| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NPIPB13_chr16_30217897_30253479 | 30224206 | T | TCGGCAGG others(106): Show |
frameshift_variant | HIGH | HG02683.hp2 HG03834.hp2 |
a0035a0049 | a0035c0062a0049c0021 | a0035c0062t0005a0049c0021t0001 | a0035c0062t0005g0109a0049c0021t0001g0040 | 2 | 145 | 0.0138 | 113 | c.223 others(122): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4982/6292 | 2239/3417 | 747/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224206 | T | TCGGCAGG others(1486): Show |
frameshift_variant | HIGH | NA19240.hp1 | a0022 | a0022c0024 | a0022c0024t0001 | a0022c0024t0001g0057 | 1 | 145 | 0.0069 | 1493 | c.223 others(1502): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4982/6292 | 2239/3417 | 747/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224220 | C | CGGCAGGT others(226): Show |
frameshift_variant others(1): Show |
HIGH | HG02683.hp2 | a0049 | a0049c0021 | a0049c0021t0001 | a0049c0021t0001g0040 | 1 | 145 | 0.0069 | 233 | c.222 others(242): Show |
p.Val others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4968/6292 | 2225/3417 | 742/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224453 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG01099.hp2 | a0059 | a0059c0073 | a0059c0073t0002 | a0059c0073t0002g0132 | 1 | 145 | 0.0069 | -19 | c.197 others(28): Show |
p.Val others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4735/6292 | 1974/3417 | 658/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224458 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG02683.hp2 | a0049 | a0049c0021 | a0049c0021t0001 | a0049c0021t0001g0040 | 1 | 145 | 0.0069 | 13 | c.197 others(22): Show |
p.Gly others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4730/6292 | 1987/3417 | 663/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224580 | GCGGAATC others(12): Show |
G | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(6): Show |
a0007a0013a0015others(3): Show | a0007c0017a0007c0072a0007c0074others(5): Show | a0007c0017t0002a0007c0072t0002a0007c0074t0003others(5): Show | a0007c0017t0002g0124a0007c0017t0002g0133a0007c0072t0002g0125others(6): Show | 9 | 145 | 0.0621 | -19 | c.184 others(28): Show |
p.Leu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4608/6292 | 1847/3417 | 616/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224598 | CAGCAGGT others(100): Show |
C | frameshift_variant | HIGH | HG01099.hp2 | a0059 | a0059c0073 | a0059c0073t0002 | a0059c0073t0002g0132 | 1 | 145 | 0.0069 | -107 | c.174 others(9): Show |
p.Phe others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4590/6292 | 1741/3417 | 581/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224705 | A | AGCGGCCC others(12): Show |
frameshift_variant | HIGH | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(7): Show |
a0007a0013a0015others(4): Show | a0007c0017a0007c0072a0007c0074others(6): Show | a0007c0017t0002a0007c0072t0002a0007c0074t0003others(6): Show | a0007c0017t0002g0124a0007c0017t0002g0133a0007c0072t0002g0125others(7): Show | 10 | 145 | 0.0690 | 19 | c.174 others(28): Show |
p.Phe others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4483/6292 | 1740/3417 | 580/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224706 | G | GCGGAATC others(12): Show |
frameshift_variant | HIGH | HG02683.hp1 | a0047 | a0047c0055 | a0047c0055t0002 | a0047c0055t0002g0117 | 1 | 145 | 0.0069 | 19 | c.173 others(28): Show |
p.Phe others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4482/6292 | 1739/3417 | 580/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224812 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG02683.hp1 | a0047 | a0047c0055 | a0047c0055t0002 | a0047c0055t0002g0117 | 1 | 145 | 0.0069 | -19 | c.161 others(28): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4376/6292 | 1615/3417 | 539/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224831 | C | CGGCAGGT others(226): Show |
frameshift_variant | HIGH | HG02683.hp2 | a0049 | a0049c0021 | a0049c0021t0001 | a0049c0021t0001g0040 | 1 | 145 | 0.0069 | 233 | c.161 others(242): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4357/6292 | 1614/3417 | 538/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224884 | GGAGTGAG others(121): Show |
G | frameshift_variant | HIGH | NA18992.hp1 | a0051 | a0051c0051 | a0051c0051t0003 | a0051c0051t0003g0096 | 1 | 145 | 0.0069 | -128 | c.143 others(9): Show |
p.Leu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4304/6292 | 1434/3417 | 478/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30225303 | C | CGCTGAGG others(201): Show |
frameshift_variant | HIGH | HG01255.hp2 | a0014 | a0014c0030 | a0014c0030t0002 | a0014c0030t0002g0121 | 1 | 145 | 0.0069 | 208 | c.114 others(217): Show |
p.Asp others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3885/6292 | 1142/3417 | 381/1138 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11927872 | ATTCTGAC others(36): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02886.hp1 HG02976.hp2 HG03017.hp2 others(7): Show |
a0001a0002 | a0001c0013a0002c0009a0002c0019 | a0001c0013t0000a0002c0009t0000a0002c0019t0000 | a0001c0013t0000g0046a0001c0013t0000g0047a0001c0013t0000g0048others(5): Show | 10 | 414 | 0.0242 | -43 | c.688 others(53): Show |
p.Val others(5): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 694/1194 | 688/1194 | 230/397 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(34): Show | a0001c0001t0000a0001c0003t0000a0001c0004t0000others(34): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0006others(328): Show | 397 | 414 | 0.9589 | -2 | c.386 others(9): Show |
p.His others(5): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/8 | 387/1194 | 386/1194 | 129/397 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835126 | CCCCCGCA others(762): Show |
C | frameshift_variant | HIGH | HG00544.hp2 | a0040 | a0040c0039 | a0040c0039t0001 | a0040c0039t0001g0124 | 1 | 204 | 0.0049 | -769 | c.249 others(9): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3475/4020 | 2492/3669 | 831/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835391 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG02451.hp2 | a0049 | a0049c0043 | a0049c0043t0001 | a0049c0043t0001g0011 | 1 | 204 | 0.0049 | -113 | c.288 others(9): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3210/4020 | 2883/3669 | 961/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835442 | AGGGGAGT others(372): Show |
A | frameshift_variant | HIGH | NA18999.hp1 | a0064 | a0064c0091 | a0064c0091t0001 | a0064c0091t0001g0086 | 1 | 204 | 0.0049 | -379 | c.256 others(9): Show |
p.Leu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3159/4020 | 2566/3669 | 856/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835504 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(8): Show |
a0008a0016a0053others(2): Show | a0008c0007a0016c0020a0053c0092others(2): Show | a0008c0007t0001a0016c0020t0001a0053c0092t0001others(2): Show | a0008c0007t0001g0001a0008c0007t0001g0078a0008c0007t0001g0081others(7): Show | 11 | 204 | 0.0539 | 13 | c.287 others(22): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3097/4020 | 2882/3669 | 961/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835517 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG01934.hp1 HG01975.hp1 HG02559.hp2 others(4): Show |
a0013a0029a0060others(2): Show | a0013c0018a0013c0074a0029c0028others(3): Show | a0013c0018t0001a0013c0074t0001a0029c0028t0001others(3): Show | a0013c0018t0001g0075a0013c0018t0001g0076a0013c0074t0001g0055others(4): Show | 7 | 204 | 0.0343 | -113 | c.275 others(9): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3084/4020 | 2757/3669 | 919/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835630 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00544.hp1 HG00741.hp1 HG01255.hp1 others(12): Show |
a0004a0028a0030others(1): Show | a0004c0004a0004c0027a0004c0089others(3): Show | a0004c0004t0001a0004c0027t0001a0004c0089t0001others(3): Show | a0004c0004t0001g0105a0004c0004t0001g0129a0004c0004t0001g0146others(12): Show | 15 | 204 | 0.0735 | 13 | c.274 others(22): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2971/4020 | 2756/3669 | 919/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835643 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG03453.hp2 NA18747.hp1 NA18964.hp1 others(1): Show |
a0019a0061a0084 | a0019c0026a0061c0087a0084c0063 | a0019c0026t0001a0061c0087t0001a0084c0063t0001 | a0019c0026t0001g0007a0019c0026t0001g0094a0061c0087t0001g0092others(1): Show | 4 | 204 | 0.0196 | -113 | c.263 others(9): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2958/4020 | 2631/3669 | 877/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835688 | GGTGGAAG others(258): Show |
G | frameshift_variant | HIGH | HG01975.hp1 | a0082 | a0082c0079 | a0082c0079t0001 | a0082c0079t0001g0080 | 1 | 204 | 0.0049 | -265 | c.243 others(9): Show |
p.Thr others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2913/4020 | 2434/3669 | 812/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835756 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG02015.hp1 HG03688.hp1 others(2): Show |
a0051a0057a0059others(2): Show | a0051c0080a0057c0058a0059c0090others(2): Show | a0051c0080t0001a0057c0058t0001a0059c0090t0001others(2): Show | a0051c0080t0001g0084a0057c0058t0001g0182a0059c0090t0001g0099others(2): Show | 5 | 204 | 0.0245 | 13 | c.261 others(22): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2845/4020 | 2630/3669 | 877/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835814 | GGTGGAAG others(132): Show |
G | frameshift_variant | HIGH | HG02630.hp2 | a0078 | a0078c0048 | a0078c0048t0001 | a0078c0048t0001g0009 | 1 | 204 | 0.0049 | -139 | c.243 others(9): Show |
p.Thr others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2787/4020 | 2434/3669 | 812/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835882 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(38): Show |
a0004a0008a0013others(18): Show | a0004c0004a0004c0027a0004c0089others(21): Show | a0004c0004t0001a0004c0027t0001a0004c0089t0001others(21): Show | a0004c0004t0001g0105a0004c0004t0001g0129a0004c0004t0001g0146others(37): Show | 41 | 204 | 0.2010 | -13 | c.249 others(22): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2719/4020 | 2492/3669 | 831/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835895 | T | TCGGCAGG others(106): Show |
frameshift_variant | HIGH | HG00140.hp1 | a0062 | a0062c0055 | a0062c0055t0001 | a0062c0055t0001g0115 | 1 | 204 | 0.0049 | 113 | c.249 others(122): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2706/4020 | 2491/3669 | 831/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836142 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(10): Show |
a0008a0013a0029others(3): Show | a0008c0007a0013c0018a0013c0074others(4): Show | a0008c0007t0001a0013c0018t0001a0013c0074t0001others(4): Show | a0008c0007t0001g0001a0008c0007t0001g0078a0008c0007t0001g0081others(9): Show | 13 | 204 | 0.0637 | -19 | c.222 others(28): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2459/4020 | 2226/3669 | 742/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836147 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG02258.hp2 NA18964.hp2 |
a0081a0088 | a0081c0047a0088c0098 | a0081c0047t0001a0088c0098t0001 | a0081c0047t0001g0184a0088c0098t0001g0097 | 2 | 204 | 0.0098 | 13 | c.222 others(22): Show |
p.Gly others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2454/4020 | 2239/3669 | 747/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836161 | C | CAGCAGGT others(100): Show |
frameshift_variant others(1): Show |
HIGH | HG03927.hp2 | a0055 | a0055c0057 | a0055c0057t0001 | a0055c0057t0001g0130 | 1 | 204 | 0.0049 | 107 | c.222 others(116): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2440/4020 | 2225/3669 | 742/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836177 | ATTATCAT others(352): Show |
A | frameshift_variant | HIGH | HG03831.hp1 | a0054 | a0054c0056 | a0054c0056t0001 | a0054c0056t0001g0180 | 1 | 204 | 0.0049 | -359 | c.185 others(9): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2424/4020 | 1851/3669 | 617/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836268 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp1 HG01255.hp1 others(16): Show |
a0004a0019a0028others(4): Show | a0004c0004a0004c0027a0004c0089others(6): Show | a0004c0004t0001a0004c0027t0001a0004c0089t0001others(6): Show | a0004c0004t0001g0105a0004c0004t0001g0129a0004c0004t0001g0146others(16): Show | 19 | 204 | 0.0931 | -19 | c.210 others(28): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2333/4020 | 2100/3669 | 700/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836287 | C | CAGCAGGT others(100): Show |
frameshift_variant others(1): Show |
HIGH | HG02015.hp1 | a0057 | a0057c0058 | a0057c0058t0001 | a0057c0058t0001g0182 | 1 | 204 | 0.0049 | 107 | c.209 others(116): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2314/4020 | 2099/3669 | 700/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836303 | ATTATCAT others(226): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(8): Show |
a0008a0013a0029others(1): Show | a0008c0007a0013c0018a0013c0074others(2): Show | a0008c0007t0001a0013c0018t0001a0013c0074t0001others(2): Show | a0008c0007t0001g0001a0008c0007t0001g0078a0008c0007t0001g0081others(7): Show | 11 | 204 | 0.0539 | -233 | c.185 others(9): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2298/4020 | 1851/3669 | 617/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836395 | GCGGAATC others(12): Show |
G | frameshift_variant | HIGH | HG03710.hp1 | a0051 | a0051c0080 | a0051c0080t0001 | a0051c0080t0001g0084 | 1 | 204 | 0.0049 | -19 | c.197 others(28): Show |
p.Leu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2206/4020 | 1973/3669 | 658/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836413 | CAGCAGGT others(100): Show |
C | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp1 HG01255.hp1 others(17): Show |
a0004a0019a0030others(5): Show | a0004c0004a0004c0027a0004c0089others(7): Show | a0004c0004t0001a0004c0027t0001a0004c0089t0001others(7): Show | a0004c0004t0001g0105a0004c0004t0001g0129a0004c0004t0001g0146others(17): Show | 20 | 204 | 0.0980 | -107 | c.186 others(9): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2188/4020 | 1867/3669 | 623/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836520 | A | AGCGGCCC others(12): Show |
frameshift_variant | HIGH | HG02015.hp1 HG02258.hp2 HG03710.hp1 others(2): Show |
a0051a0055a0056others(2): Show | a0051c0080a0055c0057a0056c0086others(2): Show | a0051c0080t0001a0055c0057t0001a0056c0086t0001others(2): Show | a0051c0080t0001g0084a0055c0057t0001g0130a0056c0086t0001g0197others(2): Show | 5 | 204 | 0.0245 | 19 | c.186 others(28): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2081/4020 | 1866/3669 | 622/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836520 | A | AGCGGCCC others(81): Show |
frameshift_variant | HIGH | NA18906.hp1 | a0028 | a0028c0030 | a0028c0030t0001 | a0028c0030t0001g0068 | 1 | 204 | 0.0049 | 88 | c.186 others(97): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2081/4020 | 1866/3669 | 622/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836753 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG02258.hp2 | a0081 | a0081c0047 | a0081c0047t0001 | a0081c0047t0001g0184 | 1 | 204 | 0.0049 | -19 | c.161 others(28): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1848/4020 | 1615/3669 | 539/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836879 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | NA18964.hp2 | a0088 | a0088c0098 | a0088c0098t0001 | a0088c0098t0001g0097 | 1 | 204 | 0.0049 | -19 | c.148 others(28): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1722/4020 | 1489/3669 | 497/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21837324 | G | GTGAGCAC others(30): Show |
frameshift_variant | HIGH | HG00621.hp2 | a0046 | a0046c0040 | a0046c0040t0001 | a0046c0040t0001g0122 | 1 | 204 | 0.0049 | 37 | c.106 others(46): Show |
p.Leu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1277/4020 | 1062/3669 | 354/1222 | chr16 | TogoVar | ||
| NPIPB5_chr16_22505891_22541535 | 22534043 | G | GCGGATGA others(30): Show |
frameshift_variant | HIGH | HG01981.hp2 | a0031 | a0031c0035 | a0031c0035t0008 | a0031c0035t0008g0013 | 1 | 47 | 0.0213 | 37 | c.106 others(46): Show |
p.Leu others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3973/6463 | 1062/3402 | 354/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB5_chr16_22505891_22541535 | 22534710 | C | CCGAGCGT others(12): Show |
frameshift_variant | HIGH | HG00621.hp1 HG01496.hp1 HG02040.hp2 others(1): Show |
a0016a0022a0029others(1): Show | a0016c0006a0022c0029a0029c0003others(1): Show | a0016c0006t0016a0022c0029t0002a0029c0003t0010others(1): Show | a0016c0006t0016g0039a0022c0029t0002g0006a0029c0003t0010g0043others(1): Show | 4 | 47 | 0.0851 | 19 | c.172 others(28): Show |
p.Phe others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB5_chr16_22505891_22541535 | 22534711 | CTTCCACC others(97): Show |
C | frameshift_variant | HIGH | HG02155.hp1 | a0026 | a0026c0022 | a0026c0022t0009 | a0026c0022t0009g0002 | 1 | 47 | 0.0213 | -104 | c.172 others(9): Show |
p.Phe others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | chr16 | TogoVar | ||
| NPIPB5_chr16_22505891_22541535 | 22534814 | CTGAGCGT others(12): Show |
C | frameshift_variant | HIGH | HG01496.hp1 NA20300.hp1 |
a0016a0033 | a0016c0006a0033c0031 | a0016c0006t0016a0033c0031t0013 | a0016c0006t0016g0039a0033c0031t0013g0040 | 2 | 47 | 0.0426 | -19 | c.183 others(28): Show |
p.Leu others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4743/6463 | 1832/3402 | 611/1133 | chr16 | TogoVar | ||
| NPIPB5_chr16_22505891_22541535 | 22534940 | CCGAGCGT others(12): Show |
C | frameshift_variant | HIGH | HG02040.hp2 HG02155.hp1 |
a0022a0026 | a0022c0029a0026c0022 | a0022c0029t0002a0026c0022t0009 | a0022c0029t0002g0006a0026c0022t0009g0002 | 2 | 47 | 0.0426 | -19 | c.195 others(28): Show |
p.Val others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4870/6463 | 1959/3402 | 653/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB5_chr16_22505891_22541535 | 22534941 | C | CTTCCACC others(97): Show |
frameshift_variant others(1): Show |
HIGH | HG00621.hp1 | a0029 | a0029c0003 | a0029c0003t0010 | a0029c0003t0010g0043 | 1 | 47 | 0.0213 | 104 | c.195 others(113): Show |
p.Val others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4870/6463 | 1959/3402 | 653/1133 | chr16 | TogoVar | ||
| NPIPB5_chr16_22505891_22541535 | 22535198 | G | GTCTGCGG others(132): Show |
frameshift_variant | HIGH | HG00323.hp1 | a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0009 | 1 | 47 | 0.0213 | 139 | c.226 others(148): Show |
p.Leu others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5175/6463 | 2264/3402 | 755/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB5_chr16_22505891_22541535 | 22535324 | G | GTCTGCGG others(6): Show |
frameshift_variant | HIGH | HG00642.hp1 HG01496.hp2 HG02148.hp2 others(4): Show |
a0018a0019a0020others(4): Show | a0018c0004a0019c0005a0020c0026others(4): Show | a0018c0004t0011a0019c0005t0001a0020c0026t0002others(4): Show | a0018c0004t0011g0019a0019c0005t0001g0016a0020c0026t0002g0008others(4): Show | 7 | 47 | 0.1489 | 13 | c.235 others(22): Show |
p.Gly others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5262/6463 | 2351/3402 | 784/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB5_chr16_22505891_22541535 | 22535450 | G | GTCTGCGG others(6): Show |
frameshift_variant | HIGH | HG00621.hp1 | a0029 | a0029c0003 | a0029c0003t0010 | a0029c0003t0010g0043 | 1 | 47 | 0.0213 | 13 | c.247 others(22): Show |
p.Gly others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5388/6463 | 2477/3402 | 826/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |