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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1orf127_chr1_10941475_10987076 | 10958707 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02257.hp2 HG03453.hp1 |
a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0024a0006c0010t0005g0110a0006c0010t0005g0111 | 3 | 392 | 0.0077 | 0 | c.555 others(5): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10958708 | G | A | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02056.hp1 HG02145.hp1 others(34): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0109a0001c0001t0001g0334others(34): Show | 37 | 392 | 0.0944 | 0 | c.555 others(5): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10964123 | A | T | splice_region_variant others(1): Show |
LOW | HG03239.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0225 | 2 | 392 | 0.0051 | 0 | c.516 others(5): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 5/12 | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10976261 | G | T | splice_region_variant others(1): Show |
LOW | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0309 | 1 | 392 | 0.0026 | 0 | c.27- others(4): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
C1orf146_chr1_92212915_92250813 | 92242213 | G | C | missense_variant others(1): Show |
MODERATE | NA18954.hp1 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0061 | 1 | 280 | 0.0036 | 0 | c.68G others(2): Show |
p.Ser others(5): Show |
C1orf146 | ENSG00000203910.9 | transcript | ENST00000370375.8 | protein_coding | 3/6 | 241/855 | 68/543 | 23/180 | chr1 | TogoVar | ||
C1orf159_chr1_1076823_1121089 | 1087202 | C | A | missense_variant others(1): Show |
MODERATE | HG03942.hp2 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0088 | 1 | 326 | 0.0031 | 0 | c.247 others(3): Show |
p.Ala others(5): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 6/10 | 412/1832 | 247/597 | 83/198 | chr1 | TogoVar | ||
C1orf162_chr1_111468984_111483512 | 111477721 | G | A | splice_region_variant others(1): Show |
LOW | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 476 | 0.0021 | 0 | c.203 others(5): Show |
C1orf162 | ENSG00000143110.12 | transcript | ENST00000369718.4 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11762305 | C | T | splice_region_variant | LOW | HG01109.hp2 HG02647.hp1 HG02717.hp1 others(3): Show |
a0006a0012a0040 | a0006c0005a0012c0013a0040c0043 | a0006c0005t0002a0012c0013t0002a0040c0043t0002 | a0006c0005t0002g0017a0006c0005t0002g0020a0006c0005t0002g0060others(3): Show | 6 | 350 | 0.0171 | 0 | c.-71 others(3): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 1/21 | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11779079 | C | T | missense_variant others(1): Show |
MODERATE | HG00621.hp1 | a0045 | a0045c0054 | a0045c0054t0001 | a0045c0054t0001g0230 | 1 | 350 | 0.0029 | 0 | c.265 others(4): Show |
p.Arg others(6): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 12/21 | 2833/4672 | 2650/4350 | 884/1449 | chr1 | TogoVar | ||
C1orf167_chr1_11757193_11794585 | 11779793 | CT | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(43): Show |
a0002a0016a0036 | a0002c0002a0016c0019a0036c0039 | a0002c0002t0001a0016c0019t0001a0036c0039t0001 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0005others(37): Show | 46 | 350 | 0.1314 | -1 | c.265 others(7): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf167_chr1_11757193_11794585 | 11787875 | T | C | missense_variant others(1): Show |
MODERATE | HG03491.hp1 NA18986.hp2 NA19089.hp2 |
a0021 | a0021c0016 | a0021c0016t0001 | a0021c0016t0001g0199a0021c0016t0001g0279a0021c0016t0001g0292 | 3 | 350 | 0.0086 | 0 | c.367 others(4): Show |
p.Cys others(7): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 18/21 | 3859/4672 | 3676/4350 | 1226/1449 | chr1 | TogoVar | ||
C1orf174_chr1_3884133_3905272 | 3890079 | T | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(214): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(21): Show | a0001c0001t0003g0001a0001c0001t0003g0019a0001c0001t0003g0020others(67): Show | 217 | 440 | 0.4932 | 0 | c.619 others(5): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
C1orf232_chr1_26159101_26173963 | 26166030 | C | T | splice_region_variant others(1): Show |
LOW | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 400 | 0.0025 | 0 | c.168 others(5): Show |
C1orf232 | ENSG00000282872.2 | transcript | ENST00000634842.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
C1orf56_chr1_151042751_151056420 | 151051393 | GAAA | G | splice_region_variant | LOW | HG00673.hp1 HG01433.hp2 HG01975.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001a0001c0001t0006g0002a0001c0001t0006g0004 | 14 | 342 | 0.0409 | -3 | c.*96 others(12): Show |
C1orf56 | ENSG00000143443.10 | transcript | ENST00000368926.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf87_chr1_59985394_60078770 | 60010461 | G | A | splice_region_variant others(1): Show |
LOW | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 382 | 0.0026 | 0 | c.112 others(6): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
C1orf94_chr1_34171907_34224131 | 34202262 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(50): Show |
a0001a0003a0012others(1): Show | a0001c0001a0003c0003a0003c0005others(3): Show | a0001c0001t0007a0003c0003t0001a0003c0003t0003others(14): Show | a0001c0001t0007g0206a0003c0003t0001g0098a0003c0003t0001g0101others(42): Show | 53 | 356 | 0.1489 | 0 | c.144 others(6): Show |
C1orf94 | ENSG00000142698.15 | transcript | ENST00000488417.2 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
C20orf173_chr20_35521979_35534652 | 35528453 | T | C | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00642.hp1 HG00673.hp2 others(81): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0003a0003c0004t0001 | a0002c0002t0001g0002a0002c0002t0001g0018a0002c0002t0003g0019others(3): Show | 84 | 366 | 0.2295 | 0 | c.580 others(3): Show |
p.Lys others(6): Show |
C20orf173 | ENSG00000125975.14 | transcript | ENST00000444723.3 | protein_coding | 4/6 | 725/1051 | 580/609 | 194/202 | chr20 | TogoVar | ||
C20orf203_chr20_32626625_32678941 | 32651168 | T | TA | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00741.hp1 HG01109.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0040others(44): Show | 47 | 360 | 0.1306 | 1 | c.-14 others(6): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32651168 | T | TAA | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02451.hp2 HG02630.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0166a0001c0001t0001g0168a0001c0001t0002g0170others(6): Show | 11 | 360 | 0.0306 | 2 | c.-14 others(13): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32651168 | TA | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0020a0001c0001t0001g0034a0001c0001t0001g0054others(77): Show | 82 | 360 | 0.2278 | -1 | c.-14 others(6): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32651168 | TAAAAAAA others(6): Show |
T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 360 | 0.0028 | -13 | c.-14 others(25): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 276086 | T | A | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(255): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(240): Show | 258 | 410 | 0.6293 | 0 | c.913 others(3): Show |
p.Ile others(6): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/11 | 1053/1576 | 913/1092 | 305/363 | chr20 | TogoVar | ||
C20orf96_chr20_265863_295750 | 277222 | C | T | splice_region_variant others(1): Show |
LOW | NA18939.hp2 NA18945.hp1 NA18957.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0015a0001c0001t0001g0244a0001c0001t0001g0263others(2): Show | 6 | 410 | 0.0146 | 0 | c.723 others(5): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 7/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279328 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(272): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(256): Show | 275 | 410 | 0.6707 | 0 | c.309 others(3): Show |
p.Thr others(6): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/11 | 449/1576 | 309/1092 | 103/363 | chr20 | TogoVar | ||
C20orf96_chr20_265863_295750 | 290584 | T | TTA | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01168.hp1 HG01168.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0373a0001c0001t0001g0375a0001c0001t0001g0379others(9): Show | 12 | 410 | 0.0293 | 2 | c.20+ others(11): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 290584 | T | TTTA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(107): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0278a0001c0001t0001g0282others(100): Show | 110 | 410 | 0.2683 | 3 | c.20+ others(12): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 290584 | T | TTTTA | splice_region_variant others(1): Show |
LOW | HG01175.hp1 HG01433.hp2 HG02165.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0250a0001c0001t0001g0258others(30): Show | 35 | 410 | 0.0854 | 4 | c.20+ others(13): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 290584 | T | TTTTTA | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01099.hp2 HG01243.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0240a0001c0001t0001g0241others(11): Show | 16 | 410 | 0.0390 | 5 | c.20+ others(14): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46302477 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(183): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(159): Show | 186 | 378 | 0.4921 | 0 | c.813 others(5): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 7/7 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46315555 | G | A | splice_region_variant others(1): Show |
LOW | HG01243.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0299 | 1 | 378 | 0.0027 | 0 | c.371 others(5): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 3/7 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32807721 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(190): Show | 211 | 303 | 0.6964 | 0 | c.-13 others(6): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
C22orf15_chr22_23757990_23770863 | 23764261 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00408.hp2 HG00639.hp2 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0010 | 24 | 432 | 0.0556 | 0 | c.114 others(3): Show |
p.Ala others(5): Show |
C22orf15 | ENSG00000169314.15 | transcript | ENST00000402217.8 | protein_coding | 3/6 | 431/895 | 114/447 | 38/148 | chr22 | TogoVar | ||
C22orf15_chr22_23757990_23770863 | 23764640 | G | A | splice_region_variant others(1): Show |
LOW | HG04115.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0004 | 1 | 432 | 0.0023 | 0 | c.252 others(3): Show |
p.Lys others(5): Show |
C22orf15 | ENSG00000169314.15 | transcript | ENST00000402217.8 | protein_coding | 4/6 | 569/895 | 252/447 | 84/148 | chr22 | TogoVar | ||
C22orf31_chr22_29053672_29066831 | 29061463 | TCCATGTT others(3582): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG02647.hp2 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0130 | 1 | 472 | 0.0021 | -3589 | c.-32 others(11): Show |
C22orf31 | ENSG00000100249.5 | transcript | ENST00000216071.5 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
C22orf39_chr22_19435886_19452711 | 19447552 | C | T | splice_region_variant others(1): Show |
LOW | HG02572.hp1 HG03098.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 3 | 420 | 0.0071 | 0 | c.25- others(4): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32150312 | A | G | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG03130.hp1 |
a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0029 | 2 | 398 | 0.0050 | 0 | c.654 others(5): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 7/8 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32151025 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0002a0002c0002t0006a0002c0004t0003others(5): Show | a0002c0002t0002g0004a0002c0002t0002g0011a0002c0002t0002g0014others(42): Show | 114 | 398 | 0.2864 | 0 | c.466 others(5): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 5/8 | chr22 | TogoVar | ||||||
C2CD2L_chr11_119102344_119123544 | 119110553 | G | A | splice_region_variant others(1): Show |
LOW | HG02976.hp1 HG03130.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 5 | 398 | 0.0126 | 0 | c.451 others(5): Show |
C2CD2L | ENSG00000172375.14 | transcript | ENST00000648610.2 | protein_coding | 2/13 | chr11 | TogoVar | ||||||
C2CD2L_chr11_119102344_119123544 | 119112400 | A | G | splice_region_variant others(1): Show |
LOW | NA18953.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0055a0001c0001t0014g0054 | 2 | 398 | 0.0050 | 0 | c.108 others(6): Show |
C2CD2L | ENSG00000172375.14 | transcript | ENST00000648610.2 | protein_coding | 8/13 | chr11 | TogoVar | ||||||
C2CD2L_chr11_119102344_119123544 | 119112483 | C | T | splice_region_variant others(1): Show |
LOW | NA18941.hp1 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0003 | 1 | 398 | 0.0025 | 0 | c.108 others(4): Show |
p.Thr others(6): Show |
C2CD2L | ENSG00000172375.14 | transcript | ENST00000648610.2 | protein_coding | 9/14 | 1484/4807 | 1086/2121 | 362/706 | chr11 | TogoVar | ||
C2CD2L_chr11_119102344_119123544 | 119113712 | C | T | missense_variant others(1): Show |
MODERATE | NA18612.hp1 NA18986.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0001 | 2 | 398 | 0.0050 | 0 | c.148 others(4): Show |
p.Arg others(6): Show |
C2CD2L | ENSG00000172375.14 | transcript | ENST00000648610.2 | protein_coding | 11/14 | 1887/4807 | 1489/2121 | 497/706 | chr11 | TogoVar | ||
C2CD2_chr21_41880112_41959018 | 41899045 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02559.hp1 HG03225.hp2 others(2): Show |
a0001a0002 | a0001c0011a0001c0021a0002c0008 | a0001c0011t0005a0001c0021t0005a0002c0008t0005others(1): Show | a0001c0011t0005g0140a0001c0021t0005g0235a0002c0008t0005g0260others(2): Show | 5 | 396 | 0.0126 | 0 | c.187 others(6): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 13/13 | chr21 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74042223 | C | CA | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(20): Show |
a0002a0004a0006others(6): Show | a0002c0003a0004c0004a0006c0008others(6): Show | a0002c0003t0001a0004c0004t0001a0006c0008t0001others(6): Show | a0002c0003t0001g0018a0004c0004t0001g0047a0006c0008t0001g0229others(20): Show | 23 | 318 | 0.0723 | 1 | c.549 others(7): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 28/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74042223 | CA | C | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG02015.hp1 HG02886.hp2 others(6): Show |
a0002a0003a0004others(2): Show | a0002c0005a0003c0002a0003c0016others(3): Show | a0002c0005t0001a0003c0002t0001a0003c0016t0001others(3): Show | a0002c0005t0001g0063a0002c0005t0001g0069a0002c0005t0001g0072others(6): Show | 9 | 318 | 0.0283 | -1 | c.549 others(7): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 28/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74048206 | T | C | missense_variant others(1): Show |
MODERATE | HG01074.hp2 HG02109.hp1 HG02258.hp1 others(20): Show |
a0004a0014a0031 | a0004c0004a0014c0020a0031c0032 | a0004c0004t0001a0014c0020t0004a0031c0032t0001 | a0004c0004t0001g0032a0004c0004t0001g0033a0004c0004t0001g0034others(20): Show | 23 | 318 | 0.0723 | 0 | c.549 others(4): Show |
p.Arg others(7): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 28/33 | 5704/7939 | 5494/7062 | 1832/2353 | chr11 | TogoVar | ||
C2CD3_chr11_74007718_74176002 | 74109028 | A | T | splice_region_variant others(1): Show |
LOW | HG03516.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0234 | 1 | 318 | 0.0031 | 0 | c.196 others(6): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 12/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74133555 | G | C | missense_variant others(1): Show |
MODERATE | HG06807.hp1 | a0036 | a0036c0042 | a0036c0042t0001 | a0036c0042t0001g0302 | 1 | 318 | 0.0031 | 0 | c.958 others(3): Show |
p.Leu others(6): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 6/33 | 1168/7939 | 958/7062 | 320/2353 | chr11 | TogoVar | ||
C2CD4B_chr15_62158535_62170285 | 62165028 | C | T | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG00673.hp1 HG02027.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 18 | 432 | 0.0417 | 0 | c.-40 others(5): Show |
C2CD4B | ENSG00000205502.4 | transcript | ENST00000380392.4 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
C2CD4D_chr1_151832818_151844820 | 151839220 | G | T | splice_region_variant | LOW | NA18942.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 2 | 442 | 0.0045 | 0 | c.-23 others(4): Show |
C2CD4D | ENSG00000225556.2 | transcript | ENST00000694868.1 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201545621 | C | T | missense_variant others(1): Show |
MODERATE | HG02976.hp2 HG03471.hp2 |
a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0013a0013c0010t0001g0014 | 2 | 270 | 0.0074 | 0 | c.108 others(4): Show |
p.Glu others(6): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 11/16 | 1132/5702 | 1084/5463 | 362/1820 | chr2 | TogoVar |