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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0038others(11): Show | a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show |
73 | 430 | 0.1698 | 0 | c.39C others(2): Show |
p.Cys others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 106/4055 | 39/1224 | 13/407 | chr1 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69149049 | TGA | T | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show |
42 | 346 | 0.1214 | -2 | c.451 others(11): Show |
p.Gln others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 38/39 | 5072/6008 | 4515/4632 | 1505/1543 | chr17 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69153832 | G | A | stop_gained others(1): Show |
HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show |
42 | 346 | 0.1214 | 0 | c.396 others(4): Show |
p.Arg others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 32/39 | 4520/6008 | 3964/4632 | 1322/1543 | chr17 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69194395 | AACAG | A | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show |
42 | 346 | 0.1214 | -4 | c.133 others(13): Show |
p.Ser others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 12/39 | 1890/6008 | 1331/4632 | 444/1543 | chr17 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63862607 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show |
a0003a0005 | a0003c0003a0003c0016a0005c0007 | a0003c0003t0001a0003c0016t0001a0005c0007t0001 | a0003c0003t0001g0000 a0003c0016t0001g0000 a0005c0007t0001g0000 |
18 | 396 | 0.0455 | 1 | c.107 others(5): Show |
p.Val others(5): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1115/1491 | 1072/1410 | 358/469 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
ACOT8_chr20_45836721_45862392 | 45857313 | C | CATCT | frameshift_variant others(1): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG02165.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0034 others(3): Show |
11 | 420 | 0.0262 | 4 | c.-2_ others(8): Show |
p.Met others(3): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 1/6 | 79/1154 | 2/960 | 1/319 | chr20 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90756446 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(41): Show |
a0001a0005a0014others(16): Show | a0001c0001a0001c0008a0005c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(20): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(41): Show |
44 | 156 | 0.2821 | 1 | c.115 others(8): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 55/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AKR1C8_chr10_5148920_5190150 | 5159943 | GTGATTGA others(229): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005 a0003c0004t0002g0009 a0003c0004t0002g0010 others(27): Show |
43 | 406 | 0.1059 | -236 | c.457 others(11): Show |
p.Ala others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/9 | 564/1247 | 457/981 | 153/326 | chr10 | 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 | ||||||
ANKRD36_chr2_97108153_97269521 | 97188507 | GGTGAGAG others(1883): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show |
a0002a0007a0013others(4): Show | a0002c0002a0007c0007a0007c0027others(5): Show | a0002c0002t0001a0007c0007t0001a0007c0007t0006others(6): Show | a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0133 others(44): Show |
47 | 209 | 0.2249 | -1890 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97208387 | GTTGTAAC others(29496): Show |
G | exon_loss_variant | HIGH | HG00558.hp2 NA18952.hp1 NA18961.hp2 others(5): Show |
a0006a0032 | a0006c0006a0032c0038 | a0006c0006t0001a0032c0038t0001 | a0006c0006t0001g0084 a0006c0006t0001g0086 a0006c0006t0001g0087 others(5): Show |
8 | 210 | 0.0381 | -29503 | c.326 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 55/76 | INFO_REALIGN_3_PRIME | chr2 | 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 | |||
APOL4_chr22_36184128_36206809 | 36201698 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0028a0002c0002t0002others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0055 others(27): Show |
58 | 432 | 0.1343 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
ARL9_chr4_56500791_56529453 | 56505976 | TAAAC | T | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0004a0003c0007t0001 | a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 others(39): Show |
61 | 414 | 0.1473 | -4 | c.118 others(11): Show |
p.Gln others(4): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 190/1447 | 118/798 | 40/265 | INFO_REALIGN_3_PRIME | chr4 | 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 | |||
ATAT1_chr6_30621874_30651821 | 30642841 | A | AC | frameshift_variant | HIGH | HG00738.hp1 HG00741.hp2 HG01109.hp2 others(13): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0005t0001 | a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0005 others(11): Show |
16 | 404 | 0.0396 | 1 | c.805 others(4): Show |
p.Arg others(5): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 10/13 | 818/1456 | 806/1266 | 269/421 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
AVPI1_chr10_97672424_97692241 | 97679916 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
101 | 444 | 0.2275 | 0 | c.-10 others(5): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/2 | chr10 | TogoVar | |||||||
BRIX1_chr5_34910711_34930996 | 34925223 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(14): Show |
50 | 436 | 0.1147 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5057216 | AACAGAGT others(4189): Show |
A | exon_loss_variant | HIGH | HG01255.hp1 NA18612.hp2 NA18945.hp2 others(7): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0001 | a0003c0004t0001g0033 a0003c0004t0001g0125 a0003c0004t0001g0131 others(6): Show |
10 | 429 | 0.0233 | -4196 | c.359 others(16): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 4/8 | chr16 | TogoVar | |||||||
C17orf107_chr17_4894536_4907934 | 4900042 | AACCGAAG | A | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp2 HG02071.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0008 | a0003c0003t0001g0001 a0003c0003t0008g0001 |
14 | 440 | 0.0318 | -7 | c.175 others(14): Show |
p.Pro others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 2/3 | 402/3201 | 175/573 | 59/190 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
C17orf80_chr17_73227433_73253959 | 73242352 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00544.hp1 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 a0001c0002t0002g0095 |
2 | 382 | 0.0052 | 0 | c.162 others(6): Show |
C17orf80 | ENSG00000141219.16 | transcript | ENST00000535032.7 | protein_coding | 4/5 | chr17 | 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 | ||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(7): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00609.hp2 HG00738.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0190 others(21): Show |
24 | 108 | 0.2222 | 14 | c.121 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CALHM6_chr6_116456375_116468771 | 116462456 | T | G | splice_donor_variant others(1): Show |
HIGH | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(16): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 a0003c0003t0001g0025 a0003c0003t0001g0028 |
19 | 438 | 0.0434 | 0 | c.525 others(5): Show |
CALHM6 | ENSG00000188820.13 | transcript | ENST00000368605.3 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
CBY2_chr13_45697320_45719559 | 45713882 | C | A | stop_gained | HIGH | HG00140.hp2 HG00597.hp2 HG01928.hp1 others(33): Show |
a0003 | a0003c0003a0003c0015a0003c0019 | a0003c0003t0001a0003c0015t0001a0003c0019t0001 | a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 others(6): Show |
36 | 438 | 0.0822 | 0 | c.857 others(3): Show |
p.Ser others(4): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 928/1605 | 857/1347 | 286/448 | chr13 | TogoVar | |||
CCDC121_chr2_27620638_27634012 | 27627592 | G | A | stop_gained | HIGH | NA18954.hp2 NA18957.hp2 NA18981.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 7 | 382 | 0.0183 | 0 | c.208 others(3): Show |
p.Arg others(3): Show |
CCDC121 | ENSG00000176714.10 | transcript | ENST00000324364.4 | protein_coding | 2/2 | 389/2343 | 208/837 | 70/278 | chr2 | TogoVar | |||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show |
260 | 360 | 0.7222 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | 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 | |||
CD40_chr20_46113314_46134858 | 46128304 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show |
118 | 339 | 0.3481 | 2 | c.647 others(13): 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 | 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 | |||
CGB1_chr19_49030569_49041895 | 49035611 | T | G | stop_lost | HIGH | HG01243.hp1 HG01433.hp1 HG01884.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0010a0001c0004t0004a0002c0003t0004others(3): Show | a0001c0001t0010g0035 a0001c0004t0004g0009 a0002c0003t0004g0015 others(3): Show |
18 | 374 | 0.0481 | 0 | c.467 others(3): Show |
p.Ter others(11): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 3/3 | 651/693 | 467/468 | 156/155 | chr19 | TogoVar | |||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0014others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show |
175 | 482 | 0.3631 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | |||
CLASRP_chr19_45034045_45075956 | 45064224 | C | CT | frameshift_variant others(1): Show |
HIGH | HG02886.hp2 HG02970.hp2 NA18963.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0023 a0003c0003t0001g0090 a0003c0003t0001g0108 others(3): Show |
6 | 362 | 0.0166 | 1 | c.111 others(10): Show |
p.Arg others(5): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 12/21 | 1212/2229 | 1119/2025 | 373/674 | chr19 | 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 | ||||||
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 | ||||||
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 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0016a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show |
275 | 343 | 0.8017 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74782719 | AGGTGAGT others(40): Show |
A | splice_donor_variant others(2): Show |
HIGH | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0052 | 1 | 392 | 0.0026 | -47 | c.-66 others(59): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show |
411 | 446 | 0.9215 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | |||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show |
268 | 454 | 0.5903 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | |||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0006t0001others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show |
232 | 458 | 0.5066 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show |
56 | 139 | 0.4029 | 1 | c.733 others(6): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0006a0007a0011others(81): Show | a0006c0214a0006c0262a0006c0266others(98): Show | a0006c0214t0006a0006c0262t0001a0006c0266t0005others(99): Show | a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 others(104): Show |
107 | 296 | 0.3615 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 1/82 | 307/14343 | 100/13551 | 34/4516 | chr7 | TogoVar | |||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 others(194): Show |
212 | 372 | 0.5699 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | |||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005 | a0002c0002a0002c0007a0002c0009others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show |
114 | 426 | 0.2676 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show |
114 | 288 | 0.3958 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 110011233 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0014a0017 | a0003c0003a0014c0015a0017c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002 a0003c0003t0005g0003 a0003c0003t0005g0019 others(43): Show |
47 | 386 | 0.1218 | 1 | c.340 others(5): Show |
p.Gln others(6): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 24/24 | 3860/6388 | 3407/3624 | 1136/1207 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |