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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||||
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 | ||
ACSM2A_chr16_20446521_20492669 | 20465682 | C | T | stop_gained | HIGH | HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show |
a0006 | a0006c0006a0006c0016 | a0006c0006t0002a0006c0006t0003a0006c0006t0009others(2): Show | a0006c0006t0002g0015 a0006c0006t0002g0040 a0006c0006t0002g0256 others(27): Show |
34 | 434 | 0.0783 | 0 | c.343 others(3): Show |
p.Arg others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 512/2894 | 343/1734 | 115/577 | chr16 | TogoVar | |||
ADGRA2_chr8_37791883_37849896 | 37841784 | C | CG | frameshift_variant | HIGH | HG00408.hp2 HG00673.hp1 HG01192.hp1 others(10): Show |
a0004a0006 | a0004c0011a0004c0015a0006c0019others(4): Show | a0004c0011t0001a0004c0015t0001a0006c0019t0001others(4): Show | a0004c0011t0001g0041 a0004c0011t0001g0073 a0004c0011t0001g0306 others(10): Show |
13 | 368 | 0.0353 | 1 | c.345 others(5): Show |
p.Ala others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 19/19 | 3838/6944 | 3452/4017 | 1151/1338 | INFO_REALIGN_3_PRIME | chr8 | 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 | ||||||
AEBP1_chr7_44099345_44119560 | 44112970 | TCTGTATC others(14): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19082.hp2 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0042 | 1 | 424 | 0.0024 | -21 | c.257 others(33): Show |
p.Thr others(5): Show |
AEBP1 | ENSG00000106624.11 | transcript | ENST00000223357.8 | protein_coding | 19/21 | 2570/3477 | 857/1158 | chr7 | TogoVar | ||||
AEBP1_chr7_44099345_44119560 | 44113703 | C | CGGGGGGG others(9): Show |
frameshift_variant | HIGH | NA19082.hp2 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0042 | 1 | 424 | 0.0024 | 16 | c.292 others(25): Show |
p.Ala others(5): Show |
AEBP1 | ENSG00000106624.11 | transcript | ENST00000223357.8 | protein_coding | 21/21 | 3245/4097 | 2924/3477 | 975/1158 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 49988768 | A | AC | frameshift_variant | HIGH | HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show |
a0003 | a0003c0003a0003c0014a0003c0031 | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(3): Show | a0003c0003t0003g0013 a0003c0003t0003g0019 a0003c0003t0003g0020 others(24): Show |
39 | 404 | 0.0965 | 1 | c.55d others(3): Show |
p.Gln others(4): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 366/2684 | 56/2061 | 19/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 50008914 | CAA | C | frameshift_variant | HIGH | HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show |
a0003 | a0003c0003a0003c0014a0003c0031 | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(3): Show | a0003c0003t0003g0013 a0003c0003t0003g0019 a0003c0003t0003g0020 others(24): Show |
39 | 404 | 0.0965 | -2 | c.791 others(9): Show |
p.Lys others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 8/8 | 1101/2684 | 791/2061 | 264/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
ALLC_chr2_3653200_3707671 | 3681636 | A | T | stop_gained others(1): Show |
HIGH | NA19082.hp2 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0160 | 1 | 272 | 0.0037 | 0 | c.301 others(3): Show |
p.Lys others(4): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 6/12 | 458/1441 | 301/1176 | 101/391 | chr2 | 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 | |||
ANKRD30B_chr18_14743172_14859667 | 14814633 | G | GCTCTCTT others(10879): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp2 | a0042 | a0042c0058 | a0042c0058t0002 | a0042c0058t0002g0046 | 1 | 22 | 0.0455 | 10886 | c.258 others(10895): Show |
p.Gly others(5): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 30/44 | 2830/5335 | 2582/4578 | 861/1525 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0010a0004c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(55): Show |
64 | 396 | 0.1616 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
APOBR_chr16_28489643_28503964 | 28496129 | CCGGGACA others(19): Show |
C | frameshift_variant | HIGH | NA19082.hp1 | a0030 | a0030c0055 | a0030c0055t0001 | a0030c0055t0001g0001 | 1 | 404 | 0.0025 | -26 | c.109 others(35): Show |
p.Gly others(5): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 1129/3792 | 1090/3294 | 364/1097 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
APOBR_chr16_28489643_28503964 | 28496912 | G | A | stop_gained | HIGH | NA19082.hp2 | a0031 | a0031c0031 | a0031c0031t0002 | a0031c0031t0002g0001 | 1 | 404 | 0.0025 | 0 | c.187 others(4): Show |
p.Trp others(4): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 1910/3792 | 1871/3294 | 624/1097 | chr16 | 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 | |||
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 | |||
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 | |||
ATP7B_chr13_51927669_52016450 | 51941080 | C | T | splice_donor_variant others(1): Show |
HIGH | NA19082.hp1 | a0003 | a0003c0005 | a0003c0005t0012 | a0003c0005t0012g0021 | 1 | 300 | 0.0033 | 0 | c.355 others(6): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 16/20 | chr13 | TogoVar | |||||||
C1QTNF9_chr13_24304580_24327531 | 24318877 | C | T | stop_gained | HIGH | NA18974.hp1 NA18985.hp2 NA18989.hp1 others(2): Show |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0002 a0009c0009t0001g0034 a0009c0009t0001g0184 |
5 | 464 | 0.0108 | 0 | c.226 others(3): Show |
p.Arg others(3): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 3/4 | 285/1824 | 226/1002 | 76/333 | chr13 | TogoVar | |||
C3orf49_chr3_63814299_63853636 | 63831135 | C | CACACT | frameshift_variant | HIGH | HG00621.hp2 HG00673.hp2 HG02027.hp2 others(17): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0027 a0003c0003t0001g0043 others(11): Show |
20 | 386 | 0.0518 | 5 | c.597 others(12): Show |
p.Phe others(5): Show |
C3orf49 | ENSG00000163632.15 | transcript | ENST00000295896.13 | protein_coding | 4/7 | 775/1355 | 602/879 | 201/292 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
CABIN1_chr22_24006304_24183628 | 24113620 | ACTTCTTT others(6): Show |
A | frameshift_variant | HIGH | NA19082.hp1 | a0015 | a0015c0021 | a0015c0021t0001 | a0015c0021t0001g0173 | 1 | 266 | 0.0038 | -13 | c.417 others(22): Show |
p.Phe others(6): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 27/37 | 4312/7233 | 4174/6663 | 1392/2220 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
CBX6_chr22_38856422_38877216 | 38866655 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG01358.hp1 HG02055.hp1 others(9): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0076 a0002c0002t0002g0130 a0002c0002t0003g0068 others(8): Show |
12 | 404 | 0.0297 | 1 | c.792 others(4): Show |
p.Ala others(5): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 5/5 | 818/6052 | 792/1239 | 264/412 | chr22 | TogoVar | |||
CCDC138_chr2_108781771_108881578 | 108788018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show |
79 | 217 | 0.3641 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC163_chr1_45488866_45505073 | 45499365 | AGATACAG others(58): Show |
A | frameshift_variant | HIGH | NA18944.hp1 NA18969.hp1 NA18971.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0013 a0003c0003t0006g0061 a0003c0003t0006g0062 others(1): Show |
10 | 406 | 0.0246 | -65 | c.92_ others(71): Show |
p.Pro others(4): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/5 | 620/2095 | 92/438 | 31/145 | chr1 | TogoVar | |||
CDY1_chrY_25617117_25629902 | 25622628 | GA | G | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | -1 | c.192 others(4): Show |
p.Lys others(4): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 518/2366 | 192/1665 | 64/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
CDY1_chrY_25617117_25629902 | 25622917 | CT | C | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | -1 | c.477 others(4): Show |
p.Glu others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 803/2366 | 477/1665 | 159/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
CDY1_chrY_25617117_25629902 | 25623461 | T | TC | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | 1 | c.102 others(5): Show |
p.Phe others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 1347/2366 | 1021/1665 | 341/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
CDY1_chrY_25617117_25629902 | 25623510 | TA | T | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | -1 | c.107 others(5): Show |
p.Asn others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 1396/2366 | 1070/1665 | 357/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
CDY1_chrY_25617117_25629902 | 25623722 | G | GT | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | 1 | c.128 others(5): Show |
p.Ser others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 1609/2366 | 1283/1665 | 428/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
CDY1_chrY_25617117_25629902 | 25624473 | TA | T | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | -1 | c.161 others(5): Show |
p.Ala others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 2/2 | 1940/2366 | 1614/1665 | 538/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071270 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(19): Show |
45 | 414 | 0.1087 | 1 | c.177 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1799/2381 | 1777/2262 | 593/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG01243.hp1 HG04115.hp2 HG04228.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(3): Show |
8 | 409 | 0.0196 | -32 | c.194 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | 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 | ||
CFAP65_chr2_218997846_219046516 | 219021144 | CTAGGTAC others(20): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0039 | a0039c0027 | a0039c0027t0001 | a0039c0027t0001g0208 | 1 | 320 | 0.0031 | -27 | c.324 others(38): Show |
p.Tyr others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3240/5778 | 1080/1925 | chr2 | TogoVar | ||||
CFAP65_chr2_218997846_219046516 | 219021206 | T | A | stop_gained | HIGH | NA19082.hp1 | a0039 | a0039c0027 | a0039c0027t0001 | a0039c0027t0001g0208 | 1 | 320 | 0.0031 | 0 | c.320 others(4): Show |
p.Lys others(5): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3282/5946 | 3205/5778 | 1069/1925 | chr2 | TogoVar | |||
CFAP65_chr2_218997846_219046516 | 219021254 | T | TGCAGGGA others(3): Show |
frameshift_variant | HIGH | NA19082.hp1 | a0039 | a0039c0027 | a0039c0027t0001 | a0039c0027t0001g0208 | 1 | 320 | 0.0031 | 10 | c.315 others(19): Show |
p.Ser others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3233/5946 | 3156/5778 | 1052/1925 | chr2 | TogoVar | |||
CHRM1_chr11_62903679_62926363 | 62910396 | A | AC | frameshift_variant | HIGH | HG00639.hp2 HG01099.hp2 HG01106.hp2 others(12): Show |
a0002 | a0002c0004a0002c0007 | a0002c0004t0001a0002c0004t0003a0002c0007t0001 | a0002c0004t0001g0058 a0002c0004t0001g0064 a0002c0004t0001g0088 others(12): Show |
15 | 418 | 0.0359 | 1 | c.704 others(4): Show |
p.Gly others(5): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 2/2 | 928/2646 | 704/1383 | 235/460 | chr11 | TogoVar | |||
CLUH_chr17_2684387_2716764 | 2698290 | GGGCCGTG others(19): Show |
G | frameshift_variant | HIGH | NA19082.hp1 | a0018 | a0018c0026 | a0018c0026t0001 | a0018c0026t0001g0079 | 1 | 418 | 0.0024 | -26 | c.154 others(35): Show |
p.Asp others(5): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 10/26 | 1669/5357 | 1541/4047 | 514/1348 | chr17 | 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 | ||||||
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 | ||||||
CPT1C_chr19_49686116_49718731 | 49705086 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00735.hp2 others(14): Show |
a0002a0004 | a0002c0003a0002c0005a0004c0007 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(3): Show | a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0221 others(14): Show |
17 | 348 | 0.0489 | 1 | c.853 others(4): Show |
p.Arg others(5): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 9/20 | 1162/2846 | 854/2412 | 285/803 | INFO_REALIGN_3_PRIME | chr19 | 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 | ||||||
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 | |||
CTSW_chr11_65874837_65888741 | 65883507 | G | C | splice_acceptor_variant others(1): Show |
HIGH | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 364 | 0.0027 | 0 | c.102 others(6): Show |
CTSW | ENSG00000172543.9 | transcript | ENST00000307886.8 | protein_coding | 9/9 | chr11 | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146814392 | TCTTTAGG others(8): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA19082.hp1 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0006 | 1 | 264 | 0.0038 | -15 | c.133 others(24): Show |
p.Gly others(11): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 2/2 | 162/449 | 133/327 | 45/108 | chrX | TogoVar |