view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA10_chr17_69143007_69233824 | 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 | |||
ABCA8_chr17_68862289_68960392 | 68876704 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 272 | 0.0037 | 0 | c.420 others(6): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 33/39 | chr17 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48170219 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 |
2 | 156 | 0.0128 | 0 | c.377 others(6): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 27/29 | chr16 | TogoVar | |||||||
ACBD7_chr10_15070475_15093776 | 15078605 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0145 |
2 | 424 | 0.0047 | 0 | c.194 others(5): Show |
ACBD7 | ENSG00000176244.7 | transcript | ENST00000356189.6 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
ADGRE1_chr19_6882579_6945450 | 6921702 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show |
a0004a0006a0007others(24): Show | a0004c0004a0006c0006a0007c0007others(24): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(40): Show | a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 others(86): Show |
91 | 336 | 0.2708 | 1 | c.162 others(7): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr19 | 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 | |||||||
ALG1L2_chr3_130076831_130103390 | 130096091 | GC | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show |
a0002a0003a0004 | a0002c0002a0002c0004a0002c0007others(6): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0002others(8): Show | a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 others(27): Show |
51 | 260 | 0.1962 | -1 | c.469 others(4): Show |
p.Leu others(5): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/8 | 655/969 | 469/648 | 157/215 | INFO_REALIGN_3_PRIME | chr3 | 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 | ||||||
ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(138): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(119): Show |
141 | 370 | 0.3811 | 0 | c.143 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 13/14 | 1621/2575 | 1439/1587 | 480/528 | chr5 | TogoVar | |||
ANKRD1_chr10_90907096_90926087 | 90915587 | G | A | stop_gained | HIGH | HG01433.hp1 | a0005 | a0005c0008 | a0005c0008t0009 | a0005c0008t0009g0110 | 1 | 466 | 0.0021 | 0 | c.805 others(3): Show |
p.Arg others(4): Show |
ANKRD1 | ENSG00000148677.7 | transcript | ENST00000371697.4 | protein_coding | 8/9 | 865/1790 | 805/960 | 269/319 | chr10 | 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 | |||
ARL13B_chr3_93975155_94060678 | 94043038 | G | GA | frameshift_variant | HIGH | HG00438.hp2 HG00733.hp2 HG01175.hp1 others(14): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0003t0006a0003c0006t0001 | a0003c0003t0001g0037 a0003c0003t0001g0044 a0003c0003t0001g0089 others(14): Show |
17 | 261 | 0.0651 | 1 | c.830 others(4): Show |
p.Asn others(5): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/10 | 1100/3971 | 831/1287 | 277/428 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ARL9_chr4_56500791_56529453 | 56506057 | CAA | C | frameshift_variant | HIGH | HG00323.hp1 HG00735.hp1 HG00741.hp1 others(6): Show |
a0006 | a0006c0006a0006c0012 | a0006c0006t0001a0006c0012t0001 | a0006c0006t0001g0013 a0006c0006t0001g0151 a0006c0006t0001g0187 others(4): Show |
9 | 414 | 0.0217 | -2 | c.197 others(9): Show |
p.Lys others(4): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 269/1447 | 197/798 | 66/265 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show |
113 | 402 | 0.2811 | 0 | c.-98 others(6): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show |
173 | 352 | 0.4915 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | 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 | |||
ASDURF_chr2_189656459_189671401 | 189666109 | T | C | stop_lost | HIGH | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 338 | 0.0030 | 0 | c.289 others(3): Show |
p.Ter others(10): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 4/4 | 351/643 | 289/291 | 97/96 | chr2 | TogoVar | |||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show |
a0002 | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show |
151 | 438 | 0.3447 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | TogoVar | |||
C11orf86_chr11_66970304_66982009 | 66975627 | C | CG | frameshift_variant | HIGH | HG00642.hp2 HG01358.hp2 HG01433.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 |
11 | 326 | 0.0337 | 1 | c.267 others(4): Show |
p.Tyr others(4): Show |
C11orf86 | ENSG00000173237.5 | transcript | ENST00000683896.1 | protein_coding | 1/2 | 327/1168 | 268/351 | 90/116 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show |
405 | 412 | 0.9830 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | |||||||
C17orf107_chr17_4894536_4907934 | 4900416 | G | A | stop_gained | HIGH | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show |
94 | 440 | 0.2136 | 0 | c.456 others(3): Show |
p.Trp others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 3/3 | 683/3201 | 456/573 | 152/190 | chr17 | TogoVar | |||
C2orf42_chr2_70144885_70196019 | 70165549 | G | GT | frameshift_variant | HIGH | HG00597.hp2 HG00741.hp1 HG01109.hp1 others(12): Show |
a0003a0005 | a0003c0003a0003c0007a0005c0009 | a0003c0003t0001a0003c0007t0001a0005c0009t0001 | a0003c0003t0001g0016 a0003c0003t0001g0060 a0003c0003t0001g0077 others(12): Show |
15 | 344 | 0.0436 | 1 | c.123 others(5): Show |
p.Arg others(5): Show |
C2orf42 | ENSG00000115998.8 | transcript | ENST00000264434.7 | protein_coding | 7/10 | 1558/2524 | 1230/1725 | 410/574 | chr2 | TogoVar | |||
CAPN15_chr16_522712_559636 | 536144 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0018 a0001c0001t0001g0359 a0001c0001t0001g0361 others(41): Show |
46 | 408 | 0.1127 | 0 | c.-23 others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show |
176 | 390 | 0.4513 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
CBARP_chr19_1223287_1243005 | 1233478 | G | GACCTTGA others(13): Show |
frameshift_variant | HIGH | HG01433.hp2 | a0011 | a0011c0027 | a0011c0027t0001 | a0011c0027t0001g0122 | 1 | 406 | 0.0025 | 20 | c.907 others(27): Show |
p.Lys others(5): Show |
CBARP | ENSG00000099625.14 | transcript | ENST00000650044.2 | protein_coding | 8/10 | 1197/3281 | 926/2118 | 309/705 | chr19 | TogoVar | |||
CBS_chr21_43048191_43080835 | 43063074 | A | ATGATCTG others(61): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show |
a0002a0008 | a0002c0003a0008c0015 | a0002c0003t0001a0002c0003t0003a0002c0003t0004others(2): Show | a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 others(26): Show |
40 | 297 | 0.1347 | 68 | c.832 others(75): Show |
p.Ile others(5): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/17 | 982/2495 | 832/1656 | 278/551 | chr21 | TogoVar | |||
CCDC7_chr10_32441140_32887864 | 32518506 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show |
a0001a0019 | a0001c0002a0019c0017 | a0001c0002t0001a0019c0017t0001 | a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 others(44): Show |
47 | 366 | 0.1284 | 0 | c.993 others(5): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 12/43 | chr10 | 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 | |||
CCNL2_chr1_1380711_1404335 | 1398672 | CTAGAG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0042 others(34): Show |
52 | 368 | 0.1413 | -5 | c.289 others(16): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 1/10 | chr1 | 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 | ||||||
CD40_chr20_46113314_46134858 | 46128304 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG02145.hp1 HG03927.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 others(6): Show |
15 | 236 | 0.0636 | 3 | c.647 others(14): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51329814 | A | AG | frameshift_variant | HIGH | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(43): Show |
a0001 | a0001c0004a0001c0007a0001c0009 | a0001c0004t0002a0001c0007t0002a0001c0009t0002 | a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 others(14): Show |
46 | 404 | 0.1139 | 1 | c.628 others(4): Show |
p.Leu others(5): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 7/8 | 669/953 | 628/777 | 210/258 | chr12 | TogoVar | |||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | |||
CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG01099.hp1 HG01106.hp1 HG01433.hp1 others(17): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show |
20 | 408 | 0.0490 | -32 | c.184 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071465 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | HG01433.hp2 HG01934.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 414 | 0.0048 | -98 | c.196 others(107): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071501 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(49): Show |
a0001a0002a0014 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(21): Show |
52 | 409 | 0.1271 | 1 | c.200 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show |
181 | 409 | 0.4425 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
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 | |||
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 | ||||||
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 | ||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001a0004a0010others(4): Show | a0001c0002a0001c0011a0001c0014others(7): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(17): Show | a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 others(55): Show |
135 | 438 | 0.3082 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | |||
CPNE1_chr20_35621044_35669900 | 35627312 | C | CA | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 others(40): Show |
46 | 270 | 0.1704 | 1 | c.120 others(5): Show |
p.Ala others(5): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 14/16 | 1344/1952 | 1203/1614 | 401/537 | chr20 | 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 | ||||||
CSN1S1_chr4_69926068_69951574 | 69934121 | TCAAAAAT others(1246): Show |
T | exon_loss_variant | HIGH | HG01433.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0054 | 1 | 446 | 0.0022 | -1253 | c.52- others(13): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88467364 | TA | T | frameshift_variant | HIGH | HG00280.hp1 HG00639.hp1 HG01167.hp2 others(4): Show |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0283 a0005c0007t0002g0301 a0005c0007t0002g0315 others(4): Show |
7 | 384 | 0.0182 | -1 | c.200 others(5): Show |
p.Lys others(5): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2467/2695 | 2009/2205 | 670/734 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |