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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9093580 | CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0013a0014 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show |
50 | 330 | 0.1515 | -5 | c.212 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
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 | |||
ABCB5_chr7_20610667_20762008 | 20626612 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(67): Show |
a0002a0003a0005others(10): Show | a0002c0003a0003c0002a0003c0010others(13): Show | a0002c0003t0001a0003c0002t0001a0003c0002t0002others(19): Show | a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 others(67): Show |
70 | 358 | 0.1955 | 0 | c.108 others(5): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ACTL7B_chr9_108849588_108860986 | 108855929 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG01069.hp2 others(17): Show |
a0002 | a0002c0005a0002c0009 | a0002c0005t0001a0002c0009t0001 | a0002c0005t0001g0000 a0002c0009t0001g0000 |
20 | 468 | 0.0427 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 1/1 | 58/1399 | 2/1248 | 1/415 | chr9 | TogoVar | |||
ACYP2_chr2_53966113_54310300 | 54057304 | G | A | stop_gained | HIGH | HG00408.hp1 HG00438.hp2 HG01169.hp1 others(11): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0002a0002c0003t0005a0002c0005t0002 | a0002c0003t0002g0014 a0002c0003t0002g0017 a0002c0003t0002g0018 others(11): Show |
14 | 270 | 0.0519 | 0 | c.221 others(3): Show |
p.Trp others(3): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/7 | 466/1262 | 221/519 | 74/172 | chr2 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3668985 | ATCTGGAC others(1): Show |
A | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show |
a0003a0005a0015others(3): Show | a0003c0003a0003c0039a0003c0042others(9): Show | a0003c0003t0007a0003c0003t0008a0003c0003t0032others(14): Show | a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 others(36): Show |
46 | 460 | 0.1000 | -8 | c.241 others(17): Show |
p.Gln others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 22/22 | 2425/3436 | 2412/2442 | 804/813 | chr20 | TogoVar | |||
ADHFE1_chr8_66427504_66473907 | 66445216 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 400 | 0.0025 | 0 | c.354 others(5): Show |
ADHFE1 | ENSG00000147576.17 | transcript | ENST00000396623.8 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
AGAP2_chr12_57720197_57743742 | 57737529 | C | CG | frameshift_variant | HIGH | HG00423.hp2 HG01109.hp1 HG01175.hp2 others(8): Show |
a0002 | a0002c0005a0002c0007a0002c0009 | a0002c0005t0001a0002c0005t0002a0002c0005t0013others(2): Show | a0002c0005t0001g0026 a0002c0005t0001g0054 a0002c0005t0001g0055 others(5): Show |
11 | 380 | 0.0289 | 1 | c.717 others(4): Show |
p.Ala others(5): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 1/19 | 1213/5430 | 717/3579 | 239/1192 | chr12 | TogoVar | |||
AKNAD1_chr1_108810901_108862094 | 108825266 | AAGATGAT others(4064): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0025 | a0004c0004a0004c0008a0004c0036others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0004t0001g0020 a0004c0004t0001g0031 a0004c0004t0001g0034 others(23): Show |
32 | 396 | 0.0808 | -4071 | c.183 others(19): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/16 | chr1 | 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 | ||||||
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 | |||
ANO9_chr11_412938_447011 | 429613 | C | CG | frameshift_variant | HIGH | HG00323.hp2 HG00741.hp1 HG01169.hp1 others(6): Show |
a0006a0010a0012 | a0006c0009a0006c0019a0010c0014others(1): Show | a0006c0009t0001a0006c0019t0001a0010c0014t0001others(1): Show | a0006c0009t0001g0125 a0006c0009t0001g0182 a0006c0009t0001g0183 others(6): Show |
9 | 284 | 0.0317 | 1 | c.871 others(4): Show |
p.Arg others(5): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 11/23 | 956/2867 | 871/2349 | 291/782 | chr11 | 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 | |||
ARFGAP1_chr20_63267813_63294790 | 63278938 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00621.hp1 HG00741.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0018 | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(8): Show |
12 | 340 | 0.0353 | 1 | c.572 others(4): Show |
p.Pro others(5): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 7/13 | 685/3250 | 573/1221 | 191/406 | INFO_REALIGN_3_PRIME | chr20 | 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 | ||
ARMS2_chr10_122449653_122462352 | 122454839 | C | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show |
61 | 422 | 0.1446 | 0 | c.112 others(3): Show |
p.Arg others(3): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 1/2 | 187/818 | 112/324 | 38/107 | chr10 | 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 | |||
ATP4A_chr19_35545031_35568658 | 35563432 | A | AC | frameshift_variant | HIGH | HG01175.hp2 HG01346.hp2 HG01952.hp1 others(8): Show |
a0003 | a0003c0006a0003c0011a0003c0016others(3): Show | a0003c0006t0001a0003c0011t0002a0003c0016t0001others(3): Show | a0003c0006t0001g0071 a0003c0006t0001g0073 a0003c0006t0001g0074 others(7): Show |
11 | 424 | 0.0259 | 1 | c.107 others(4): Show |
p.Gly others(4): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 2/22 | 136/3721 | 107/3108 | 36/1035 | chr19 | 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 | |||
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 | |||||||
AXDND1_chr1_179360971_179559735 | 179534935 | G | T | stop_gained | HIGH | HG01257.hp1 HG01361.hp1 HG01952.hp2 others(1): Show |
a0011a0016 | a0011c0014a0016c0024 | a0011c0014t0001a0016c0024t0001 | a0011c0014t0001g0116 a0011c0014t0001g0121 a0011c0014t0001g0139 others(1): Show |
4 | 354 | 0.0113 | 0 | c.300 others(4): Show |
p.Glu others(5): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/26 | 3140/3391 | 3004/3039 | 1002/1012 | chr1 | TogoVar | |||
B4GALNT4_chr11_364499_387117 | 379511 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG01255.hp1 HG01952.hp2 others(7): Show |
a0005a0006a0007others(2): Show | a0005c0023a0006c0007a0007c0011others(2): Show | a0005c0023t0001a0006c0007t0001a0007c0011t0001others(2): Show | a0005c0023t0001g0125 a0006c0007t0001g0041 a0006c0007t0001g0122 others(7): Show |
10 | 182 | 0.0549 | 1 | c.230 others(5): Show |
p.Gly others(5): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 15/20 | 2609/3750 | 2304/3120 | 768/1039 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
BRD4_chr19_15230519_15337539 | 15238833 | T | TG | frameshift_variant | HIGH | HG01175.hp2 HG01496.hp1 HG01952.hp2 others(9): Show |
a0002a0003a0009 | a0002c0007a0003c0006a0003c0011others(2): Show | a0002c0007t0003a0002c0007t0033a0003c0006t0001others(6): Show | a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 others(9): Show |
12 | 206 | 0.0583 | 1 | c.392 others(5): Show |
p.Gln others(6): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 19/20 | 4213/7231 | 3929/4089 | 1310/1362 | chr19 | TogoVar | |||
BRD4_chr19_15230519_15337539 | 15244535 | C | CG | frameshift_variant | HIGH | HG00140.hp1 HG00639.hp2 HG00741.hp1 others(7): Show |
a0004a0005 | a0004c0005a0004c0021a0005c0014others(2): Show | a0004c0005t0001a0004c0005t0006a0004c0005t0009others(6): Show | a0004c0005t0001g0053 a0004c0005t0006g0150 a0004c0005t0009g0009 others(7): Show |
10 | 206 | 0.0485 | 1 | c.227 others(5): Show |
p.Pro others(5): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 13/20 | 2560/7231 | 2276/4089 | 759/1362 | chr19 | 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 | ||||||
BSCL2_chr11_62685275_62712424 | 62700548 | GGAGAATC others(3331): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01952.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0176 | 1 | 328 | 0.0030 | -3338 | c.405 others(17): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/11 | chr11 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32403192 | TG | T | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show |
a0003a0006 | a0003c0004a0003c0008a0003c0012others(3): Show | a0003c0004t0002a0003c0008t0001a0003c0012t0002others(3): Show | a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 others(35): Show |
69 | 452 | 0.1527 | -1 | c.451 others(4): Show |
p.His others(5): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 3/8 | 509/1564 | 451/1449 | 151/482 | chr6 | 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 | |||||||
C2CD4C_chr19_400445_414147 | 407718 | T | TC | frameshift_variant | HIGH | HG00642.hp2 HG00735.hp1 HG01099.hp1 others(10): Show |
a0002a0003 | a0002c0003a0003c0017 | a0002c0003t0001a0002c0003t0005a0002c0003t0008others(6): Show | a0002c0003t0001g0023 a0002c0003t0005g0043 a0002c0003t0008g0115 others(7): Show |
13 | 320 | 0.0406 | 1 | c.643 others(4): Show |
p.Glu others(5): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2/2 | 825/3099 | 643/1266 | 215/421 | chr19 | TogoVar | |||
CABLES2_chr20_62383634_62412285 | 62406982 | C | CG | frameshift_variant | HIGH | HG00735.hp2 HG01952.hp1 HG02155.hp1 others(6): Show |
a0005a0010 | a0005c0009a0005c0012a0005c0013others(2): Show | a0005c0009t0001a0005c0009t0023a0005c0012t0002others(3): Show | a0005c0009t0001g0055 a0005c0009t0001g0057 a0005c0009t0001g0058 others(6): Show |
9 | 398 | 0.0226 | 1 | c.294 others(4): Show |
p.Ala others(4): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/10 | 303/3783 | 294/1437 | 98/478 | chr20 | 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 | |||
CD300A_chr17_74461634_74489794 | 74473826 | C | T | stop_gained | HIGH | HG01952.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0204 | 1 | 422 | 0.0024 | 0 | c.331 others(3): Show |
p.Arg others(4): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 2/7 | 401/1638 | 331/900 | 111/299 | chr17 | 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 | ||||||
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 | 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 | ||
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(31): Show |
85 | 406 | 0.2094 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | 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 | |||
CMTM1_chr16_66561439_66584135 | 66566827 | T | TAAATGAG others(9): Show |
frameshift_variant others(1): Show |
HIGH | HG01256.hp2 HG01258.hp1 HG01358.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0012 | 5 | 396 | 0.0126 | 16 | c.318 others(23): Show |
p.Glu others(5): Show |
CMTM1 | ENSG00000089505.18 | transcript | ENST00000379500.7 | protein_coding | 1/4 | 409/1070 | 334/861 | 112/286 | INFO_REALIGN_3_PRIME | chr16 | 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 | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41953235 | G | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show |
a0001a0006a0010others(3): Show | a0001c0001a0001c0012a0001c0042others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(31): Show |
34 | 106 | 0.3208 | 0 | c.202 others(4): Show |
p.Cys others(4): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 13/24 | 2360/7652 | 2028/3867 | 676/1288 | chr9 | TogoVar | |||
COL6A2_chr21_46093112_46134801 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(17): Show | a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 others(80): Show |
100 | 367 | 0.2725 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 others(80): Show |
97 | 359 | 0.2702 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | 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 | |||
CROCC2_chr2_240901336_240998311 | 240932891 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01952.hp1 HG02559.hp2 others(6): Show |
a0011 | a0011c0019a0011c0038a0011c0042others(5): Show | a0011c0019t0001a0011c0038t0001a0011c0042t0002others(5): Show | a0011c0019t0001g0213 a0011c0019t0001g0223 a0011c0038t0001g0068 others(6): Show |
9 | 346 | 0.0260 | 1 | c.123 others(5): Show |
p.Trp others(5): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 9/32 | 1415/5370 | 1237/4962 | 413/1653 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show |
242 | 384 | 0.6302 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | |||
CXXC4_chr4_104463308_104499894 | 104491452 | A | AC | frameshift_variant | HIGH | HG01099.hp1 HG01243.hp1 HG01928.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0010 a0002c0002t0001g0041 a0002c0002t0001g0094 others(12): Show |
20 | 330 | 0.0606 | 1 | c.350 others(4): Show |
p.Gly others(5): Show |
CXXC4 | ENSG00000168772.12 | transcript | ENST00000394767.3 | protein_coding | 2/3 | 801/5569 | 350/1104 | 117/367 | chr4 | 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 |