| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10_chr17_69143007_69233824 | 69149049 | TGA | T | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | 0.1207 | -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 | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | 0.1207 | 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 | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | 0.1207 | -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 | ||
| ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | ||
| AGAP3_chr7_151081475_151149434 | 151086813 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 0.9718 | 1 | c.73d others(3): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151086821 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.81d others(3): Show |
p.Gln others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151086831 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.91d others(3): Show |
p.Val others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP6_chr10_49983406_50015499 | 49988921 | AC | A | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00733.hp1 others(17): Show |
a0004 | a0004c0004a0004c0026a0004c0027 | a0004c0004t0004a0004c0026t0004a0004c0027t0011 | a0004c0004t0004g0004a0004c0004t0004g0042a0004c0004t0004g0043others(9): Show | 20 | 406 | 0.0493 | -1 | c.208 others(4): Show |
p.Arg others(4): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 518/2684 | 208/2061 | 70/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| ALDOC_chr17_28568120_28581895 | 28575419 | A | G | splice_donor_variant others(1): Show |
HIGH | NA18989.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0013 | 1 | 352 | 0.0028 | 0 | c.112 others(5): Show |
ALDOC | ENSG00000109107.14 | transcript | ENST00000226253.9 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| ALDOC_chr17_28568120_28581895 | 28575451 | T | A | stop_gained | HIGH | NA18989.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0013 | 1 | 352 | 0.0028 | 0 | c.82A others(2): Show |
p.Lys others(3): Show |
ALDOC | ENSG00000109107.14 | transcript | ENST00000226253.9 | protein_coding | 2/9 | 189/1608 | 82/1095 | 28/364 | chr17 | TogoVar | ||
| ALDOC_chr17_28568120_28581895 | 28575531 | A | C | start_lost | HIGH | NA18989.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0013 | 1 | 352 | 0.0028 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ALDOC | ENSG00000109107.14 | transcript | ENST00000226253.9 | protein_coding | 2/9 | 109/1608 | 2/1095 | 1/364 | chr17 | TogoVar | ||
| ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(122): Show | 142 | 372 | 0.3817 | 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 | ||
| ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0002c0001t0010a0004c0007t0001 | a0002c0001t0001g0001a0002c0001t0001g0009a0002c0001t0001g0015others(58): Show | 64 | 408 | 0.1569 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| APBA3_chr19_3745772_3766692 | 3760243 | G | A | stop_gained | HIGH | NA18977.hp2 NA18989.hp2 NA19065.hp1 |
a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0055a0006c0011t0002g0086a0006c0011t0002g0087 | 3 | 450 | 0.0067 | 0 | c.22C others(2): Show |
p.Arg others(2): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 2/11 | 216/2176 | 22/1728 | 8/575 | chr19 | 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 | a0002c0002t0002g0007a0002c0002t0002g0009a0002c0002t0002g0011others(74): Show | 129 | 434 | 0.2972 | -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 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0031others(30): Show | 58 | 434 | 0.1336 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
| ARAF_chrX_47556205_47576908 | 47567237 | T | TG | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0003 | 1 | 318 | 0.0031 | 1 | c.885 others(4): Show |
p.Tyr others(5): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 10/16 | 992/2378 | 886/1821 | 296/606 | INFO_REALIGN_3_PRIME | chrX | 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 | a0003c0003t0001g0003a0003c0003t0001g0016a0003c0003t0001g0018others(4): Show | 61 | 424 | 0.1439 | 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 | ||
| ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0019others(42): Show | 114 | 404 | 0.2822 | 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(28): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(163): Show | 173 | 362 | 0.4779 | -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(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 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 | ||
| ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BCOR_chrX_40046251_40102958 | 40062278 | T | TG | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | 1 | c.428 others(5): Show |
p.Gln others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 10/15 | 5072/6910 | 4288/5268 | 1430/1755 | chrX | TogoVar | ||
| BCOR_chrX_40046251_40102958 | 40062821 | T | TGTATG | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | 5 | c.409 others(14): Show |
p.Lys others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 9/15 | 4881/6910 | 4097/5268 | 1366/1755 | chrX | TogoVar | ||
| BCOR_chrX_40046251_40102958 | 40062867 | G | GT | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | 1 | c.405 others(5): Show |
p.Thr others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 9/15 | 4835/6910 | 4051/5268 | 1351/1755 | chrX | TogoVar | ||
| BCOR_chrX_40046251_40102958 | 40063054 | C | CG | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | 1 | c.386 others(5): Show |
p.Gly others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 9/15 | 4648/6910 | 3864/5268 | 1288/1755 | chrX | TogoVar | ||
| BCOR_chrX_40046251_40102958 | 40063670 | GC | G | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | -1 | c.378 others(5): Show |
p.Ala others(6): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 8/15 | 4568/6910 | 3784/5268 | 1262/1755 | chrX | TogoVar | ||
| BCOR_chrX_40046251_40102958 | 40073153 | T | TG | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | 1 | c.219 others(5): Show |
p.His others(5): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4/15 | 2976/6910 | 2192/5268 | 731/1755 | chrX | TogoVar | ||
| BCOR_chrX_40046251_40102958 | 40073705 | C | CA | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | 1 | c.164 others(5): Show |
p.Met others(5): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4/15 | 2424/6910 | 1640/5268 | 547/1755 | chrX | TogoVar | ||
| BCOR_chrX_40046251_40102958 | 40073711 | C | CG | frameshift_variant | HIGH | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | 1 | c.163 others(5): Show |
p.Arg others(5): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4/15 | 2418/6910 | 1634/5268 | 545/1755 | chrX | TogoVar | ||
| BPY2_chrY_22979263_23010465 | 22992357 | TC | T | frameshift_variant | HIGH | NA18989.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0031 | 1 | 52 | 0.0192 | -1 | c.18d others(3): Show |
p.Arg others(3): Show |
BPY2 | ENSG00000183753.10 | transcript | ENST00000331070.8 | protein_coding | 4/9 | 350/1206 | 18/321 | 6/106 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
| BST1_chr4_15698065_15737787 | 15722935 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18949.hp2 NA18989.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0238 | 3 | 442 | 0.0068 | 0 | c.851 others(5): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
| BTNL2_chr6_32388339_32412181 | 32394744 | C | A | stop_gained others(1): Show |
HIGH | HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0001a0004c0003t0003g0015a0004c0003t0003g0042others(10): Show | 45 | 453 | 0.0993 | 0 | c.136 others(4): Show |
p.Glu others(4): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1418/1564 | 1360/1449 | 454/482 | chr6 | TogoVar | ||
| BTNL2_chr6_32388339_32412181 | 32403192 | TG | T | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show |
a0003a0006a0009others(1): Show | a0003c0004a0003c0008a0003c0021others(3): Show | a0003c0004t0002a0003c0008t0001a0003c0021t0002others(3): Show | a0003c0004t0002g0044a0003c0004t0002g0070a0003c0004t0002g0071others(35): Show | 69 | 453 | 0.1523 | -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 | ||
| C12orf60_chr12_14798670_14829415 | 14823483 | CTA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003a0002c0002t0001g0008a0002c0002t0001g0012others(9): Show | 68 | 388 | 0.1753 | -2 | c.550 others(9): Show |
p.Met others(5): Show |
C12orf60 | ENSG00000182993.5 | transcript | ENST00000330828.3 | protein_coding | 2/2 | 656/1586 | 550/738 | 184/245 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | ||||||
| C1QTNF9_chr13_24304580_24327531 | 24318877 | C | T | stop_gained | HIGH | NA18974.hp1 NA18985.hp2 NA18989.hp1 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0001a0008c0009t0001g0035a0008c0009t0001g0187 | 5 | 466 | 0.0107 | 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 | ||
| C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(98): Show | 157 | 372 | 0.4220 | 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(13): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp2 HG01981.hp2 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0011a0001c0002t0058 | a0001c0001t0009g0160a0001c0001t0011g0055a0001c0002t0058g0159 | 3 | 200 | 0.0150 | 20 | c.121 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CARD8_chr19_48203086_48260912 | 48238382 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0192 | 1 | 362 | 0.0028 | 0 | c.209 others(5): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 5/13 | chr19 | TogoVar | ||||||
| CBARP_chr19_1223287_1243005 | 1229727 | C | CG | frameshift_variant | HIGH | HG01496.hp1 HG02056.hp1 HG02602.hp2 others(8): Show |
a0000 | a0000c0008a0000c0009a0000c0012others(1): Show | a0000c0008t0001a0000c0008t0004a0000c0009t0002others(4): Show | a0000c0008t0001g0081a0000c0008t0001g0111a0000c0008t0004g0113others(7): Show | 11 | 408 | 0.0270 | 1 | c.156 others(5): Show |
p.Ala others(5): Show |
CBARP | ENSG00000099625.14 | transcript | ENST00000650044.2 | protein_coding | 10/10 | 1840/3281 | 1569/2118 | 523/705 | chr19 | TogoVar | ||
| CD207_chr2_70825211_70840816 | 70835707 | G | A | stop_gained | HIGH | NA18940.hp1 NA18944.hp1 NA18961.hp2 others(5): Show |
a0008 | a0008c0017a0008c0019a0008c0036 | a0008c0017t0002a0008c0019t0001a0008c0036t0001 | a0008c0017t0002g0023a0008c0019t0001g0053a0008c0019t0001g0127others(1): Show | 8 | 444 | 0.0180 | 0 | c.70C others(2): Show |
p.Arg others(3): Show |
CD207 | ENSG00000116031.9 | transcript | ENST00000410009.5 | protein_coding | 1/6 | 110/1866 | 70/987 | 24/328 | chr2 | 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(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | 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 |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 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 | ||
| CHRDL2_chr11_74691429_74736426 | 74713457 | C | CG | frameshift_variant | HIGH | HG00558.hp2 HG02027.hp2 NA18972.hp2 others(6): Show |
a0002 | a0002c0010a0002c0011a0002c0012others(3): Show | a0002c0010t0001a0002c0010t0002a0002c0011t0001others(5): Show | a0002c0010t0001g0071a0002c0010t0002g0335a0002c0011t0001g0132others(6): Show | 9 | 392 | 0.0230 | 1 | c.217 others(4): Show |
p.Arg others(4): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 3/11 | 755/1908 | 217/1290 | 73/429 | chr11 | TogoVar | ||
| CHRNA10_chr11_3660587_3676384 | 3669794 | A | C | splice_donor_variant others(1): Show |
HIGH | NA18956.hp2 NA18989.hp2 |
a0001a0007 | a0001c0001a0007c0019 | a0001c0001t0001a0007c0019t0001 | a0001c0001t0001g0047a0007c0019t0001g0054 | 2 | 450 | 0.0044 | 0 | c.207 others(5): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
| CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(135): Show | 138 | 218 | 0.6330 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | 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 | a0001c0001t0001g0035a0001c0001t0001g0114a0001c0001t0001g0155others(80): Show | 100 | 372 | 0.2688 | 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 | a0001c0001t0001g0036a0001c0001t0001g0114a0001c0002t0001g0322others(80): Show | 97 | 364 | 0.2665 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COPB1_chr11_14452512_14504811 | 14498987 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA18964.hp2 NA18966.hp1 NA18989.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351a0001c0001t0001g0352a0001c0001t0001g0353others(5): Show | 8 | 386 | 0.0207 | 0 | c.-57 others(5): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 1/21 | chr11 | TogoVar |