| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUC5B_chr11_1218066_1267172 | 1250071 | AGCAGCCA others(8): Show |
A | conservative_inframe_deletion | MODERATE | HG03704.hp1 | a0150 | a0150c0192 | a0150c0192t0001 | a0150c0192t0001g0137 | 1 | 350 | 0.0029 | -15 | c.132 others(26): Show |
p.Thr others(15): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 13259/17911 | 13201/17289 | 4401/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MYLK_chr3_123605049_123889332 | 123700269 | GTTC | G | conservative_inframe_deletion | MODERATE | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(18): Show |
a0002a0019a0029others(1): Show | a0002c0002a0002c0003a0002c0069others(4): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(13): Show | a0002c0002t0002g0058a0002c0002t0004g0139a0002c0002t0005g0014others(18): Show | 21 | 156 | 0.1346 | -3 | c.319 others(12): Show |
p.Glu others(7): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 18/34 | 3510/10113 | 3196/5745 | 1066/1914 | chr3 | TogoVar | ||
| MYO15B_chr17_75582800_75631849 | 75589320 | CAAGGGGC others(20): Show |
C | conservative_inframe_deletion | MODERATE | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(40): Show |
a0003a0015a0050others(2): Show | a0003c0008a0003c0024a0003c0025others(29): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(29): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(38): Show | 43 | 384 | 0.1120 | -27 | c.126 others(36): Show |
p.Lys others(13): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1522/9914 | 1264/9291 | 422/3096 | chr17 | TogoVar | ||
| MYO15B_chr17_75582800_75631849 | 75616380 | CAGG | C | conservative_inframe_deletion | MODERATE | HG00741.hp1 HG01081.hp1 HG01361.hp1 others(12): Show |
a0003a0009a0020others(7): Show | a0003c0127a0003c0128a0009c0065others(9): Show | a0003c0127t0002a0003c0128t0002a0009c0065t0001others(9): Show | a0003c0127t0002g0048a0003c0128t0002g0049a0009c0065t0001g0286others(12): Show | 15 | 384 | 0.0391 | -3 | c.621 others(12): Show |
p.Glu others(7): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 38/64 | 6469/9914 | 6211/9291 | 2071/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| MYO15B_chr17_75582800_75631849 | 75616380 | CAGGAGG | C | conservative_inframe_deletion | MODERATE | HG01243.hp1 HG03195.hp1 HG03195.hp2 others(1): Show |
a0049a0099a0120 | a0049c0033a0099c0116a0120c0072 | a0049c0033t0001a0099c0116t0001a0120c0072t0003 | a0049c0033t0001g0319a0049c0033t0001g0320a0099c0116t0001g0275others(1): Show | 4 | 384 | 0.0104 | -6 | c.620 others(15): Show |
p.Glu others(15): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 38/64 | 6466/9914 | 6208/9291 | 2070/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| MYOM1_chr18_3061807_3224968 | 3188915 | ACTGCTTG others(29): Show |
A | conservative_inframe_deletion | MODERATE | HG01081.hp2 HG01167.hp1 |
a0018 | a0018c0053 | a0018c0053t0001 | a0018c0053t0001g0136a0018c0053t0001g0137 | 2 | 330 | 0.0061 | -36 | c.568 others(43): Show |
p.Thr others(13): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 4/38 | 797/5707 | 568/5058 | 190/1685 | chr18 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45083410 | CTGTCATA others(113): Show |
C | conservative_inframe_deletion | MODERATE | HG06807.hp1 NA18939.hp2 |
a0029a0047 | a0029c0053a0047c0065 | a0029c0053t0001a0047c0065t0001 | a0029c0053t0001g0081a0047c0065t0001g0066 | 2 | 410 | 0.0049 | -120 | c.265 others(9): Show |
p.Pro others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2844/4836 | 2650/4689 | 884/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45083467 | GCGTGGCT others(233): Show |
G | conservative_inframe_deletion | MODERATE | HG00544.hp1 | a0043 | a0043c0073 | a0043c0073t0001 | a0043c0073t0001g0070 | 1 | 410 | 0.0024 | -240 | c.247 others(9): Show |
p.Ile others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2787/4836 | 2473/4689 | 825/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45083467 | GCGTGGCT others(353): Show |
G | conservative_inframe_deletion | MODERATE | HG03831.hp2 | a0039 | a0039c0070 | a0039c0070t0001 | a0039c0070t0001g0086 | 1 | 410 | 0.0024 | -360 | c.235 others(9): Show |
p.Ile others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2787/4836 | 2353/4689 | 785/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45083587 | GCGTGGCT others(113): Show |
G | conservative_inframe_deletion | MODERATE | HG00738.hp1 HG01255.hp1 HG02738.hp1 others(2): Show |
a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0011 | 5 | 410 | 0.0122 | -120 | c.247 others(9): Show |
p.Ile others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2667/4836 | 2473/4689 | 825/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45083827 | TCGTGGCT others(113): Show |
T | conservative_inframe_deletion | MODERATE | HG00423.hp2 HG03490.hp2 |
a0016 | a0016c0020 | a0016c0020t0001 | a0016c0020t0001g0021 | 2 | 410 | 0.0049 | -120 | c.223 others(9): Show |
p.Leu others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2427/4836 | 2233/4689 | 745/1562 | chr7 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56713181 | AATCTTCG others(18): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA19091.hp2 | a0016 | a0016c0039 | a0016c0039t0001 | a0016c0039t0001g0085 | 1 | 366 | 0.0027 | -25 | c.597 others(37): Show |
p.Ile others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 7/9 | 6018/6387 | 5971/6237 | 1991/2078 | chr12 | TogoVar | ||
| NAP1L3_chrX_93665930_93678578 | 93673109 | CGCTGCT | C | conservative_inframe_deletion | MODERATE | HG00099.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0000 | 1 | 338 | 0.0030 | -6 | c.190 others(13): Show |
p.Ser others(11): Show |
NAP1L3 | ENSG00000186310.10 | transcript | ENST00000373079.4 | protein_coding | 1/1 | 469/2649 | 190/1521 | 64/506 | chrX | TogoVar | ||
| NAP1L3_chrX_93665930_93678578 | 93673115 | TGCTGCTG others(14): Show |
T | conservative_inframe_deletion | MODERATE | HG00733.hp1 HG01256.hp1 HG01257.hp2 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 8 | 338 | 0.0237 | -21 | c.169 others(28): Show |
p.Gly others(11): Show |
NAP1L3 | ENSG00000186310.10 | transcript | ENST00000373079.4 | protein_coding | 1/1 | 463/2649 | 169/1521 | 57/506 | chrX | TogoVar | ||
| NAP1L5_chr4_88690913_88702829 | 88697607 | GACCAGCC others(14): Show |
G | conservative_inframe_deletion | MODERATE | HG01891.hp2 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0000 | 1 | 414 | 0.0024 | -21 | c.127 others(28): Show |
p.Asp others(11): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1/1 | 222/1917 | 127/549 | 43/182 | chr4 | TogoVar | ||
| NAT16_chr7_101165496_101185293 | 101172348 | TGCACAGC others(20): Show |
T | conservative_inframe_deletion | MODERATE | NA19057.hp2 | a0006 | a0006c0007 | a0006c0007t0017 | a0006c0007t0017g0083 | 1 | 422 | 0.0024 | -27 | c.814 others(34): Show |
p.Ala others(13): Show |
NAT16 | ENSG00000167011.9 | transcript | ENST00000300303.7 | protein_coding | 4/4 | 1096/2949 | 814/1110 | 272/369 | chr7 | TogoVar | ||
| NDUFAF8_chr17_81234318_81246310 | 81240977 | TATCTTGC others(37): Show |
T | stop_lost others(2): Show |
HIGH | HG03540.hp2 | a0000 | a0000c0004 | a0000c0004t0006 | a0000c0004t0006g0031 | 1 | 288 | 0.0035 | -44 | c.196 others(52): Show |
NDUFAF8 | ENSG00000224877.4 | transcript | ENST00000431388.3 | protein_coding | 3/3 | 196/225 | 66/74 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||
| NEB_chr2_151480339_151739476 | 151727801 | ATGCTGGC others(8): Show |
A | conservative_inframe_deletion | MODERATE | HG01192.hp2 HG02258.hp1 HG02886.hp1 others(3): Show |
a0028a0130a0131others(2): Show | a0028c0021a0130c0150a0131c0149others(2): Show | a0028c0021t0001a0130c0150t0001a0131c0149t0001others(2): Show | a0028c0021t0001g0182a0028c0021t0001g0183a0130c0150t0001g0180others(3): Show | 6 | 188 | 0.0319 | -15 | c.169 others(22): Show |
p.Leu others(11): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 5/182 | 375/26191 | 169/25578 | 57/8525 | chr2 | TogoVar | ||
| NELFE_chr6_31947087_31963971 | 31954663 | TGTCTCGA others(5): Show |
T | conservative_inframe_deletion | MODERATE | HG01934.hp1 HG01952.hp2 HG01975.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0015a0003c0003t0001g0038 | 7 | 445 | 0.0157 | -12 | c.622 others(19): Show |
p.Arg others(13): Show |
NELFE | ENSG00000204356.14 | transcript | ENST00000375429.8 | protein_coding | 7/11 | 721/1445 | 622/1143 | 208/380 | chr6 | TogoVar | ||
| NEU4_chr2_241804193_241822413 | 241817031 | TGCTGCTG others(50): Show |
T | stop_lost others(1): Show |
HIGH | HG01515.hp2 | a0000 | a0000c0011 | a0000c0011t0009 | a0000c0011t0009g0010 | 1 | 319 | 0.0031 | -57 | c.144 others(65): Show |
p.Cys others(13): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 4/4 | 1526/1905 | 1441/1455 | 481/484 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| NHS_chrX_17370200_17740994 | 17376059 | AGGCGGCG others(29): Show |
A | conservative_inframe_deletion | MODERATE | HG02630.hp2 | a0013 | a0013c0016 | a0013c0016t0002 | a0013c0016t0002g0119 | 1 | 164 | 0.0061 | -36 | c.310 others(43): Show |
p.Pro others(13): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/9 | 868/9044 | 310/4956 | 104/1651 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| NINL_chr20_25447697_25590531 | 25476413 | GCTCCCA | G | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(175): Show |
a0001a0004a0005others(16): Show | a0001c0001a0001c0012a0001c0026others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(31): Show | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0119others(175): Show | 178 | 310 | 0.5742 | -6 | c.287 others(15): Show |
p.Trp others(13): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 17/24 | 2965/4991 | 2872/4149 | 958/1382 | chr20 | TogoVar | ||
| NKD2_chr5_1003802_1043943 | 1038307 | GCACGAGC others(11): Show |
G | conservative_inframe_deletion | MODERATE | HG01243.hp2 HG03669.hp1 |
a0005 | a0005c0009 | a0005c0009t0002a0005c0009t0010 | a0005c0009t0002g0249a0005c0009t0010g0111 | 2 | 319 | 0.0063 | -18 | c.131 others(27): Show |
p.Glu others(13): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 10/10 | 1568/2182 | 1312/1356 | 438/451 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| NKD2_chr5_1003802_1043943 | 1038331 | GCACCACC others(2): Show |
G | conservative_inframe_deletion | MODERATE | HG00597.hp1 NA18944.hp1 NA18973.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0034a0002c0003t0001g0040a0002c0003t0001g0041others(4): Show | 7 | 319 | 0.0219 | -9 | c.133 others(18): Show |
p.His others(13): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 10/10 | 1589/2182 | 1333/1356 | 445/451 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| NOA1_chr4_56958350_56982606 | 56973897 | TTTGTTCT others(14): Show |
T | conservative_inframe_deletion | MODERATE | NA19058.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0116 | 1 | 410 | 0.0024 | -21 | c.124 others(30): Show |
p.Asp others(13): Show |
NOA1 | ENSG00000084092.7 | transcript | ENST00000264230.5 | protein_coding | 2/7 | 1290/2218 | 1249/2097 | 417/698 | chr4 | TogoVar | ||
| NOM1_chr7_156944712_156978176 | 156950334 | AAAG | A | conservative_inframe_deletion | MODERATE | HG01952.hp1 HG02055.hp2 HG02109.hp1 others(5): Show |
a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0012a0006c0008t0003g0156a0006c0008t0003g0165others(2): Show | 8 | 426 | 0.0188 | -3 | c.601 others(10): Show |
p.Lys others(6): Show |
NOM1 | ENSG00000146909.8 | transcript | ENST00000275820.4 | protein_coding | 1/11 | 627/6082 | 601/2583 | 201/860 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| NPIPA1_chr16_14932443_14957056 | 14951874 | CGGATGAT others(62): Show |
C | conservative_inframe_deletion | MODERATE | HG02129.hp1 NA18747.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0001 | 2 | 253 | 0.0079 | -69 | c.934 others(77): Show |
p.Leu others(13): Show |
NPIPA1 | ENSG00000183426.17 | transcript | ENST00000328085.10 | protein_coding | 8/8 | 934/1084 | 934/1053 | 312/350 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPA5_chr16_15358628_15383294 | 15363656 | TCATTAGT others(50): Show |
T | stop_lost others(1): Show |
HIGH | NA18985.hp1 | a0000 | a0000c0016 | a0000c0016t0004 | a0000c0016t0004g0250 | 1 | 430 | 0.0023 | -57 | c.999 others(63): Show |
p.Glu others(19): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 1055/1084 | 999/1053 | 333/350 | chr16 | TogoVar | ||
| NPIPA5_chr16_15358628_15383294 | 15363787 | CAGGTGTC others(62): Show |
C | conservative_inframe_deletion | MODERATE | HG03927.hp1 | a0015 | a0015c0026 | a0015c0026t0001 | a0015c0026t0001g0152 | 1 | 430 | 0.0023 | -69 | c.856 others(76): Show |
p.Pro others(13): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 924/1084 | 856/1053 | 286/350 | chr16 | TogoVar | ||
| NPIPA7_chr16_16374140_16398972 | 16393637 | CACCCTCA others(62): Show |
C | conservative_inframe_deletion | MODERATE | HG00597.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0026 | 1 | 132 | 0.0076 | -69 | c.856 others(76): Show |
p.Pro others(13): Show |
NPIPA7 | ENSG00000214967.6 | transcript | ENST00000530217.3 | protein_coding | 8/8 | 961/1264 | 856/1110 | 286/369 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB11_chr16_29376310_29411711 | 29381727 | GAGGTGTC others(371): Show |
G | conservative_inframe_deletion | MODERATE | HG03710.hp1 | a0070 | a0070c0117 | a0070c0117t0002 | a0070c0117t0002g0307 | 1 | 428 | 0.0023 | -378 | c.282 others(9): Show |
p.Ser others(14): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5951/6369 | 2827/3486 | 943/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29381814 | TTGGAGCT others(119): Show |
T | conservative_inframe_deletion | MODERATE | HG03239.hp2 | a0091 | a0091c0065 | a0091c0065t0004 | a0091c0065t0004g0058 | 1 | 428 | 0.0023 | -126 | c.299 others(9): Show |
p.Pro others(14): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5864/6369 | 2992/3486 | 998/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29381850 | CGGAAGGT others(245): Show |
C | conservative_inframe_deletion | MODERATE | HG00597.hp2 HG00609.hp2 HG02055.hp1 others(18): Show |
a0016a0020a0023others(7): Show | a0016c0016a0020c0020a0023c0098others(8): Show | a0016c0016t0001a0020c0020t0010a0020c0020t0028others(10): Show | a0016c0016t0001g0084a0016c0016t0001g0085a0016c0016t0001g0087others(16): Show | 21 | 428 | 0.0491 | -252 | c.283 others(9): Show |
p.Lys others(14): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5828/6369 | 2830/3486 | 944/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29381850 | CGGAAGGT others(371): Show |
C | conservative_inframe_deletion | MODERATE | NA19043.hp2 | a0135 | a0135c0052 | a0135c0052t0021 | a0135c0052t0021g0041 | 1 | 428 | 0.0023 | -378 | c.270 others(9): Show |
p.Lys others(14): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5828/6369 | 2704/3486 | 902/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29381976 | CGGAAGGT others(119): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(220): Show |
a0001a0004a0005others(66): Show | a0001c0001a0001c0014a0001c0024others(78): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(89): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0011others(199): Show | 223 | 428 | 0.5210 | -126 | c.283 others(9): Show |
p.Lys others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5702/6369 | 2830/3486 | 944/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29381976 | CGGAAGGT others(245): Show |
C | conservative_inframe_deletion | MODERATE | HG03490.hp1 HG03492.hp2 |
a0036 | a0036c0041 | a0036c0041t0002 | a0036c0041t0002g0241a0036c0041t0002g0243 | 2 | 428 | 0.0047 | -252 | c.270 others(9): Show |
p.Lys others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5702/6369 | 2704/3486 | 902/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29383005 | GTCTTGAG others(119): Show |
G | conservative_inframe_deletion | MODERATE | HG06807.hp2 | a0111 | a0111c0135 | a0111c0135t0038 | a0111c0135t0038g0398 | 1 | 428 | 0.0023 | -126 | c.180 others(9): Show |
p.Asp others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4673/6369 | 1801/3486 | 601/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29383194 | TATTATCA others(188): Show |
T | conservative_inframe_deletion | MODERATE | HG01081.hp1 HG01099.hp1 HG01168.hp1 |
a0022 | a0022c0023 | a0022c0023t0002 | a0022c0023t0002g0015a0022c0023t0002g0291 | 3 | 428 | 0.0070 | -195 | c.154 others(9): Show |
p.Leu others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4484/6369 | 1543/3486 | 515/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29383311 | TTGTCTTG others(119): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(217): Show |
a0001a0004a0005others(62): Show | a0001c0001a0001c0014a0001c0024others(75): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(89): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0011others(198): Show | 220 | 428 | 0.5140 | -126 | c.149 others(9): Show |
p.Pro others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4367/6369 | 1495/3486 | 499/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29383311 | TTGTCTTG others(245): Show |
T | conservative_inframe_deletion | MODERATE | HG00280.hp2 HG00544.hp2 HG00609.hp1 others(3): Show |
a0037a0038a0090others(1): Show | a0037c0033a0038c0034a0090c0066others(1): Show | a0037c0033t0001a0038c0034t0029a0038c0034t0030others(2): Show | a0037c0033t0001g0009a0038c0034t0029g0378a0038c0034t0030g0379others(2): Show | 6 | 428 | 0.0140 | -252 | c.136 others(9): Show |
p.Pro others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4367/6369 | 1369/3486 | 457/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29383311 | TTGTCTTG others(371): Show |
T | conservative_inframe_deletion | MODERATE | HG01106.hp2 HG01358.hp2 HG02145.hp2 others(18): Show |
a0016a0017a0029others(8): Show | a0016c0016a0017c0031a0017c0039others(9): Show | a0016c0016t0001a0017c0031t0002a0017c0039t0002others(10): Show | a0016c0016t0001g0084a0016c0016t0001g0085a0016c0016t0001g0087others(18): Show | 21 | 428 | 0.0491 | -378 | c.124 others(9): Show |
p.Pro others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4367/6369 | 1243/3486 | 415/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29383827 | TATC | T | conservative_inframe_deletion | MODERATE | HG02015.hp1 NA18947.hp2 NA18961.hp1 others(1): Show |
a0026a0107 | a0026c0032a0026c0062a0107c0061 | a0026c0032t0001a0026c0062t0001a0107c0061t0001 | a0026c0032t0001g0194a0026c0032t0001g0195a0026c0062t0001g0127others(1): Show | 4 | 428 | 0.0094 | -3 | c.110 others(12): Show |
p.Asp others(6): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 3851/6369 | 1102/3486 | 368/1161 | chr16 | TogoVar | ||
| NPIPB12_chr16_29478534_29511408 | 29484237 | CGGCAGGT others(869): Show |
C | conservative_inframe_deletion | MODERATE | NA18982.hp1 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0012 | 1 | 21 | 0.0476 | -876 | c.136 others(9): Show |
p.Phe others(13): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2901/3605 | 1363/2787 | 455/928 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30223817 | CCCGCAGA others(245): Show |
C | conservative_inframe_deletion | MODERATE | NA18942.hp1 NA19000.hp1 |
a0011 | a0011c0014 | a0011c0014t0003a0011c0014t0004 | a0011c0014t0003g0100a0011c0014t0004g0010 | 2 | 145 | 0.0138 | -252 | c.237 others(9): Show |
p.Arg others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5371/6292 | 2377/3417 | 793/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30223943 | CCCGCAGA others(119): Show |
C | conservative_inframe_deletion | MODERATE | HG03195.hp1 NA18957.hp2 |
a0013a0044 | a0013c0069a0044c0054 | a0013c0069t0001a0044c0054t0004 | a0013c0069t0001g0034a0044c0054t0004g0008 | 2 | 145 | 0.0138 | -126 | c.237 others(9): Show |
p.Arg others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5245/6292 | 2377/3417 | 793/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224705 | AGGCAGGT others(119): Show |
A | conservative_inframe_deletion | MODERATE | HG00639.hp2 HG02818.hp2 HG02886.hp2 others(5): Show |
a0001a0009a0011others(3): Show | a0001c0004a0009c0034a0009c0036others(4): Show | a0001c0004t0001a0009c0034t0006a0009c0036t0006others(5): Show | a0001c0004t0001g0069a0009c0034t0006g0022a0009c0036t0006g0020others(5): Show | 8 | 145 | 0.0552 | -126 | c.161 others(9): Show |
p.Glu others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4483/6292 | 1615/3417 | 539/1138 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11927411 | ACCTCCGC others(38): Show |
A | conservative_inframe_deletion | MODERATE | HG02109.hp2 | a0009 | a0009c0017 | a0009c0017t0000 | a0009c0017t0000g0044 | 1 | 414 | 0.0024 | -45 | c.111 others(54): Show |
p.Ala others(13): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 1155/1194 | 1111/1194 | 371/397 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11927441 | GTTCCACC others(35): Show |
G | conservative_inframe_deletion | MODERATE | HG00423.hp1 HG00639.hp1 HG00642.hp2 others(97): Show |
a0001a0002a0004others(1): Show | a0001c0034a0002c0002a0002c0005others(7): Show | a0001c0034t0000a0002c0002t0000a0002c0005t0000others(7): Show | a0001c0034t0000g0236a0002c0002t0000g0007a0002c0002t0000g0011others(79): Show | 100 | 414 | 0.2416 | -42 | c.108 others(51): Show |
p.Ser others(13): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 1125/1194 | 1084/1194 | 362/397 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835953 | TGTGGAAG others(119): Show |
T | conservative_inframe_deletion | MODERATE | HG01981.hp2 NA18953.hp2 |
a0041a0066 | a0041c0034a0066c0050 | a0041c0034t0001a0066c0050t0001 | a0041c0034t0001g0142a0066c0050t0001g0144 | 2 | 204 | 0.0098 | -126 | c.230 others(9): Show |
p.Pro others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2648/4020 | 2308/3669 | 770/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836520 | AGGCAGGT others(119): Show |
A | conservative_inframe_deletion | MODERATE | HG01975.hp1 NA18747.hp2 |
a0079a0082 | a0079c0078a0082c0079 | a0079c0078t0001a0082c0079t0001 | a0079c0078t0001g0018a0082c0079t0001g0080 | 2 | 204 | 0.0098 | -126 | c.174 others(9): Show |
p.Glu others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2081/4020 | 1741/3669 | 581/1222 | chr16 | TogoVar |