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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM184B_chr4_17624306_17786621 | 17636519 | C | CA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG01516.hp2 HG02647.hp1 others(3): Show |
a0001a0015a0030 | a0001c0017a0001c0047a0015c0063others(1): Show | a0001c0017t0010a0001c0047t0010a0015c0063t0054others(1): Show | a0001c0017t0010g0070a0001c0017t0010g0103a0001c0017t0010g0175others(3): Show | 6 | 238 | 0.0252 | 1 | c.278 others(7): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 15/17 | chr4 | TogoVar | ||||||
FAM184B_chr4_17624306_17786621 | 17664665 | G | T | splice_region_variant others(1): Show |
LOW | HG02922.hp2 | a0008 | a0008c0034 | a0008c0034t0051 | a0008c0034t0051g0010 | 1 | 238 | 0.0042 | 0 | c.159 others(6): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 7/17 | chr4 | TogoVar | ||||||
FAM186A_chr12_50322309_50401609 | 50360925 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
a0007a0028a0029 | a0007c0008a0007c0023a0028c0024others(1): Show | a0007c0008t0001a0007c0023t0001a0028c0024t0001others(1): Show | a0007c0008t0001g0088a0007c0008t0001g0246a0007c0008t0001g0247others(4): Show | 7 | 332 | 0.0211 | 0 | c.414 others(3): Show |
p.Asn others(6): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 3/8 | 539/7255 | 414/7056 | 138/2351 | chr12 | TogoVar | ||
FAM186B_chr12_49582505_49610639 | 49588455 | G | A | missense_variant others(1): Show |
MODERATE | HG00423.hp1 NA18981.hp1 NA18998.hp2 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0028a0007c0008t0001g0096 | 3 | 266 | 0.0113 | 0 | c.253 others(4): Show |
p.Arg others(6): Show |
FAM186B | ENSG00000135436.8 | transcript | ENST00000257894.2 | protein_coding | 6/7 | 2695/2944 | 2533/2682 | 845/893 | chr12 | TogoVar | ||
FAM187B_chr19_35219800_35233739 | 35225220 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02809.hp2 HG03098.hp1 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0013a0005c0007t0001g0033 | 5 | 450 | 0.0111 | 0 | c.723 others(5): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
FAM187B_chr19_35219800_35233739 | 35227960 | T | C | missense_variant others(1): Show |
MODERATE | HG02055.hp2 HG02970.hp2 HG03225.hp1 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0014 | 3 | 450 | 0.0067 | 0 | c.721 others(3): Show |
p.Arg others(6): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 780/1194 | 721/1110 | 241/369 | chr19 | TogoVar | ||
FAM193A_chr4_2531647_2737573 | 2657886 | C | T | splice_region_variant others(1): Show |
LOW | NA18906.hp2 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0118 | 1 | 330 | 0.0030 | 0 | c.138 others(6): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
FAM193A_chr4_2531647_2737573 | 2690977 | C | T | splice_region_variant others(1): Show |
LOW | HG00609.hp2 HG02559.hp2 HG02818.hp1 others(5): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0005a0006c0008t0001g0121a0006c0008t0001g0124others(5): Show | 8 | 330 | 0.0242 | 0 | c.280 others(6): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 15/20 | chr4 | TogoVar | ||||||
FAM193A_chr4_2531647_2737573 | 2699672 | A | G | splice_region_variant others(1): Show |
LOW | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 330 | 0.0030 | 0 | c.350 others(6): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
FAM204A_chr10_118292925_118347324 | 118310915 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0002g0003a0001c0001t0002g0043a0001c0001t0002g0044others(105): Show | 157 | 394 | 0.3985 | 0 | c.651 others(5): Show |
FAM204A | ENSG00000165669.14 | transcript | ENST00000369183.9 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
FAM209B_chr20_56528246_56541520 | 56536172 | G | A | missense_variant others(1): Show |
MODERATE | HG01175.hp1 HG02965.hp1 HG02970.hp1 others(5): Show |
a0005 | a0005c0007a0005c0009 | a0005c0007t0001a0005c0007t0003a0005c0009t0001 | a0005c0007t0001g0008a0005c0007t0001g0032a0005c0007t0001g0044others(4): Show | 8 | 416 | 0.0192 | 0 | c.250 others(3): Show |
p.Glu others(5): Show |
FAM209B | ENSG00000213714.1 | transcript | ENST00000371325.1 | protein_coding | 2/2 | 346/694 | 250/516 | 84/171 | chr20 | TogoVar | ||
FAM20A_chr17_68530116_68606367 | 68600260 | C | T | splice_region_variant others(1): Show |
LOW | NA18942.hp2 NA18950.hp2 NA18969.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(1): Show | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0131others(5): Show | 8 | 380 | 0.0211 | 0 | c.404 others(5): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
FAM210A_chr18_13658347_13731558 | 13671977 | CA | C | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG02818.hp2 HG03130.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0001t0023a0001c0001t0049others(2): Show | a0001c0001t0022g0015a0001c0001t0023g0138a0001c0001t0023g0139others(8): Show | 12 | 326 | 0.0368 | -1 | c.474 others(6): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | ||||||
FAM210B_chr20_56353974_56373663 | 56366068 | T | C | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00642.hp2 HG00738.hp1 others(79): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0007 | a0002c0002t0002a0002c0002t0004a0002c0002t0008others(5): Show | a0002c0002t0002g0004a0002c0002t0002g0007a0002c0002t0002g0015others(17): Show | 82 | 392 | 0.2092 | 0 | c.363 others(5): Show |
FAM210B | ENSG00000124098.10 | transcript | ENST00000371384.4 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
FAM216A_chr12_110463845_110495385 | 110485207 | A | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0183 | 2 | 310 | 0.0065 | 0 | c.306 others(5): Show |
FAM216A | ENSG00000204856.12 | transcript | ENST00000377673.10 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
FAM216B_chr13_42776584_42796549 | 42786760 | C | T | splice_region_variant others(1): Show |
LOW | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 452 | 0.0022 | 0 | c.100 others(5): Show |
FAM216B | ENSG00000179813.7 | transcript | ENST00000313851.3 | protein_coding | 2/3 | chr13 | TogoVar | ||||||
FAM217B_chr20_59935389_59953680 | 59942194 | C | T | splice_region_variant others(1): Show |
LOW | HG01358.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 376 | 0.0053 | 0 | c.-20 others(6): Show |
FAM217B | ENSG00000196227.11 | transcript | ENST00000360816.8 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
FAM217B_chr20_59935389_59953680 | 59942511 | A | G | splice_region_variant | LOW | HG01256.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0036 | a0001c0001t0035g0002a0001c0001t0036g0021 | 2 | 376 | 0.0053 | 0 | c.-6A others(2): Show |
FAM217B | ENSG00000196227.11 | transcript | ENST00000360816.8 | protein_coding | 3/4 | chr20 | TogoVar | ||||||
FAM219A_chr9_34393184_34463570 | 34402706 | T | G | splice_region_variant others(1): Show |
LOW | NA19081.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0358 | 1 | 396 | 0.0025 | 0 | c.262 others(3): Show |
p.Arg others(5): Show |
FAM219A | ENSG00000164970.15 | transcript | ENST00000651358.1 | protein_coding | 3/6 | 569/3645 | 262/558 | 88/185 | chr9 | TogoVar | ||
FAM227A_chr22_38573118_38661392 | 38626174 | T | G | splice_region_variant others(1): Show |
LOW | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0264 | 1 | 328 | 0.0031 | 0 | c.850 others(5): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 9/16 | chr22 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38628941 | A | G | splice_region_variant others(1): Show |
LOW | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0309 | 1 | 328 | 0.0031 | 0 | c.520 others(5): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 6/16 | chr22 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38650023 | A | G | splice_region_variant others(1): Show |
LOW | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 328 | 0.0031 | 0 | c.142 others(5): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 2/16 | chr22 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49367607 | G | A | missense_variant others(1): Show |
MODERATE | HG01255.hp1 HG04228.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0098a0004c0006t0001g0159 | 2 | 294 | 0.0068 | 0 | c.111 others(4): Show |
p.Ser others(6): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 13/16 | 1303/3316 | 1112/1527 | 371/508 | chr15 | TogoVar | ||
FAM227B_chr15_49321970_49625818 | 49568349 | TA | T | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG00558.hp2 HG00642.hp1 others(62): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0037others(62): Show | 65 | 294 | 0.2211 | -1 | c.646 others(6): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 8/15 | chr15 | TogoVar | ||||||
FAM228A_chr2_24170053_24196698 | 24175577 | A | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(200): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(58): Show | 203 | 346 | 0.5867 | 0 | c.93+ others(4): Show |
FAM228A | ENSG00000186453.13 | transcript | ENST00000295150.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
FAM228A_chr2_24170053_24196698 | 24177875 | G | A | splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG01099.hp2 HG01433.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0017 | 3 | 346 | 0.0087 | 0 | c.162 others(5): Show |
FAM228A | ENSG00000186453.13 | transcript | ENST00000295150.8 | protein_coding | 3/5 | chr2 | TogoVar | ||||||
FAM228A_chr2_24170053_24196698 | 24191696 | G | A | splice_region_variant | LOW | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0039 | 1 | 346 | 0.0029 | 0 | c.*10 others(5): Show |
FAM228A | ENSG00000186453.13 | transcript | ENST00000295150.8 | protein_coding | 6/6 | chr2 | TogoVar | ||||||
FAM229B_chr6_112082591_112107790 | 112097035 | C | T | splice_region_variant others(1): Show |
LOW | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 418 | 0.0024 | 0 | c.-17 others(6): Show |
FAM229B | ENSG00000203778.8 | transcript | ENST00000368656.7 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 263262 | C | T | splice_region_variant others(1): Show |
LOW | HG01099.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0192 | 1 | 408 | 0.0025 | 0 | c.972 others(3): Show |
p.Ser others(6): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 9/13 | 1148/2909 | 972/1659 | 324/552 | chr16 | TogoVar | ||
FAM234A_chr16_229821_271096 | 263407 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(177): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0077a0001c0001t0001g0354a0001c0001t0002g0126others(171): Show | 180 | 408 | 0.4412 | 0 | c.111 others(6): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 9/12 | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 264812 | C | T | splice_region_variant others(1): Show |
LOW | NA18997.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0151 | 1 | 408 | 0.0025 | 0 | c.144 others(4): Show |
p.Ala others(6): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 13/13 | 1625/2909 | 1449/1659 | 483/552 | chr16 | TogoVar | ||
FAM234B_chr12_13039381_13088449 | 13071396 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0086 | 1 | 424 | 0.0024 | 0 | c.152 others(4): Show |
p.Ser others(6): Show |
FAM234B | ENSG00000084444.14 | transcript | ENST00000197268.13 | protein_coding | 10/13 | 1547/4711 | 1524/1869 | 508/622 | chr12 | TogoVar | ||
FAM234B_chr12_13039381_13088449 | 13080627 | C | G | missense_variant others(1): Show |
MODERATE | HG00544.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0120 | 1 | 424 | 0.0024 | 0 | c.186 others(4): Show |
p.Ile others(6): Show |
FAM234B | ENSG00000084444.14 | transcript | ENST00000197268.13 | protein_coding | 13/13 | 1889/4711 | 1866/1869 | 622/622 | chr12 | TogoVar | ||
FAM240A_chr3_46607525_46631543 | 46626543 | C | G | splice_region_variant | LOW | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0152 | 1 | 438 | 0.0023 | 0 | c.*13 others(5): Show |
FAM240A | ENSG00000283473.5 | transcript | ENST00000640551.3 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
FAM241A_chr4_112140454_112200256 | 112186673 | CT | C | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG01074.hp2 HG03688.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0003g0031a0001c0001t0006g0160a0001c0001t0012g0030others(4): Show | 8 | 388 | 0.0206 | -1 | c.154 others(6): Show |
FAM241A | ENSG00000174749.6 | transcript | ENST00000309733.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAM241B_chr10_69625247_69638596 | 69631701 | C | T | splice_region_variant others(1): Show |
LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0038 | 1 | 462 | 0.0022 | 0 | c.-35 others(5): Show |
FAM241B | ENSG00000171224.9 | transcript | ENST00000373279.6 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
FAM241B_chr10_69625247_69638596 | 69631702 | A | C | splice_region_variant others(1): Show |
LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0038 | 1 | 462 | 0.0022 | 0 | c.-35 others(5): Show |
FAM241B | ENSG00000171224.9 | transcript | ENST00000373279.6 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
FAM241B_chr10_69625247_69638596 | 69631703 | A | T | splice_region_variant others(1): Show |
LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0038 | 1 | 462 | 0.0022 | 0 | c.-35 others(5): Show |
FAM241B | ENSG00000171224.9 | transcript | ENST00000373279.6 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
FAM241B_chr10_69625247_69638596 | 69631709 | G | T | splice_region_variant | LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0038 | 1 | 462 | 0.0022 | 0 | c.-35 others(3): Show |
FAM241B | ENSG00000171224.9 | transcript | ENST00000373279.6 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
FAM241B_chr10_69625247_69638596 | 69631710 | T | G | splice_region_variant | LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0038 | 1 | 462 | 0.0022 | 0 | c.-34 others(3): Show |
FAM241B | ENSG00000171224.9 | transcript | ENST00000373279.6 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
FAM24A_chr10_122905610_122918111 | 122911759 | A | G | missense_variant others(1): Show |
MODERATE | HG01978.hp1 HG02004.hp2 HG02293.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 4 | 426 | 0.0094 | 0 | c.125 others(3): Show |
p.Lys others(5): Show |
FAM24A | ENSG00000203795.3 | transcript | ENST00000368894.2 | protein_coding | 2/3 | 337/687 | 125/318 | 42/105 | chr10 | TogoVar | ||
FAM25G_chr10_47482219_47496700 | 47487414 | G | GGAAA | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(133): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0014others(27): Show | 136 | 424 | 0.3208 | 4 | c.137 others(16): Show |
FAM25G | ENSG00000189090.8 | transcript | ENST00000452267.2 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
FAM25G_chr10_47482219_47496700 | 47489582 | G | A | splice_region_variant others(1): Show |
LOW | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 424 | 0.0024 | 0 | c.136 others(5): Show |
FAM25G | ENSG00000189090.8 | transcript | ENST00000452267.2 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
FAM3A_chrX_154501171_154521232 | 154506910 | T | TG | splice_region_variant others(1): Show |
LOW | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 339 | 0.0030 | 1 | c.598 others(6): Show |
FAM3A | ENSG00000071889.17 | transcript | ENST00000447601.7 | protein_coding | 8/8 | chrX | TogoVar | ||||||
FAM3A_chrX_154501171_154521232 | 154506912 | G | A | splice_region_variant others(1): Show |
LOW | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 339 | 0.0030 | 0 | c.598 others(5): Show |
FAM3A | ENSG00000071889.17 | transcript | ENST00000447601.7 | protein_coding | 8/8 | chrX | TogoVar | ||||||
FAM3A_chrX_154501171_154521232 | 154508353 | T | TG | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0029others(40): Show | 55 | 339 | 0.1622 | 1 | c.276 others(6): Show |
FAM3A | ENSG00000071889.17 | transcript | ENST00000447601.7 | protein_coding | 4/8 | chrX | TogoVar | ||||||
FAM3B_chr21_41311801_41362727 | 41344468 | C | T | splice_region_variant others(1): Show |
LOW | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 314 | 0.0032 | 0 | c.288 others(5): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 3/7 | chr21 | TogoVar | ||||||
FAM3B_chr21_41311801_41362727 | 41345683 | C | T | splice_region_variant others(1): Show |
LOW | HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039a0002c0003t0001g0040 | 2 | 314 | 0.0064 | 0 | c.347 others(5): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 4/7 | chr21 | TogoVar | ||||||
FAM3B_chr21_41311801_41362727 | 41345735 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(230): Show | 273 | 314 | 0.8694 | 0 | c.396 others(3): Show |
p.Gly others(6): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 5/8 | 475/1317 | 396/708 | 132/235 | chr21 | TogoVar | ||
FAM3C_chr7_121343878_121401308 | 121372142 | GA | G | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG01192.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0045others(10): Show | 18 | 270 | 0.0667 | -1 | c.119 others(6): Show |
FAM3C | ENSG00000196937.11 | transcript | ENST00000359943.8 | protein_coding | 3/9 | chr7 | TogoVar |