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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO15B_chr17_75582800_75631849 | 75616380 | CAGGAGG | C | conservative_inframe_deletion | MODERATE | HG01243.hp1 HG03195.hp1 HG03195.hp2 others(1): Show |
a0035a0084a0115 | a0035c0033a0084c0072a0115c0116 | a0035c0033t0001a0084c0072t0003a0115c0116t0001 | a0035c0033t0001g0310 a0035c0033t0001g0311 a0084c0072t0003g0308 others(1): Show |
4 | 360 | 0.0111 | -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 | a0018c0053t0001g0136 a0018c0053t0001g0137 |
2 | 328 | 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 |
a0042a0044 | a0042c0045a0044c0056 | a0042c0045t0001a0044c0056t0001 | a0042c0045t0001g0071 a0044c0056t0001g0060 |
2 | 408 | 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 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0005 | 1 | 407 | 0.0025 | -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 | a0041 | a0041c0060 | a0041c0060t0001 | a0041c0060t0001g0077 | 1 | 407 | 0.0025 | -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 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0011 | 5 | 407 | 0.0123 | -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 |
a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0019 | 2 | 277 | 0.0072 | -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 | a0036 | a0036c0030 | a0036c0030t0001 | a0036c0030t0001g0071 | 1 | 364 | 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 | 93673115 | TGCTGCTG others(14): Show |
T | conservative_inframe_deletion | MODERATE | HG00733.hp1 HG01256.hp1 HG01257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 330 | 0.0242 | -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 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0000 | 1 | 412 | 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 | a0005 | a0005c0007 | a0005c0007t0017 | a0005c0007t0017g0083 | 1 | 420 | 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 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0028 | 1 | 286 | 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 |
a0006a0046a0058 | a0006c0021a0006c0149a0006c0150others(2): Show | a0006c0021t0001a0006c0149t0001a0006c0150t0001others(2): Show | a0006c0021t0001g0180 a0006c0021t0001g0182 a0006c0149t0001g0183 others(3): Show |
6 | 186 | 0.0323 | -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 | a0003c0003t0001g0015 a0003c0003t0001g0038 |
7 | 444 | 0.0158 | -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 | a0006 | a0006c0011 | a0006c0011t0007 | a0006c0011t0007g0011 | 1 | 318 | 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 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0119 | 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(174): Show |
a0001a0004a0005others(13): Show | a0001c0001a0001c0004a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(31): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(174): Show |
177 | 308 | 0.5747 | -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 | a0005c0009t0002g0255 a0005c0009t0010g0110 |
2 | 318 | 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 | a0002c0003t0001g0032 a0002c0003t0001g0036 a0002c0003t0001g0039 others(4): Show |
7 | 316 | 0.0222 | -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 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0115 | 1 | 408 | 0.0025 | -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 | a0006c0008t0003g0012 a0006c0008t0003g0156 a0006c0008t0003g0165 others(2): Show |
8 | 424 | 0.0189 | -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 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0001 | 2 | 252 | 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 | a0018 | a0018c0013 | a0018c0013t0002 | a0018c0013t0002g0245 | 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 | a0015c0021 | a0015c0021t0001 | a0015c0021t0001g0150 | 1 | 376 | 0.0027 | -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 | a0007c0016t0001g0028 | 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 | a0056 | a0056c0078 | a0056c0078t0002 | a0056c0078t0002g0307 | 1 | 426 | 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 | a0052 | a0052c0058 | a0052c0058t0004 | a0052c0058t0004g0058 | 1 | 184 | 0.0054 | -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 |
a0001a0005a0014others(4): Show | a0001c0001a0005c0013a0014c0015others(5): Show | a0001c0001t0002a0001c0001t0011a0005c0013t0001others(9): Show | a0001c0001t0002g0297 a0001c0001t0002g0333 a0001c0001t0011g0384 others(16): Show |
21 | 424 | 0.0495 | -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 | a0067 | a0067c0039 | a0067c0039t0021 | a0067c0039t0021g0041 | 1 | 404 | 0.0025 | -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(219): Show |
a0001a0004a0005others(37): Show | a0001c0001a0001c0076a0001c0081others(49): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(63): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0012 others(197): Show |
222 | 407 | 0.5455 | -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 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 a0001c0001t0002g0245 |
2 | 187 | 0.0107 | -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 | a0005 | a0005c0050 | a0005c0050t0037 | a0005c0050t0037g0397 | 1 | 426 | 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 |
a0016 | a0016c0017 | a0016c0017t0002 | a0016c0017t0002g0004 a0016c0017t0002g0293 |
3 | 426 | 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(216): Show |
a0001a0002a0004others(35): Show | a0001c0001a0001c0076a0001c0081others(42): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(59): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0012 others(197): Show |
219 | 315 | 0.6952 | -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 |
a0021a0027a0052others(1): Show | a0021c0024a0027c0031a0052c0058others(1): Show | a0021c0024t0029a0021c0024t0030a0027c0031t0001others(2): Show | a0021c0024t0029g0378 a0021c0024t0030g0379 a0027c0031t0001g0010 others(2): Show |
6 | 102 | 0.0588 | -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 |
a0005a0007a0013others(7): Show | a0005c0013a0007c0009a0007c0029others(9): Show | a0005c0013t0001a0007c0009t0002a0007c0029t0002others(10): Show | a0005c0013t0001g0084 a0005c0013t0001g0085 a0005c0013t0001g0087 others(18): Show |
21 | 117 | 0.1795 | -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 |
a0019 | a0019c0022a0019c0055 | a0019c0022t0001a0019c0055t0001 | a0019c0022t0001g0128 a0019c0022t0001g0195 a0019c0022t0001g0196 others(1): Show |
4 | 426 | 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 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0012 | 1 | 20 | 0.0500 | -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 |
a0016 | a0016c0015 | a0016c0015t0003a0016c0015t0004 | a0016c0015t0003g0095 a0016c0015t0004g0010 |
2 | 144 | 0.0139 | -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 |
a0001a0034 | a0001c0001a0034c0052 | a0001c0001t0004a0034c0052t0001 | a0001c0001t0004g0001 a0034c0052t0001g0034 |
2 | 144 | 0.0139 | -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 |
a0007a0015a0016 | a0007c0009a0007c0020a0015c0014others(1): Show | a0007c0009t0001a0007c0009t0003a0007c0009t0004others(4): Show | a0007c0009t0001g0060 a0007c0009t0003g0099 a0007c0009t0004g0008 others(5): Show |
8 | 112 | 0.0714 | -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 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0046 | 1 | 412 | 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 | a0001c0003a0002c0002a0002c0005others(7): Show | a0001c0003t0001a0002c0002t0001a0002c0005t0001others(7): Show | a0001c0003t0001g0238 a0002c0002t0001g0007 a0002c0002t0001g0011 others(78): Show |
100 | 400 | 0.2500 | -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 |
a0003a0005 | a0003c0003a0005c0004 | a0003c0003t0001a0005c0004t0001 | a0003c0003t0001g0179 a0005c0004t0001g0004 |
2 | 161 | 0.0124 | -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 |
a0009a0035 | a0009c0026a0035c0059 | a0009c0026t0001a0035c0059t0001 | a0009c0026t0001g0037 a0035c0059t0001g0083 |
2 | 197 | 0.0102 | -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 | |||
NPIPB4_chr16_21829582_21862756 | 21837048 | CTGCTGAG others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG00621.hp2 | a0029 | a0029c0028 | a0029c0028t0001 | a0029c0028t0001g0135 | 1 | 204 | 0.0049 | -12 | c.132 others(21): Show |
p.Pro others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1553/4020 | 1327/3669 | 443/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21837096 | AAGGTGTC others(257): Show |
A | conservative_inframe_deletion | MODERATE | HG01099.hp2 HG01109.hp2 |
a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0162 a0008c0017t0001g0163 |
2 | 203 | 0.0099 | -264 | c.102 others(9): Show |
p.Pro others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1505/4020 | 1027/3669 | 343/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21837174 | CTGCTGAG others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG00621.hp2 | a0029 | a0029c0028 | a0029c0028t0001 | a0029c0028t0001g0135 | 1 | 204 | 0.0049 | -12 | c.120 others(21): Show |
p.Pro others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1427/4020 | 1201/3669 | 401/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21837351 | GACACTCG others(107): Show |
G | conservative_inframe_deletion | MODERATE | HG01081.hp2 | a0031 | a0031c0054 | a0031c0054t0001 | a0031c0054t0001g0113 | 1 | 204 | 0.0049 | -114 | c.922 others(8): Show |
p.Val others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1250/4020 | 922/3669 | 308/1222 | chr16 | TogoVar | |||
NPIPB5_chr16_22505891_22541535 | 22534729 | GATCTCAA others(497): Show |
G | conservative_inframe_deletion | MODERATE | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 40 | 0.0250 | -504 | c.182 others(9): Show |
p.Tyr others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4736/6463 | 1825/3402 | 609/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |