | c.122 others(4): Show |
p.Asn others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 7/44 | 1471/5335 | 1223/4578 | 408/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14796215 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(187): Show |
a0001a0004a0007others(23): Show | a0001c0001a0001c0003a0001c0011others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(183): Show | 190 | 316 | 0.6013 | 0 | c.182 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/43 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14796335 | C | A | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02615.hp1 HG02630.hp2 others(3): Show |
a0008a0023a0031 | a0008c0010a0023c0043a0031c0047 | a0008c0010t0001a0008c0010t0008a0023c0043t0001others(1): Show | a0008c0010t0001g0261a0008c0010t0001g0262a0008c0010t0008g0006others(3): Show | 6 | 316 | 0.0190 | 0 | c.185 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 17/43 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14808543 | T | A | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02486.hp2 HG02572.hp2 others(4): Show |
a0004 | a0004c0007a0004c0022a0004c0045 | a0004c0007t0001a0004c0022t0001a0004c0045t0010 | a0004c0007t0001g0005a0004c0007t0001g0299a0004c0007t0001g0309others(3): Show | 7 | 316 | 0.0222 | 0 | c.228 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 24/43 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14808748 | A | C | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02615.hp1 HG02630.hp2 others(3): Show |
a0008a0021a0023 | a0008c0010a0021c0042a0023c0043 | a0008c0010t0001a0008c0010t0008a0021c0042t0005others(1): Show | a0008c0010t0001g0261a0008c0010t0001g0262a0008c0010t0008g0006others(3): Show | 6 | 316 | 0.0190 | 0 | c.238 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 26/43 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14810179 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG01243.hp2 |
a0001 | a0001c0036a0001c0059 | a0001c0036t0002a0001c0059t0002 | a0001c0036t0002g0192a0001c0059t0002g0050 | 2 | 316 | 0.0063 | 0 | c.248 others(4): Show |
p.Ala others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 28/44 | 2735/5335 | 2487/4578 | 829/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14828275 | T | C | splice_region_variant others(1): Show |
LOW | HG02083.hp1 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282a0001c0001t0003g0283 | 2 | 316 | 0.0063 | 0 | c.274 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 32/43 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14843024 | C | G | missense_variant others(1): Show |
MODERATE | HG01515.hp1 | a0039 | a0039c0056 | a0039c0056t0001 | a0039c0056t0001g0257 | 1 | 316 | 0.0032 | 0 | c.310 others(4): Show |
p.Pro others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 39/44 | 3357/5335 | 3109/4578 | 1037/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14848936 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(165): Show |
a0001a0007a0012others(15): Show | a0001c0001a0001c0003a0001c0011others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(162): Show | 168 | 316 | 0.5317 | 0 | c.339 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 40/43 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14853801 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02258.hp2 HG02818.hp2 others(4): Show |
a0007a0014a0030 | a0007c0009a0014c0018a0030c0062 | a0007c0009t0007a0014c0018t0005a0030c0062t0001 | a0007c0009t0007g0128a0007c0009t0007g0129a0007c0009t0007g0226others(4): Show | 7 | 316 | 0.0222 | 0 | c.447 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 42/43 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14854178 | CT | C | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02572.hp2 HG02615.hp1 others(6): Show |
a0001a0004a0008others(2): Show | a0001c0001a0004c0022a0004c0045others(3): Show | a0001c0001t0002a0004c0022t0001a0004c0045t0010others(4): Show | a0001c0001t0002g0069a0004c0022t0001g0301a0004c0045t0010g0089others(6): Show | 9 | 316 | 0.0285 | -1 | c.*34 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 43/43 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ANKRD31_chr5_75063297_75241878 | 75091256 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG03540.hp1 NA20300.hp2 |
a0004 | a0004c0009a0004c0021 | a0004c0009t0001a0004c0021t0001 | a0004c0009t0001g0318a0004c0009t0001g0319a0004c0021t0001g0317 | 3 | 334 | 0.0090 | 0 | c.547 others(6): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 23/25 | chr5 | TogoVar | ||||||
ANKRD31_chr5_75063297_75241878 | 75222356 | T | C | missense_variant others(1): Show |
MODERATE | HG00735.hp2 HG01081.hp1 HG01891.hp1 others(9): Show |
a0008a0030 | a0008c0008a0030c0036 | a0008c0008t0001a0008c0008t0010a0030c0036t0001 | a0008c0008t0001g0172a0008c0008t0001g0173a0008c0008t0001g0174others(9): Show | 12 | 334 | 0.0359 | 0 | c.181 others(3): Show |
p.Met others(5): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 3/26 | 373/6207 | 181/5793 | 61/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75230559 | C | T | splice_region_variant others(1): Show |
LOW | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 334 | 0.0030 | 0 | c.178 others(5): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10618460 | C | T | missense_variant others(1): Show |
MODERATE | NA18950.hp1 | a0010 | a0010c0036 | a0010c0036t0001 | a0010c0036t0001g0047 | 1 | 324 | 0.0031 | 0 | c.494 others(3): Show |
p.Ala others(6): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 2/4 | 892/9586 | 494/1485 | 165/494 | chr5 | TogoVar | ||
ANKRD33_chr12_51883103_51896727 | 51889489 | G | A | splice_region_variant others(1): Show |
LOW | HG01168.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0017 | 1 | 450 | 0.0022 | 0 | c.637 others(5): Show |
ANKRD33 | ENSG00000167612.13 | transcript | ENST00000301190.11 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ANKRD34B_chr5_80551755_80575280 | 80568953 | G | GAGAGAGA others(4): Show |
splice_region_variant others(1): Show |
LOW | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 392 | 0.0026 | 11 | c.-19 others(24): Show |
ANKRD34B | ENSG00000189127.8 | transcript | ENST00000338682.8 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
ANKRD35_chr1_145861564_145890866 | 145879253 | C | T | splice_region_variant others(1): Show |
LOW | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 400 | 0.0025 | 0 | c.170 others(5): Show |
ANKRD35 | ENSG00000198483.13 | transcript | ENST00000355594.9 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95867436 | C | T | splice_region_variant others(1): Show |
LOW | HG03492.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0106 | 1 | 298 | 0.0034 | 0 | c.470 others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 80/87 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95884167 | A | T | splice_region_variant others(1): Show |
LOW | NA20805.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0074 | 1 | 298 | 0.0034 | 0 | c.428 others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 74/87 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95903048 | A | T | splice_region_variant others(1): Show |
LOW | NA19058.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018 | 1 | 298 | 0.0034 | 0 | c.319 others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 53/87 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95904840 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 | a0033 | a0033c0047 | a0033c0047t0001 | a0033c0047t0001g0280 | 1 | 298 | 0.0034 | 0 | c.309 others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 51/87 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95906626 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 | a0033 | a0033c0047 | a0033c0047t0001 | a0033c0047t0001g0280 | 1 | 298 | 0.0034 | 0 | c.306 others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 50/87 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95906788 | T | C | splice_region_variant others(1): Show |
LOW | HG01891.hp2 | a0033 | a0033c0047 | a0033c0047t0001 | a0033c0047t0001g0280 | 1 | 298 | 0.0034 | 0 | c.298 others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 49/87 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95923495 | C | T | missense_variant others(1): Show |
MODERATE | NA19001.hp1 | a0025 | a0025c0034 | a0025c0034t0001 | a0025c0034t0001g0232 | 1 | 298 | 0.0034 | 0 | c.214 others(4): Show |
p.Val others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 32/88 | 2259/7501 | 2143/6360 | 715/2119 | chr2 | TogoVar | ||
ANKRD36C_chr2_95844548_95996824 | 95948596 | C | T | splice_region_variant others(1): Show |
LOW | NA18948.hp2 | a0003 | a0003c0032 | a0003c0032t0001 | a0003c0032t0001g0100 | 1 | 298 | 0.0034 | 0 | c.129 others(4): Show |
p.Arg others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 17/88 | 1412/7501 | 1296/6360 | 432/2119 | chr2 | TogoVar | ||
ANKRD36C_chr2_95844548_95996824 | 95960544 | C | T | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(293): Show |
a0001a0002a0003others(40): Show | a0001c0002a0001c0005a0001c0006others(62): Show | a0001c0002t0001a0001c0005t0001a0001c0006t0001others(62): Show | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0009others(289): Show | 296 | 298 | 0.9933 | 0 | c.932 others(3): Show |
p.Gly others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 10/88 | 1048/7501 | 932/6360 | 311/2119 | chr2 | TogoVar | ||
ANKRD36C_chr2_95844548_95996824 | 95986753 | C | T | missense_variant others(1): Show |
MODERATE | HG02523.hp1 | a0044 | a0044c0030 | a0044c0030t0001 | a0044c0030t0001g0038 | 1 | 298 | 0.0034 | 0 | c.484 others(3): Show |
p.Glu others(6): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 3/88 | 600/7501 | 484/6360 | 162/2119 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97118182 | T | C | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG02572.hp1 |
a0002a0025 | a0002c0002a0025c0057 | a0002c0002t0002a0025c0057t0001 | a0002c0002t0002g0031a0025c0057t0001g0134 | 2 | 212 | 0.0094 | 0 | c.312 others(5): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 2/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97147001 | TTAAACCA others(3856): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19056.hp2 | a0019 | a0019c0032 | a0019c0032t0007 | a0019c0032t0007g0127 | 1 | 212 | 0.0047 | -3863 | c.103 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 12/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97147002 | TAAACCAT others(3855): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19079.hp2 | a0019 | a0019c0031 | a0019c0031t0007 | a0019c0031t0007g0126 | 1 | 212 | 0.0047 | -3862 | c.103 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 12/76 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97162081 | C | CT | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(53): Show |
a0003a0006a0007others(9): Show | a0003c0003a0006c0008a0006c0034others(10): Show | a0003c0003t0001a0006c0008t0001a0006c0008t0009others(11): Show | a0003c0003t0001g0133a0003c0003t0001g0135a0003c0003t0001g0142others(53): Show | 56 | 212 | 0.2642 | 1 | c.139 others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 17/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97162145 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02559.hp1 HG02717.hp1 others(4): Show |
a0012a0024a0047 | a0012c0010a0024c0060a0047c0033 | a0012c0010t0002a0024c0060t0002a0047c0033t0002 | a0012c0010t0002g0026a0012c0010t0002g0027a0012c0010t0002g0028others(4): Show | 7 | 212 | 0.0330 | 0 | c.142 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 18/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97167604 | C | T | missense_variant others(1): Show |
MODERATE | HG02145.hp1 | a0030 | a0030c0052 | a0030c0052t0002 | a0030c0052t0002g0128 | 1 | 212 | 0.0047 | 0 | c.155 others(4): Show |
p.Thr others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 21/76 | 2146/6534 | 1559/5748 | 520/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97189215 | A | C | splice_region_variant others(1): Show |
LOW | NA18941.hp2 | a0052 | a0052c0026 | a0052c0026t0003 | a0052c0026t0003g0193 | 1 | 212 | 0.0047 | 0 | c.217 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97191012 | T | G | splice_region_variant others(1): Show |
LOW | NA18941.hp2 | a0052 | a0052c0026 | a0052c0026t0003 | a0052c0026t0003g0193 | 1 | 212 | 0.0047 | 0 | c.227 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 35/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97192851 | T | G | splice_region_variant others(1): Show |
LOW | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 212 | 0.0047 | 0 | c.234 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 36/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97192891 | T | C | splice_region_variant others(1): Show |
LOW | NA18941.hp2 | a0052 | a0052c0026 | a0052c0026t0003 | a0052c0026t0003g0193 | 1 | 212 | 0.0047 | 0 | c.237 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 37/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97198578 | C | G | splice_region_variant others(1): Show |
LOW | HG03486.hp1 | a0047 | a0047c0033 | a0047c0033t0002 | a0047c0033t0002g0025 | 1 | 212 | 0.0047 | 0 | c.268 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 43/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97200454 | C | T | missense_variant others(1): Show |
MODERATE | HG04228.hp1 | a0045 | a0045c0049 | a0045c0049t0001 | a0045c0049t0001g0120 | 1 | 212 | 0.0047 | 0 | c.278 others(4): Show |
p.Ala others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 46/76 | 3373/6534 | 2786/5748 | 929/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97202237 | A | G | splice_region_variant others(1): Show |
LOW | HG03688.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0149 | 1 | 212 | 0.0047 | 0 | c.288 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 47/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97204185 | A | G | splice_region_variant others(1): Show |
LOW | NA19070.hp2 | a0050 | a0050c0061 | a0050c0061t0001 | a0050c0061t0001g0010 | 1 | 212 | 0.0047 | 0 | c.298 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 49/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97211662 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(127): Show |
a0002a0003a0004others(28): Show | a0002c0002a0003c0003a0004c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(35): Show | a0002c0002t0001g0017a0002c0002t0001g0052a0002c0002t0001g0053others(127): Show | 130 | 212 | 0.6132 | 0 | c.339 others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 57/75 | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97211741 | G | A | missense_variant others(1): Show |
MODERATE | HG02809.hp2 HG02895.hp1 |
a0021 | a0021c0021 | a0021c0021t0002 | a0021c0021t0002g0012a0021c0021t0002g0013 | 2 | 212 | 0.0094 | 0 | c.346 others(4): Show |
p.Val others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 58/76 | 4056/6534 | 3469/5748 | 1157/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97264169 | TAGCATTG others(84): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0046a0002c0002others(20): Show | a0001c0001t0002a0001c0046t0002a0002c0002t0002others(22): Show | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022others(64): Show | 67 | 212 | 0.3160 | -91 | c.*7- others(100): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 76/76 | 14097 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ANKRD40CL_chr17_50756030_50772518 | 50766754 | GCAGAGTG others(368): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0008 | a0002c0002t0007g0023a0002c0002t0007g0030a0002c0002t0007g0031others(2): Show | 9 | 456 | 0.0197 | -375 | c.-98 others(14): Show |
ANKRD40CL | ENSG00000167117.10 | transcript | ENST00000450727.6 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
ANKRD40CL_chr17_50756030_50772518 | 50767457 | C | T | splice_region_variant others(1): Show |
LOW | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 456 | 0.0022 | 0 | c.-99 others(5): Show |
ANKRD40CL | ENSG00000167117.10 | transcript | ENST00000450727.6 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
ANKRD42_chr11_83188712_83253971 | 83198475 | A | G | splice_region_variant others(1): Show |
LOW | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 350 | 0.0029 | 0 | c.59- others(4): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
ANKRD42_chr11_83188712_83253971 | 83198647 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 350 | 0.0029 | 0 | c.222 others(5): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 2/10 | chr11 | TogoVar |