| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATXN2L_chr16_28817999_28842232 | 28823252 | CTGCCATC others(5): Show |
C | start_lost others(1): Show |
HIGH | NA18956.hp2 | a0002 | a0002c0028 | a0002c0028t0009 | a0002c0028t0009g0062 | 1 | 382 | 0.0026 | -12 | c.-7_ others(16): Show |
p.Met others(9): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 255/4456 | 1/3228 | 1/1075 | chr16 | TogoVar | ||
| AXDND1_chr1_179360971_179559735 | 179534890 | AAAG | A | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(106): Show |
a0002a0004a0005others(5): Show | a0002c0001a0002c0019a0002c0020others(9): Show | a0002c0001t0001a0002c0019t0001a0002c0020t0001others(9): Show | a0002c0001t0001g0004a0002c0001t0001g0105a0002c0001t0001g0134others(106): Show | 109 | 356 | 0.3062 | -3 | c.297 others(12): Show |
p.Glu others(6): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/26 | 3107/3391 | 2971/3039 | 991/1012 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| AZU1_chr19_822837_837018 | 830938 | CAATGTGA others(12): Show |
C | splice_donor_variant others(3): Show |
HIGH | HG01192.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0075 | 1 | 391 | 0.0026 | -19 | c.592 others(29): Show |
p.Asn others(6): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4/5 | 602/907 | 592/756 | 198/251 | chr19 | TogoVar | ||
| B4GALNT4_chr11_364499_387117 | 373494 | TCCCAGGT others(8): Show |
T | conservative_inframe_deletion | MODERATE | HG03490.hp2 | a0022 | a0022c0029 | a0022c0029t0001 | a0022c0029t0001g0135 | 1 | 184 | 0.0054 | -15 | c.685 others(22): Show |
p.Gln others(13): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 7/20 | 990/3750 | 685/3120 | 229/1039 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| BAG1_chr9_33247471_33269708 | 33264401 | ACTC | A | conservative_inframe_deletion | MODERATE | HG01109.hp1 HG01884.hp1 HG06807.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0016 | a0001c0003t0008g0023a0001c0003t0008g0112a0001c0003t0016g0039 | 6 | 348 | 0.0172 | -3 | c.271 others(10): Show |
p.Glu others(5): Show |
BAG1 | ENSG00000107262.26 | transcript | ENST00000634734.3 | protein_coding | 1/7 | 307/3820 | 271/1038 | 91/345 | chr9 | TogoVar | ||
| BARD1_chr2_214720646_214814683 | 214780778 | GTGGTGAA others(14): Show |
G | conservative_inframe_deletion | MODERATE | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(23): Show |
a0003a0014a0021 | a0003c0005a0014c0016a0021c0024 | a0003c0005t0005a0003c0005t0006a0003c0005t0034others(7): Show | a0003c0005t0005g0101a0003c0005t0006g0016a0003c0005t0006g0242others(22): Show | 26 | 362 | 0.0718 | -21 | c.107 others(30): Show |
p.Leu others(13): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 4/11 | 1209/5478 | 1075/2334 | 359/777 | chr2 | TogoVar | ||
| BIK_chr22_43105750_43134712 | 43129228 | GTGCTGCT others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG01975.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0003 | 1 | 386 | 0.0026 | -30 | c.415 others(37): Show |
p.Ala others(13): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 5/5 | 476/951 | 415/483 | 139/160 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| BTBD2_chr19_1980448_2020714 | 2015541 | GGGC | G | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(120): Show |
a0001 | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0220a0001c0001t0001g0224a0001c0001t0001g0228others(118): Show | 123 | 364 | 0.3379 | -3 | c.160 others(10): Show |
p.Ala others(5): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 173/2629 | 160/1578 | 54/525 | chr19 | TogoVar | ||
| BTBD2_chr19_1980448_2020714 | 2015541 | GGGCGGC | G | conservative_inframe_deletion | MODERATE | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(87): Show |
a0003a0016 | a0003c0004a0003c0006a0003c0009others(4): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0008others(13): Show | a0003c0004t0001g0160a0003c0004t0001g0162a0003c0004t0001g0163others(84): Show | 90 | 364 | 0.2473 | -6 | c.157 others(13): Show |
p.Ala others(11): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 173/2629 | 157/1578 | 53/525 | chr19 | TogoVar | ||
| BTBD2_chr19_1980448_2020714 | 2015541 | GGGCGGCG others(2): Show |
G | conservative_inframe_deletion | MODERATE | HG01099.hp2 HG01891.hp1 HG02004.hp2 others(19): Show |
a0005a0009a0010 | a0005c0010a0005c0013a0005c0018others(5): Show | a0005c0010t0001a0005c0010t0002a0005c0010t0005others(8): Show | a0005c0010t0001g0119a0005c0010t0001g0120a0005c0010t0001g0129others(18): Show | 22 | 364 | 0.0604 | -9 | c.154 others(16): Show |
p.Ala others(11): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 173/2629 | 154/1578 | 52/525 | chr19 | TogoVar | ||
| BTBD2_chr19_1980448_2020714 | 2015541 | GGGCGGCG others(5): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(98): Show |
a0002a0008a0011others(1): Show | a0002c0002a0002c0005a0002c0008others(8): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(18): Show | a0002c0002t0001g0021a0002c0002t0001g0022a0002c0002t0001g0036others(97): Show | 101 | 364 | 0.2775 | -12 | c.151 others(19): Show |
p.Ala others(11): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 173/2629 | 151/1578 | 51/525 | chr19 | TogoVar | ||
| BTBD2_chr19_1980448_2020714 | 2015541 | GGGCGGCG others(8): Show |
G | conservative_inframe_deletion | MODERATE | NA19030.hp2 | a0013 | a0013c0023 | a0013c0023t0005 | a0013c0023t0005g0014 | 1 | 364 | 0.0028 | -15 | c.148 others(22): Show |
p.Ala others(11): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 173/2629 | 148/1578 | 50/525 | chr19 | TogoVar | ||
| BTBD2_chr19_1980448_2020714 | 2015541 | GGGCGGCG others(11): Show |
G | conservative_inframe_deletion | MODERATE | NA18990.hp1 NA19087.hp1 |
a0006 | a0006c0020a0006c0021 | a0006c0020t0003a0006c0021t0002 | a0006c0020t0003g0012a0006c0021t0002g0011 | 2 | 364 | 0.0055 | -18 | c.145 others(25): Show |
p.Ala others(11): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 173/2629 | 145/1578 | 49/525 | chr19 | TogoVar | ||
| BTBD2_chr19_1980448_2020714 | 2015541 | GGGCGGCG others(14): Show |
G | conservative_inframe_deletion | MODERATE | HG02818.hp2 HG03710.hp1 |
a0007 | a0007c0015 | a0007c0015t0001a0007c0015t0022 | a0007c0015t0001g0010a0007c0015t0022g0009 | 2 | 364 | 0.0055 | -21 | c.142 others(28): Show |
p.Ala others(11): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 173/2629 | 142/1578 | 48/525 | chr19 | TogoVar | ||
| C16orf74_chr16_85702517_85756096 | 85710272 | GGCTGCTG others(2): Show |
G | conservative_inframe_deletion | MODERATE | HG01255.hp1 HG02109.hp1 HG02257.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152a0002c0002t0001g0163a0002c0002t0001g0392others(1): Show | 4 | 410 | 0.0098 | -9 | c.55_ others(14): Show |
p.Ser others(11): Show |
C16orf74 | ENSG00000154102.11 | transcript | ENST00000284245.9 | protein_coding | 3/4 | 252/911 | 55/231 | 19/76 | chr16 | TogoVar | ||
| C19orf33_chr19_38299251_38310006 | 38304906 | TGAA | T | conservative_inframe_deletion | MODERATE | HG00438.hp2 HG00735.hp1 HG00738.hp1 others(70): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 | 73 | 406 | 0.1798 | -3 | c.271 others(10): Show |
p.Lys others(5): Show |
C19orf33 | ENSG00000167644.12 | transcript | ENST00000301246.10 | protein_coding | 4/4 | 282/374 | 271/321 | 91/106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| C19orf33_chr19_38299251_38310006 | 38304914 | AAGG | A | conservative_inframe_deletion | MODERATE | HG02257.hp2 HG02258.hp1 HG03453.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0001 | 4 | 406 | 0.0099 | -3 | c.274 others(10): Show |
p.Glu others(5): Show |
C19orf33 | ENSG00000167644.12 | transcript | ENST00000301246.10 | protein_coding | 4/4 | 285/374 | 274/321 | 92/106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| C19orf33_chr19_38299251_38310006 | 38304940 | CAAG | C | conservative_inframe_deletion | MODERATE | HG00733.hp2 HG01106.hp2 HG01358.hp1 others(7): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0002a0005c0005t0002 | a0004c0004t0002g0003a0004c0004t0002g0004a0005c0005t0002g0001 | 10 | 406 | 0.0246 | -3 | c.304 others(10): Show |
p.Lys others(6): Show |
C19orf33 | ENSG00000167644.12 | transcript | ENST00000301246.10 | protein_coding | 4/4 | 315/374 | 304/321 | 102/106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| C2_chr6_31922717_31950672 | 31934288 | ATGGTGGA others(21): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG00323.hp2 HG01123.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0084a0004c0005t0001g0087 | 2 | 395 | 0.0051 | -28 | c.841 others(38): Show |
p.Val others(13): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 6/18 | 877/2610 | 841/2259 | 281/752 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| C6orf132_chr6_42096119_42147620 | 42104971 | ACTCCTC | A | conservative_inframe_deletion | MODERATE | HG00639.hp1 HG00733.hp1 HG00738.hp1 others(9): Show |
a0007a0011a0018 | a0007c0008a0011c0024a0011c0045others(1): Show | a0007c0008t0005a0011c0024t0004a0011c0045t0033others(1): Show | a0007c0008t0005g0160a0007c0008t0005g0175a0007c0008t0005g0176others(7): Show | 12 | 364 | 0.0330 | -6 | c.293 others(15): Show |
p.Glu others(13): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 4/5 | 3116/6385 | 2935/3567 | 979/1188 | chr6 | TogoVar | ||
| C9orf57_chr9_72046376_72065613 | 72059247 | CGAATAAG others(17): Show |
C | conservative_inframe_deletion | MODERATE | HG03098.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0199 | 1 | 450 | 0.0022 | -24 | c.61_ others(29): Show |
p.Arg others(11): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 2/5 | 254/1510 | 61/420 | 21/139 | chr9 | TogoVar | ||
| CABLES1_chr18_23130485_23265470 | 23136050 | GGGCGCCG others(2): Show |
G | conservative_inframe_deletion | MODERATE | HG00438.hp1 HG00597.hp2 HG00673.hp1 others(57): Show |
a0002a0006 | a0002c0002a0002c0005a0006c0013 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(15): Show | a0002c0002t0001g0083a0002c0002t0001g0089a0002c0002t0001g0113others(57): Show | 60 | 278 | 0.2158 | -9 | c.295 others(16): Show |
p.Gly others(12): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/10 | 573/5283 | 295/1902 | 99/633 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
| CACNA1A_chr19_13201442_13511479 | 13207858 | CCTG | C | conservative_inframe_deletion | MODERATE | HG00438.hp1 HG00639.hp1 HG01192.hp2 others(30): Show |
a0003a0010a0016others(4): Show | a0003c0013a0003c0015a0003c0035others(23): Show | a0003c0013t0007a0003c0013t0018a0003c0013t0027others(28): Show | a0003c0013t0007g0041a0003c0013t0018g0063a0003c0013t0027g0149others(30): Show | 33 | 218 | 0.1514 | -3 | c.697 others(12): Show |
p.Gln others(7): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6973/7521 | 2325/2506 | chr19 | TogoVar | ||
| CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTG | C | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(86): Show |
a0001a0005a0011others(9): Show | a0001c0001a0001c0004a0001c0005others(42): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(62): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(86): Show | 89 | 218 | 0.4083 | -6 | c.697 others(15): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6970/7521 | 2324/2506 | chr19 | TogoVar | ||
| CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG02280.hp2 NA19043.hp1 |
a0020a0044 | a0020c0074a0020c0078a0044c0112 | a0020c0074t0012a0020c0078t0019a0044c0112t0012 | a0020c0074t0012g0161a0020c0078t0019g0151a0044c0112t0012g0206 | 3 | 218 | 0.0138 | -9 | c.696 others(18): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6967/7521 | 2323/2506 | chr19 | TogoVar | ||
| CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG02647.hp2 | a0042 | a0042c0097 | a0042c0097t0005 | a0042c0097t0005g0059 | 1 | 218 | 0.0046 | -12 | c.696 others(21): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6964/7521 | 2322/2506 | chr19 | TogoVar | ||
| CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(8): Show |
C | conservative_inframe_deletion | MODERATE | HG04204.hp2 | a0039 | a0039c0068 | a0039c0068t0001 | a0039c0068t0001g0171 | 1 | 218 | 0.0046 | -15 | c.696 others(24): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6961/7521 | 2321/2506 | chr19 | TogoVar | ||
| CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(11): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(13): Show |
a0004a0019a0024others(4): Show | a0004c0007a0004c0047a0004c0080others(9): Show | a0004c0007t0001a0004c0007t0004a0004c0007t0009others(12): Show | a0004c0007t0001g0049a0004c0007t0001g0114a0004c0007t0004g0105others(13): Show | 16 | 218 | 0.0734 | -18 | c.695 others(27): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6958/7521 | 2320/2506 | chr19 | TogoVar | ||
| CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(20): Show |
C | conservative_inframe_deletion | MODERATE | NA18968.hp1 | a0035 | a0035c0057 | a0035c0057t0020 | a0035c0057t0020g0002 | 1 | 218 | 0.0046 | -27 | c.694 others(36): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6949/7521 | 2317/2506 | chr19 | TogoVar | ||
| CACNA1B_chr9_137872782_138129619 | 138023718 | TGGAGAAG others(8): Show |
T | conservative_inframe_deletion | MODERATE | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
a0001a0007a0008others(8): Show | a0001c0002a0001c0003a0001c0005others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(56): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(127): Show | 130 | 248 | 0.5242 | -15 | c.298 others(24): Show |
p.Thr others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/47 | 3138/9792 | 2986/7020 | 996/2339 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CACNG6_chr19_53986637_54017666 | 53992916 | GCGGCGGG others(11): Show |
G | conservative_inframe_deletion | MODERATE | HG02602.hp2 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0321 | 1 | 430 | 0.0023 | -18 | c.46_ others(23): Show |
p.Gly others(11): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 1/4 | 1287/2501 | 46/783 | 16/260 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| CALCOCO2_chr17_48826035_48870245 | 48852574 | GTTAGAGC others(23): Show |
G | conservative_inframe_deletion | MODERATE | NA18947.hp2 | a0005 | a0005c0007 | a0005c0007t0008 | a0005c0007t0008g0013 | 1 | 328 | 0.0031 | -30 | c.772 others(37): Show |
p.Leu others(13): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 8/13 | 826/3635 | 772/1341 | 258/446 | chr17 | TogoVar | ||
| CALM1_chr14_90392029_90413268 | 90404357 | AACAATTG others(17): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA19001.hp1 | a0002 | a0002c0003 | a0002c0003t0046 | a0002c0003t0046g0090 | 1 | 408 | 0.0025 | -24 | c.286 others(34): Show |
p.Asp others(11): Show |
CALM1 | ENSG00000198668.14 | transcript | ENST00000356978.9 | protein_coding | 5/6 | 286/450 | 96/149 | chr14 | TogoVar | |||
| CAPN14_chr2_31168056_31222515 | 31199529 | TCTC | T | conservative_inframe_deletion others(1): Show |
MODERATE | NA18963.hp2 NA18979.hp2 NA18999.hp1 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0002 | a0011c0016t0002g0034a0011c0016t0002g0042a0011c0016t0002g0043others(1): Show | 4 | 326 | 0.0123 | -3 | c.727 others(10): Show |
p.Glu others(6): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 7/22 | 841/3792 | 727/2055 | 243/684 | chr2 | TogoVar | ||
| CARD10_chr22_37485362_37524415 | 37510301 | GCTCCTT | G | conservative_inframe_deletion | MODERATE | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(102): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0003a0001c0006others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(15): Show | a0001c0002t0001g0203a0001c0002t0002g0005a0001c0002t0002g0006others(95): Show | 105 | 276 | 0.3804 | -6 | c.814 others(13): Show |
p.Lys others(13): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/20 | 1034/4111 | 814/3099 | 272/1032 | chr22 | TogoVar | ||
| CARD10_chr22_37485362_37524415 | 37510301 | GCTCCTTC others(5): Show |
G | conservative_inframe_deletion | MODERATE | HG00621.hp1 | a0018 | a0018c0044 | a0018c0044t0002 | a0018c0044t0002g0155 | 1 | 276 | 0.0036 | -12 | c.808 others(19): Show |
p.Lys others(13): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/20 | 1034/4111 | 808/3099 | 270/1032 | chr22 | TogoVar | ||
| CARMIL2_chr16_67640144_67662569 | 67652328 | GAGA | G | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG02145.hp1 HG02602.hp2 others(4): Show |
a0002a0012 | a0002c0003a0012c0017 | a0002c0003t0001a0012c0017t0001 | a0002c0003t0001g0011a0002c0003t0001g0077a0002c0003t0001g0078others(1): Show | 7 | 282 | 0.0248 | -3 | c.280 others(12): Show |
p.Lys others(6): Show |
CARMIL2 | ENSG00000159753.15 | transcript | ENST00000334583.11 | protein_coding | 27/38 | 2912/4462 | 2809/4308 | 937/1435 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| CBLL2_chrX_22267913_22279461 | 22273806 | CTCA | C | conservative_inframe_deletion | MODERATE | HG00438.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0000 | 1 | 346 | 0.0029 | -3 | c.820 others(10): Show |
p.His others(6): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1/1 | 899/1549 | 820/1278 | 274/425 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CBX4_chr17_79828156_79844440 | 79834441 | CGTGGTGG others(2): Show |
C | conservative_inframe_deletion | MODERATE | NA18979.hp1 NA18994.hp2 NA19066.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0036a0004c0006t0001g0124 | 3 | 420 | 0.0071 | -9 | c.119 others(18): Show |
p.His others(13): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 5/5 | 1389/2675 | 1192/1683 | 398/560 | chr17 | TogoVar | ||
| CC2D2A_chr4_15464882_15606552 | 15511381 | GGAA | G | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG01070.hp2 HG01109.hp2 others(8): Show |
a0003 | a0003c0007a0003c0010 | a0003c0007t0002a0003c0010t0002 | a0003c0007t0002g0159a0003c0007t0002g0160a0003c0007t0002g0161others(8): Show | 11 | 344 | 0.0320 | -3 | c.685 others(10): Show |
p.Glu others(6): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 8/37 | 879/5184 | 685/4863 | 229/1620 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| CCDC137_chr17_81661737_81678899 | 81672586 | TGGA | T | conservative_inframe_deletion | MODERATE | HG01358.hp2 HG02055.hp1 HG02559.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0016a0004c0004t0004g0018a0004c0004t0004g0019others(1): Show | 7 | 412 | 0.0170 | -3 | c.760 others(10): Show |
p.Glu others(6): Show |
CCDC137 | ENSG00000185298.13 | transcript | ENST00000329214.13 | protein_coding | 6/6 | 790/2095 | 760/870 | 254/289 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| CCDC157_chr22_30352007_30383673 | 30372245 | AAGG | A | conservative_inframe_deletion | MODERATE | HG01891.hp2 HG02055.hp1 HG02922.hp2 |
a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0019a0006c0011t0002g0078 | 3 | 440 | 0.0068 | -3 | c.129 others(12): Show |
p.Glu others(6): Show |
CCDC157 | ENSG00000187860.11 | transcript | ENST00000338306.8 | protein_coding | 7/12 | 1588/4478 | 1297/2259 | 433/752 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| CCDC157_chr22_30352007_30383673 | 30376487 | CCAGCCCT others(17): Show |
C | conservative_inframe_deletion | MODERATE | HG00741.hp2 HG01496.hp1 HG03471.hp1 others(4): Show |
a0005a0009a0021 | a0005c0009a0009c0012a0021c0028 | a0005c0009t0001a0009c0012t0004a0021c0028t0001 | a0005c0009t0001g0051a0005c0009t0001g0155a0005c0009t0001g0170others(3): Show | 7 | 440 | 0.0159 | -24 | c.206 others(33): Show |
p.Pro others(13): Show |
CCDC157 | ENSG00000187860.11 | transcript | ENST00000338306.8 | protein_coding | 12/12 | 2359/4478 | 2068/2259 | 690/752 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| CCDC168_chr13_102724367_102764072 | 102729732 | GGAAACAA others(14): Show |
G | conservative_inframe_deletion | MODERATE | NA19059.hp1 | a0047 | a0047c0085 | a0047c0085t0001 | a0047c0085t0001g0122 | 1 | 360 | 0.0028 | -21 | c.209 others(32): Show |
p.Ser others(15): Show |
CCDC168 | ENSG00000175820.4 | transcript | ENST00000322527.4 | protein_coding | 4/4 | 21104/21470 | 20944/21246 | 6982/7081 | chr13 | TogoVar | ||
| CCDC168_chr13_102724367_102764072 | 102747525 | AAGACCCC others(5): Show |
A | conservative_inframe_deletion | MODERATE | NA19059.hp2 | a0076 | a0076c0109 | a0076c0109t0001 | a0076c0109t0001g0242 | 1 | 360 | 0.0028 | -12 | c.316 others(21): Show |
p.Ala others(15): Show |
CCDC168 | ENSG00000175820.4 | transcript | ENST00000322527.4 | protein_coding | 4/4 | 3311/21470 | 3160/21246 | 1054/7081 | chr13 | TogoVar | ||
| CCDC33_chr15_74231326_74341141 | 74244059 | TAAG | T | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(78): Show |
a0003a0004a0009others(7): Show | a0003c0002a0003c0030a0004c0004others(11): Show | a0003c0002t0001a0003c0002t0002a0003c0002t0005others(14): Show | a0003c0002t0001g0117a0003c0002t0001g0118a0003c0002t0001g0119others(78): Show | 81 | 288 | 0.2813 | -3 | c.100 others(10): Show |
p.Lys others(5): Show |
CCDC33 | ENSG00000140481.15 | transcript | ENST00000398814.8 | protein_coding | 2/19 | 494/2750 | 100/2268 | 34/755 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| CCNL1_chr3_157142553_157165147 | 157159983 | CCGTCGTG others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG02257.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0101 | 1 | 426 | 0.0024 | -12 | c.100 others(19): Show |
p.Thr others(11): Show |
CCNL1 | ENSG00000163660.12 | transcript | ENST00000295926.8 | protein_coding | 1/11 | 164/2322 | 100/1581 | 34/526 | chr3 | TogoVar | ||
| CD101_chr1_116996760_117041552 | 117034068 | GAGGGAAG others(26): Show |
G | stop_lost others(1): Show |
HIGH | HG02683.hp2 | a0000 | a0000c0041 | a0000c0041t0001 | a0000c0041t0001g0252 | 1 | 426 | 0.0024 | -33 | c.303 others(40): Show |
p.Arg others(21): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 9/10 | 3093/3542 | 3035/3066 | 1012/1021 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CD209_chr19_7734993_7752534 | 7745812 | AGGTCAGC others(62): Show |
A | conservative_inframe_deletion | MODERATE | HG01934.hp2 HG03471.hp1 NA18522.hp1 |
a0005 | a0005c0005 | a0005c0005t0018 | a0005c0005t0018g0023 | 3 | 454 | 0.0066 | -69 | c.385 others(76): Show |
p.Arg others(13): Show |
CD209 | ENSG00000090659.18 | transcript | ENST00000315599.12 | protein_coding | 4/7 | 476/4284 | 385/1215 | 129/404 | chr19 | TogoVar | ||
| CD36_chr7_80633642_80684274 | 80673381 | ATATTGTG others(5): Show |
A | conservative_inframe_deletion | MODERATE | HG00544.hp1 NA19090.hp1 |
a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0087a0005c0006t0013g0108 | 2 | 392 | 0.0051 | -12 | c.122 others(21): Show |
p.Ile others(13): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 13/15 | 1516/4598 | 1228/1419 | 410/472 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |