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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C14orf39_chr14_60430956_60491063 | 60461416 | A | G | splice_region_variant others(1): Show |
LOW | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 294 | 0.0034 | 0 | c.105 others(6): Show |
C14orf39 | ENSG00000179008.9 | transcript | ENST00000321731.8 | protein_coding | 12/17 | chr14 | TogoVar | ||||||
C14orf39_chr14_60430956_60491063 | 60484882 | A | G | splice_region_variant others(1): Show |
LOW | HG04184.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0041 | 1 | 294 | 0.0034 | 0 | c.105 others(3): Show |
p.Asn others(5): Show |
C14orf39 | ENSG00000179008.9 | transcript | ENST00000321731.8 | protein_coding | 3/18 | 232/2780 | 105/1764 | 35/587 | chr14 | TogoVar | ||
C14orf93_chr14_22980894_23015143 | 22988020 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG01891.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0014 | a0001c0001t0003g0062a0001c0001t0003g0092a0001c0001t0003g0093others(2): Show | 5 | 344 | 0.0145 | 0 | c.108 others(6): Show |
C14orf93 | ENSG00000100802.15 | transcript | ENST00000299088.11 | protein_coding | 5/6 | chr14 | TogoVar | ||||||
C15orf39_chr15_75196882_75217169 | 75202064 | G | T | splice_region_variant others(1): Show |
LOW | NA18971.hp1 | a0002 | a0002c0016 | a0002c0016t0003 | a0002c0016t0003g0049 | 1 | 346 | 0.0029 | 0 | c.-51 others(5): Show |
C15orf39 | ENSG00000167173.19 | transcript | ENST00000394987.5 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
C15orf48_chr15_45425610_45438340 | 45432941 | T | C | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG01109.hp2 HG01167.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(5): Show | 52 | 420 | 0.1238 | 0 | c.184 others(5): Show |
C15orf48 | ENSG00000166920.13 | transcript | ENST00000396650.7 | protein_coding | 4/4 | chr15 | TogoVar | ||||||
C16orf78_chr16_49368804_49404431 | 49399132 | T | C | missense_variant others(1): Show |
MODERATE | NA18942.hp2 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0024 | 1 | 356 | 0.0028 | 0 | c.652 others(3): Show |
p.Tyr others(6): Show |
C16orf78 | ENSG00000166152.4 | transcript | ENST00000299191.4 | protein_coding | 5/5 | 788/1087 | 652/798 | 218/265 | chr16 | TogoVar | ||
C16orf89_chr16_5039122_5070956 | 5044482 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0318 | 1 | 432 | 0.0023 | 0 | c.956 others(5): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 7/7 | chr16 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5047875 | T | C | splice_region_variant others(1): Show |
LOW | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 432 | 0.0023 | 0 | c.955 others(5): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 7/7 | chr16 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5055358 | T | C | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00673.hp2 HG01884.hp1 others(12): Show |
a0001a0004a0006 | a0001c0002a0004c0005a0006c0013 | a0001c0002t0001a0004c0005t0001a0006c0013t0001 | a0001c0002t0001g0329a0001c0002t0001g0330a0001c0002t0001g0331others(12): Show | 15 | 432 | 0.0347 | 0 | c.764 others(5): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 5/7 | chr16 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5056049 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp1 HG00642.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0125a0001c0002t0001g0319others(4): Show | 9 | 432 | 0.0208 | 0 | c.763 others(5): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 5/7 | chr16 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5060287 | C | T | missense_variant others(1): Show |
MODERATE | HG04204.hp1 | a0009 | a0009c0009 | a0009c0009t0004 | a0009c0009t0004g0224 | 1 | 432 | 0.0023 | 0 | c.508 others(3): Show |
p.Gly others(6): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 3/8 | 556/1360 | 508/1086 | 170/361 | chr16 | TogoVar | ||
C16orf92_chr16_30018198_30029704 | 30023996 | C | G | splice_region_variant others(1): Show |
LOW | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 352 | 0.0028 | 0 | c.224 others(5): Show |
C16orf92 | ENSG00000167194.8 | transcript | ENST00000681219.1 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
C16orf95_chr16_87297814_87322392 | 87305713 | G | C | splice_region_variant others(1): Show |
LOW | HG03669.hp2 HG04184.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 2 | 458 | 0.0044 | 0 | c.701 others(5): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
C16orf96_chr16_4551340_4605758 | 4592298 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 278 | 0.0036 | 0 | c.271 others(6): Show |
C16orf96 | ENSG00000205832.8 | transcript | ENST00000444310.5 | protein_coding | 10/15 | chr16 | TogoVar | ||||||
C17orf49_chr17_7009782_7022520 | 7015774 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(273): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(16): Show | 276 | 382 | 0.7225 | 0 | c.117 others(3): Show |
p.Gly others(5): Show |
C17orf49 | ENSG00000258315.5 | transcript | ENST00000439424.6 | protein_coding | 3/6 | 193/850 | 117/519 | 39/172 | chr17 | TogoVar | ||
C17orf67_chr17_56786913_56838920 | 56795183 | G | A | splice_region_variant others(1): Show |
LOW | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 292 | 0.0034 | 0 | c.157 others(5): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37377871 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02055.hp2 HG02257.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0035a0001c0001t0001g0196others(9): Show | 13 | 441 | 0.0295 | 0 | c.59- others(4): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37377876 | C | T | splice_region_variant others(1): Show |
LOW | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 1 | 441 | 0.0023 | 0 | c.59- others(4): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
C17orf80_chr17_73227433_73253959 | 73233212 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0001a0002c0013others(7): Show | a0001c0002t0002a0002c0001t0001a0002c0001t0006others(15): Show | a0001c0002t0002g0055a0001c0002t0002g0165a0002c0001t0001g0002others(83): Show | 196 | 384 | 0.5104 | 0 | c.-11 others(6): Show |
C17orf80 | ENSG00000141219.16 | transcript | ENST00000535032.7 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
C17orf99_chr17_78141385_78171297 | 78161262 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(137): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0011others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0409a0001c0001t0004g0005a0001c0001t0004g0030others(126): Show | 140 | 446 | 0.3139 | 0 | c.370 others(5): Show |
C17orf99 | ENSG00000187997.12 | transcript | ENST00000340363.10 | protein_coding | 3/4 | chr17 | TogoVar | ||||||
C18orf21_chr18_35967679_35984278 | 35975101 | A | T | splice_region_variant others(1): Show |
LOW | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 400 | 0.0025 | 0 | c.300 others(5): Show |
C18orf21 | ENSG00000141428.17 | transcript | ENST00000592875.6 | protein_coding | 3/4 | chr18 | TogoVar | ||||||
C18orf32_chr18_49472243_49492234 | 49483774 | G | A | splice_region_variant others(1): Show |
LOW | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0120 | 1 | 440 | 0.0023 | 0 | c.-23 others(5): Show |
C18orf32 | ENSG00000177576.12 | transcript | ENST00000318240.8 | protein_coding | 1/2 | chr18 | TogoVar | ||||||
C18orf54_chr18_54352906_54387034 | 54382033 | C | T | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(233): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010others(109): Show | 236 | 336 | 0.7024 | 0 | c.*37 others(5): Show |
C18orf54 | ENSG00000166845.15 | transcript | ENST00000620105.5 | protein_coding | 9/9 | chr18 | TogoVar | ||||||
C18orf63_chr18_74310839_74364189 | 74353240 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(136): Show |
a0001a0007a0014 | a0001c0001a0001c0008a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(82): Show | 139 | 372 | 0.3737 | 0 | c.979 others(5): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 11/13 | chr18 | TogoVar | ||||||
C19orf18_chr19_57953437_57979534 | 57961554 | G | A | splice_region_variant others(1): Show |
LOW | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 408 | 0.0025 | 0 | c.372 others(5): Show |
C19orf18 | ENSG00000177025.3 | transcript | ENST00000314391.3 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
C19orf18_chr19_57953437_57979534 | 57972457 | G | T | splice_region_variant others(1): Show |
LOW | HG04199.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0155 | 1 | 408 | 0.0025 | 0 | c.268 others(5): Show |
C19orf18 | ENSG00000177025.3 | transcript | ENST00000314391.3 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
C19orf44_chr19_16491394_16526352 | 16501554 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(130): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0035a0001c0002t0001g0168a0001c0002t0001g0169others(80): Show | 133 | 330 | 0.4030 | 0 | c.759 others(5): Show |
C19orf44 | ENSG00000105072.9 | transcript | ENST00000221671.8 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
C19orf44_chr19_16491394_16526352 | 16509491 | C | T | splice_region_variant others(1): Show |
LOW | HG03239.hp1 HG03669.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0014 | 4 | 330 | 0.0121 | 0 | c.115 others(6): Show |
C19orf44 | ENSG00000105072.9 | transcript | ENST00000221671.8 | protein_coding | 4/8 | chr19 | TogoVar | ||||||
C19orf44_chr19_16491394_16526352 | 16520091 | C | T | splice_region_variant others(1): Show |
LOW | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0095 | 1 | 330 | 0.0030 | 0 | c.*41 others(5): Show |
C19orf44 | ENSG00000105072.9 | transcript | ENST00000221671.8 | protein_coding | 8/8 | chr19 | TogoVar | ||||||
C19orf47_chr19_40314536_40353397 | 40319535 | C | CT | splice_region_variant | LOW | HG01358.hp1 HG02074.hp1 HG02109.hp1 others(24): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0003 | a0001c0001t0005a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0005g0001a0001c0001t0005g0010a0001c0001t0005g0210others(19): Show | 27 | 384 | 0.0703 | 1 | c.*23 others(6): Show |
C19orf47 | ENSG00000160392.14 | transcript | ENST00000683109.1 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
C19orf47_chr19_40314536_40353397 | 40326492 | G | A | splice_region_variant others(1): Show |
LOW | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0110 | 1 | 384 | 0.0026 | 0 | c.440 others(5): Show |
C19orf47 | ENSG00000160392.14 | transcript | ENST00000683109.1 | protein_coding | 6/8 | chr19 | TogoVar | ||||||
C19orf67_chr19_14076624_14090783 | 14083427 | C | T | splice_region_variant others(1): Show |
LOW | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 394 | 0.0025 | 0 | c.582 others(5): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
C1QL3_chr10_16508734_16526879 | 16514711 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(263): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0011others(85): Show | 266 | 460 | 0.5783 | 0 | c.589 others(5): Show |
C1QL3 | ENSG00000165985.11 | transcript | ENST00000298943.4 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
C1QTNF12_chr1_1237453_1251722 | 1243440 | T | TCACCCAC others(37): Show |
splice_region_variant others(1): Show |
LOW | HG02109.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0112 | 1 | 328 | 0.0031 | 44 | c.600 others(53): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
C1QTNF2_chr5_160342754_160375626 | 160347753 | GT | G | splice_region_variant | LOW | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(226): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0009others(163): Show | 229 | 452 | 0.5066 | -1 | c.*14 others(6): Show |
C1QTNF2 | ENSG00000145861.9 | transcript | ENST00000652664.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
C1QTNF2_chr5_160342754_160375626 | 160347753 | GTT | G | splice_region_variant | LOW | HG00099.hp1 HG00621.hp2 HG01069.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0013others(4): Show | a0001c0001t0004g0138a0001c0001t0006g0016a0001c0001t0006g0030others(50): Show | 71 | 452 | 0.1571 | -2 | c.*14 others(13): Show |
C1QTNF2 | ENSG00000145861.9 | transcript | ENST00000652664.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
C1QTNF2_chr5_160342754_160375626 | 160347753 | GTTT | G | splice_region_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(139): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0029a0001c0001t0001g0056a0001c0001t0001g0073others(106): Show | 142 | 452 | 0.3142 | -3 | c.*14 others(14): Show |
C1QTNF2 | ENSG00000145861.9 | transcript | ENST00000652664.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
C1QTNF5_chr11_119333942_119345883 | 119340689 | A | G | splice_region_variant others(1): Show |
LOW | HG03490.hp2 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 2 | 388 | 0.0052 | 0 | c.-44 others(5): Show |
C1QTNF5 | ENSG00000223953.6 | transcript | ENST00000528368.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
C1QTNF7_chr4_15423033_15451167 | 15435987 | G | A | splice_region_variant others(1): Show |
LOW | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0070 | 1 | 444 | 0.0023 | 0 | c.238 others(5): Show |
C1QTNF7 | ENSG00000163145.13 | transcript | ENST00000444304.3 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1093492 | C | A | splice_region_variant others(1): Show |
LOW | NA18970.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0118a0001c0001t0033g0069 | 2 | 396 | 0.0051 | 0 | c.*4+ others(4): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24316177 | C | T | splice_region_variant others(1): Show |
LOW | HG03239.hp1 HG04199.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0071a0001c0012t0001g0157 | 2 | 466 | 0.0043 | 0 | c.166 others(5): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 2/3 | chr13 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24318888 | G | A | splice_region_variant others(1): Show |
LOW | HG03130.hp2 | a0001 | a0001c0017 | a0001c0017t0009 | a0001c0017t0009g0091 | 1 | 466 | 0.0022 | 0 | c.229 others(5): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24320996 | G | C | missense_variant others(1): Show |
MODERATE | HG01496.hp2 NA18957.hp1 NA18978.hp2 others(7): Show |
a0006 | a0006c0005 | a0006c0005t0001a0006c0005t0005 | a0006c0005t0001g0011a0006c0005t0001g0054a0006c0005t0001g0222others(2): Show | 10 | 466 | 0.0215 | 0 | c.230 others(3): Show |
p.Gly others(5): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 4/4 | 289/1824 | 230/1002 | 77/333 | chr13 | TogoVar | ||
C1RL_chr12_7089554_7114214 | 7102090 | G | C | splice_region_variant others(1): Show |
LOW | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 438 | 0.0023 | 0 | c.301 others(5): Show |
C1RL | ENSG00000139178.12 | transcript | ENST00000266542.9 | protein_coding | 2/5 | chr12 | TogoVar | ||||||
C1R_chr12_7075219_7097445 | 7086455 | C | T | splice_region_variant others(1): Show |
LOW | NA18941.hp2 NA18942.hp1 NA18981.hp1 others(5): Show |
a0001a0011 | a0001c0006a0011c0015 | a0001c0006t0001a0011c0015t0001 | a0001c0006t0001g0017a0001c0006t0001g0166a0001c0006t0001g0176others(3): Show | 8 | 320 | 0.0250 | 0 | c.104 others(4): Show |
p.Gly others(6): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 8/11 | 1098/2488 | 1041/2118 | 347/705 | chr12 | TogoVar | ||
C1R_chr12_7075219_7097445 | 7091446 | C | T | splice_region_variant others(1): Show |
LOW | HG01261.hp2 HG02976.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0045a0002c0002t0001g0043a0002c0002t0001g0044 | 3 | 320 | 0.0094 | 0 | c.231 others(5): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
C1S_chr12_7055718_7076032 | 7065812 | T | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 370 | 0.0027 | 0 | c.718 others(5): Show |
C1S | ENSG00000182326.17 | transcript | ENST00000360817.10 | protein_coding | 6/11 | chr12 | TogoVar | ||||||
C1orf100_chr1_244347635_244394663 | 244378469 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0080 | 1 | 452 | 0.0022 | 0 | c.155 others(3): Show |
p.Pro others(5): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 4/5 | 268/1151 | 155/444 | 52/147 | chr1 | TogoVar | ||
C1orf100_chr1_244347635_244394663 | 244389661 | A | T | splice_region_variant | LOW | HG00099.hp2 HG00280.hp2 HG00544.hp2 others(71): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0024a0001c0001t0003g0028a0001c0001t0003g0030others(71): Show | 74 | 452 | 0.1637 | 0 | c.*59 others(4): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
C1orf105_chr1_172415685_172473829 | 172456416 | C | A | missense_variant others(1): Show |
MODERATE | HG03239.hp1 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0092 | 1 | 320 | 0.0031 | 0 | c.200 others(3): Show |
p.Ala others(5): Show |
C1orf105 | ENSG00000180999.11 | transcript | ENST00000367727.9 | protein_coding | 4/7 | 401/988 | 200/552 | 67/183 | chr1 | TogoVar |