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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA10_chr17_69143007_69233824 | 69154324 | C | CACCTGGA others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0005a0006a0007 | a0005c0005a0006c0007a0006c0016others(1): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(4): Show | a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(32): Show |
36 | 346 | 0.1040 | 8 | c.369 others(19): Show |
p.Glu others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/39 | 4252/6008 | 3696/4632 | 1232/1543 | chr17 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69193976 | AAT | A | frameshift_variant | HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show |
a0005a0006a0007others(1): Show | a0005c0005a0006c0007a0006c0016others(2): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(5): Show | a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(33): Show |
37 | 346 | 0.1069 | -2 | c.135 others(11): Show |
p.Ile others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 13/39 | 1914/6008 | 1357/4632 | 453/1543 | chr17 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69215890 | A | T | stop_gained | HIGH | HG01099.hp2 HG02055.hp1 HG02486.hp2 others(15): Show |
a0005 | a0005c0005a0005c0013a0005c0014 | a0005c0005t0004a0005c0005t0015a0005c0013t0001others(1): Show | a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(15): Show |
18 | 206 | 0.0874 | 0 | c.783 others(3): Show |
p.Tyr others(4): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 8/39 | 1339/6008 | 783/4632 | 261/1543 | chr17 | TogoVar | |||
AGAP6_chr10_49983406_50015499 | 49988921 | AC | A | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00733.hp1 others(17): Show |
a0004 | a0004c0004a0004c0026a0004c0027 | a0004c0004t0004a0004c0026t0004a0004c0027t0011 | a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0040 others(8): Show |
20 | 404 | 0.0495 | -1 | c.208 others(4): Show |
p.Arg others(4): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 518/2684 | 208/2061 | 70/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
AIM2_chr1_159057484_159081766 | 159062694 | A | C | stop_lost | HIGH | HG02258.hp1 HG03225.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0004t0003 | a0001c0001t0003g0111 a0001c0001t0003g0117 a0001c0001t0004g0166 others(2): Show |
5 | 392 | 0.0128 | 0 | c.103 others(4): Show |
p.Ter others(11): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 6/6 | 1184/1394 | 1030/1032 | 344/343 | chr1 | TogoVar | |||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show |
372 | 388 | 0.9588 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show |
208 | 378 | 0.5503 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ANKMY1_chr2_240474422_240562988 | 240557353 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00733.hp2 HG01109.hp2 others(23): Show |
a0001a0003a0006 | a0001c0006a0003c0004a0003c0010others(2): Show | a0001c0006t0001a0003c0004t0001a0003c0010t0001others(2): Show | a0001c0006t0001g0274 a0003c0004t0001g0253 a0003c0004t0001g0255 others(23): Show |
26 | 318 | 0.0818 | 0 | c.-17 others(5): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0007a0014others(3): Show | a0002c0004a0002c0005a0002c0007others(13): Show | a0002c0004t0001a0002c0005t0001a0002c0007t0001others(13): Show | a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 others(95): Show |
101 | 296 | 0.3412 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ANO7_chr2_241183677_241230976 | 241223950 | TCA | T | frameshift_variant | HIGH | HG01099.hp1 HG01884.hp2 HG01891.hp2 others(29): Show |
a0006a0009a0022 | a0006c0006a0006c0018a0009c0016others(3): Show | a0006c0006t0001a0006c0006t0003a0006c0006t0009others(9): Show | a0006c0006t0001g0006 a0006c0006t0001g0254 a0006c0006t0001g0255 others(26): Show |
32 | 394 | 0.0812 | -2 | c.257 others(11): Show |
p.Ser others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 24/25 | 2676/4560 | 2579/2640 | 860/879 | chr2 | TogoVar | |||
APOBEC3B_chr22_38977347_38997779 | 38984232 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18906.hp2 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0209 | 1 | 352 | 0.0028 | 0 | c.174 others(5): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
APOL4_chr22_36184128_36206809 | 36191797 | ACT | A | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(13): Show | a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0011 others(63): Show |
129 | 432 | 0.2986 | -2 | c.323 others(9): Show |
p.Glu others(5): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 4/4 | 399/3069 | 323/1047 | 108/348 | chr22 | TogoVar | |||
AQP12B_chr2_240671418_240687885 | 240682382 | GC | G | frameshift_variant | HIGH | HG02622.hp1 NA18906.hp2 NA18974.hp2 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0025 a0006c0006t0002g0075 a0006c0006t0002g0076 |
4 | 178 | 0.0225 | -1 | c.455 others(4): Show |
p.Ser others(5): Show |
AQP12B | ENSG00000185176.13 | transcript | ENST00000407834.4 | protein_coding | 1/3 | 503/1099 | 455/924 | 152/307 | chr2 | TogoVar | |||
ARL13B_chr3_93975155_94060678 | 94043038 | G | GA | frameshift_variant | HIGH | HG00438.hp2 HG00733.hp2 HG01175.hp1 others(14): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0003t0006a0003c0006t0001 | a0003c0003t0001g0037 a0003c0003t0001g0044 a0003c0003t0001g0089 others(14): Show |
17 | 261 | 0.0651 | 1 | c.830 others(4): Show |
p.Asn others(5): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/10 | 1100/3971 | 831/1287 | 277/428 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(343): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show |
346 | 412 | 0.8398 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | |||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show |
a0002 | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show |
151 | 438 | 0.3447 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | TogoVar | |||
ATP8B3_chr19_1777075_1817276 | 1783028 | T | C | stop_lost | HIGH | HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show |
a0006a0007a0009others(8): Show | a0006c0020a0006c0032a0006c0063others(15): Show | a0006c0020t0007a0006c0020t0008a0006c0032t0007others(16): Show | a0006c0020t0007g0011 a0006c0020t0007g0054 a0006c0020t0007g0080 others(25): Show |
28 | 388 | 0.0722 | 0 | c.390 others(4): Show |
p.Ter others(12): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 29/29 | 4142/5095 | 3903/3903 | 1301/1300 | chr19 | TogoVar | |||
BPHL_chr6_3113711_3158578 | 3127410 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01891.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0139 a0001c0001t0002g0020 others(9): Show |
17 | 348 | 0.0489 | 0 | c.378 others(5): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 3/6 | chr6 | TogoVar | |||||||
BRIX1_chr5_34910711_34930996 | 34925207 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(21): Show |
80 | 428 | 0.1869 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BZW2_chr7_16641181_16711517 | 16682767 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 others(41): Show |
46 | 416 | 0.1106 | 1 | c.340 others(6): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C12orf54_chr12_48477498_48501524 | 48494980 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 others(11): Show |
37 | 434 | 0.0853 | 0 | c.*40 others(5): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 8/8 | chr12 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show |
405 | 412 | 0.9830 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | |||||||
C16orf96_chr16_4551340_4605758 | 4592333 | TCCTGTGA others(4): Show |
T | frameshift_variant | HIGH | NA18906.hp1 | a0030 | a0030c0042 | a0030c0042t0004 | a0030c0042t0004g0224 | 1 | 276 | 0.0036 | -11 | c.274 others(20): Show |
p.Asp others(5): Show |
C16orf96 | ENSG00000205832.8 | transcript | ENST00000444310.5 | protein_coding | 11/16 | 2897/4017 | 2747/3426 | 916/1141 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
C20orf141_chr20_2809987_2820830 | 2815150 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG02258.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0002g0003 others(1): Show |
5 | 412 | 0.0121 | 0 | c.-33 others(5): Show |
C20orf141 | ENSG00000258713.3 | transcript | ENST00000603872.2 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
C2orf50_chr2_11128128_11156317 | 11133332 | A | AC | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(32): Show | a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show |
77 | 378 | 0.2037 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/3 | 208/7902 | 1/489 | 1/162 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
C2orf92_chr2_97664713_97708066 | 97702739 | GA | G | frameshift_variant | HIGH | HG01243.hp1 HG01358.hp1 HG02451.hp1 others(12): Show |
a0004a0010 | a0004c0004a0010c0010 | a0004c0004t0001a0010c0010t0001 | a0004c0004t0001g0020 a0004c0004t0001g0079 a0004c0004t0001g0080 others(11): Show |
15 | 308 | 0.0487 | -1 | c.743 others(4): Show |
p.Asn others(5): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 8/8 | 819/1139 | 743/798 | 248/265 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(153): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show |
156 | 370 | 0.4216 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C4orf33_chr4_129091152_129121637 | 129109608 | C | T | stop_gained | HIGH | HG02055.hp1 HG02451.hp2 HG02559.hp1 others(6): Show |
a0005 | a0005c0005 | a0005c0005t0004a0005c0005t0022a0005c0005t0030others(2): Show | a0005c0005t0004g0004 a0005c0005t0004g0102 a0005c0005t0004g0108 others(4): Show |
9 | 394 | 0.0228 | 0 | c.430 others(3): Show |
p.Arg others(4): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 5/6 | 497/5513 | 430/600 | 144/199 | chr4 | TogoVar | |||
CAPN11_chr6_44153820_44189401 | 44172317 | T | TGGCTGCC | frameshift_variant | HIGH | HG00323.hp1 HG01167.hp1 HG01167.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show |
21 | 458 | 0.0459 | 7 | c.426 others(14): Show |
p.Ile others(5): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 5/23 | 462/2718 | 433/2220 | 145/739 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show |
176 | 390 | 0.4513 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
CBY2_chr13_45697320_45719559 | 45713238 | C | A | stop_gained | HIGH | HG01070.hp1 HG01175.hp1 HG01243.hp2 others(19): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0004t0002a0003c0013t0001 | a0003c0004t0001g0005 a0003c0004t0001g0016 a0003c0004t0001g0034 others(6): Show |
22 | 437 | 0.0503 | 0 | c.213 others(3): Show |
p.Cys others(3): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 284/1605 | 213/1347 | 71/448 | chr13 | TogoVar | |||
CCDC141_chr2_178824757_179055137 | 178837719 | A | T | stop_gained | HIGH | NA18906.hp2 | a0021 | a0021c0026 | a0021c0026t0061 | a0021c0026t0061g0182 | 1 | 272 | 0.0037 | 0 | c.350 others(4): Show |
p.Leu others(5): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 23/24 | 3696/9205 | 3500/4593 | 1167/1530 | chr2 | TogoVar | |||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
186 | 454 | 0.4097 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | |||
CD36_chr7_80633642_80684274 | 80671133 | T | G | stop_gained | HIGH | HG01891.hp2 HG02818.hp2 HG02922.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0025 | a0002c0002t0002g0015 a0002c0002t0002g0205 a0002c0002t0007g0048 others(4): Show |
11 | 390 | 0.0282 | 0 | c.975 others(3): Show |
p.Tyr others(4): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 10/15 | 1263/4598 | 975/1419 | 325/472 | chr7 | TogoVar | |||
CD40_chr20_46113314_46134858 | 46128304 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG01361.hp1 HG01361.hp2 others(39): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0070 others(34): Show |
42 | 263 | 0.1597 | 1 | c.647 others(6): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show |
163 | 392 | 0.4158 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51329814 | A | AG | frameshift_variant | HIGH | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(43): Show |
a0001 | a0001c0004a0001c0007a0001c0009 | a0001c0004t0002a0001c0007t0002a0001c0009t0002 | a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 others(14): Show |
46 | 404 | 0.1139 | 1 | c.628 others(4): Show |
p.Leu others(5): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 7/8 | 669/953 | 628/777 | 210/258 | chr12 | TogoVar | |||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | |||
CEL_chr9_133056981_133076861 | 133071369 | G | GC | frameshift_variant | HIGH | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(21): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(12): Show |
24 | 408 | 0.0588 | 1 | c.187 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | NA18906.hp2 NA18954.hp1 |
a0001a0002 | a0001c0002a0002c0013 | a0001c0002t0001a0002c0013t0001 | a0001c0002t0001g0002 a0002c0013t0001g0036 |
2 | 403 | 0.0050 | -65 | c.194 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show |
181 | 409 | 0.4425 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show |
354 | 422 | 0.8389 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNKSR1_chr1_26172491_26194884 | 26185173 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp2 HG01109.hp1 others(10): Show |
a0004a0016a0019 | a0004c0005a0004c0017a0016c0015others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0017t0001others(2): Show | a0004c0005t0001g0001 a0004c0005t0001g0002 a0004c0005t0001g0004 others(9): Show |
13 | 370 | 0.0351 | 1 | c.129 others(5): Show |
p.Arg others(5): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 14/21 | 1355/2535 | 1298/2142 | 433/713 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CNOT10_chr3_32680188_32778875 | 32704796 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 others(12): Show |
15 | 352 | 0.0426 | 1 | c.118 others(6): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show |
137 | 215 | 0.6372 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
134 | 368 | 0.3641 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120280903 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02027.hp1 HG02293.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(4): Show | a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 others(10): Show |
13 | 95 | 0.1368 | 1 | c.368 others(7): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001a0004a0006others(17): Show | a0001c0001a0001c0014a0001c0025others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(97): Show |
103 | 290 | 0.3552 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207555265 | AGCCTTCA others(17088): Show |
A | exon_loss_variant | HIGH | HG02258.hp2 HG02622.hp2 HG02965.hp2 others(4): Show |
a0006 | a0006c0005 | a0006c0005t0001a0006c0005t0019 | a0006c0005t0001g0016 a0006c0005t0001g0018 a0006c0005t0001g0019 others(4): Show |
7 | 355 | 0.0197 | -17095 | c.310 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CT45A10_chrX_135876065_135898444 | 135882608 | A | AGCTTGTG others(28): Show |
frameshift_variant | HIGH | NA18906.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0094 | 1 | 256 | 0.0039 | 35 | c.439 others(42): Show |
p.Met others(5): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 4/5 | 545/869 | 439/570 | 147/189 | chrX | TogoVar |