| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NBPF14_chr1_148526385_148601011 | 148572586 | T | TCTTTCTC others(25103): Show |
stop_gained others(1): Show |
HIGH | HG03688.hp2 | a0002 | a0002c0044 | a0002c0044t0008 | a0002c0044t0008g0007 | 1 | 222 | 0.0045 | 25110 | c.261 others(25119): Show |
p.Lys others(25123): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 21/71 | 2806/10779 | 2614/8967 | 872/2988 | chr1 | TogoVar | ||
| NBPF14_chr1_148526385_148601011 | 148572586 | T | TCTTTCTC others(25142): Show |
stop_gained others(1): Show |
HIGH | NA20129.hp2 | a0003 | a0003c0144 | a0003c0144t0001 | a0003c0144t0001g0174 | 1 | 222 | 0.0045 | 25149 | c.261 others(25158): Show |
p.Lys others(25162): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 21/71 | 2806/10779 | 2614/8967 | 872/2988 | chr1 | TogoVar | ||
| NBPF14_chr1_148526385_148601011 | 148572586 | T | TCTTTCTC others(25124): Show |
stop_gained others(1): Show |
HIGH | HG01099.hp1 HG01109.hp2 |
a0003 | a0003c0032 | a0003c0032t0001 | a0003c0032t0001g0157a0003c0032t0001g0175 | 2 | 222 | 0.0090 | 25131 | c.261 others(25140): Show |
p.Lys others(25144): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 21/71 | 2806/10779 | 2614/8967 | 872/2988 | chr1 | TogoVar | ||
| NBPF14_chr1_148526385_148601011 | 148572586 | T | TCTTTCTC others(20408): Show |
stop_gained others(1): Show |
HIGH | HG01255.hp2 | a0002 | a0002c0107 | a0002c0107t0001 | a0002c0107t0001g0125 | 1 | 222 | 0.0045 | 20415 | c.261 others(20424): Show |
p.Lys others(20428): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 21/71 | 2806/10779 | 2614/8967 | 872/2988 | chr1 | TogoVar | ||
| NBPF19_chr1_149470045_149561361 | 149505318 | C | CTTTCTTA others(4754): Show |
stop_gained others(1): Show |
HIGH | HG02809.hp1 | a0095 | a0095c0126 | a0095c0126t0001 | a0095c0126t0001g0140 | 1 | 276 | 0.0036 | 4761 | c.370 others(4770): Show |
p.Leu others(4776): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 32/94 | 4489/13941 | 3703/11532 | 1235/3843 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| NBPF19_chr1_149470045_149561361 | 149514836 | G | GTTTCTTA others(14264): Show |
stop_gained others(1): Show |
HIGH | NA18960.hp1 | a0036 | a0036c0014 | a0036c0014t0009 | a0036c0014t0009g0230 | 1 | 276 | 0.0036 | 14271 | c.516 others(14280): Show |
p.Leu others(14286): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 44/94 | 5953/13941 | 5167/11532 | 1723/3843 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| NBPF20_chr1_145285005_145430603 | 145373329 | T | TTTCTTCC others(50): Show |
conservative_inframe_insertion | MODERATE | NA19085.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0002 | 1 | 6 | 0.1667 | 57 | c.415 others(66): Show |
p.Gln others(70): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5275/19578 | 4156/16938 | 1386/5645 | chr1 | TogoVar | ||
| NBPF20_chr1_145285005_145430603 | 145374064 | C | CTCCCACG others(1577): Show |
stop_gained others(2): Show |
HIGH | NA19085.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0002 | 1 | 6 | 0.1667 | 1584 | c.414 others(1593): Show |
p.Asp others(1599): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5259/19578 | 4140/16938 | 1380/5645 | chr1 | TogoVar | ||
| NBPF20_chr1_145285005_145430603 | 145378079 | T | TTTCTTCC others(50): Show |
conservative_inframe_insertion | MODERATE | HG01358.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0005 | 1 | 6 | 0.1667 | 57 | c.342 others(66): Show |
p.Gln others(70): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4543/19578 | 3424/16938 | 1142/5645 | chr1 | TogoVar | ||
| NBPF20_chr1_145285005_145430603 | 145378814 | C | CTCCCACG others(1577): Show |
stop_gained others(2): Show |
HIGH | HG01358.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0005 | 1 | 6 | 0.1667 | 1584 | c.340 others(1593): Show |
p.Asp others(1599): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4527/19578 | 3408/16938 | 1136/5645 | chr1 | TogoVar | ||
| NCOA4_chr10_46000088_46035623 | 46013605 | G | GAACTAGC others(11): Show |
conservative_inframe_insertion | MODERATE | NA18953.hp2 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0064 | 1 | 412 | 0.0024 | 18 | c.497 others(25): Show |
p.Leu others(13): Show |
NCOA4 | ENSG00000266412.6 | transcript | ENST00000581486.6 | protein_coding | 6/10 | 626/3461 | 514/1845 | 172/614 | chr10 | TogoVar | ||
| NCOR2_chr12_124319415_124572612 | 124340175 | C | CGCCGCTG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(219): Show |
a0001a0002a0003others(49): Show | a0001c0003a0001c0005a0001c0009others(148): Show | a0001c0003t0004a0001c0003t0012a0001c0003t0016others(204): Show | a0001c0003t0004g0053a0001c0003t0004g0072a0001c0003t0012g0045others(219): Show | 222 | 234 | 0.9487 | 9 | c.550 others(18): Show |
p.Gly others(24): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 39/49 | 5986/9001 | 5517/7545 | 1839/2514 | chr12 | TogoVar | ||
| NCOR2_chr12_124319415_124572612 | 124402512 | G | GGCT | conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(91): Show |
a0001a0004a0008others(15): Show | a0001c0003a0001c0005a0001c0009others(59): Show | a0001c0003t0004a0001c0003t0012a0001c0003t0016others(85): Show | a0001c0003t0004g0053a0001c0003t0004g0072a0001c0003t0012g0045others(91): Show | 94 | 234 | 0.4017 | 3 | c.152 others(12): Show |
p.Gln others(6): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 16/49 | 2000/9001 | 1531/7545 | 511/2514 | chr12 | TogoVar | ||
| NCOR2_chr12_124319415_124572612 | 124402512 | G | GGCTGCT | conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00621.hp1 HG00673.hp1 others(39): Show |
a0003a0010a0013others(9): Show | a0003c0002a0003c0011a0003c0012others(25): Show | a0003c0002t0022a0003c0002t0052a0003c0002t0066others(34): Show | a0003c0002t0022g0015a0003c0002t0022g0018a0003c0002t0022g0058others(39): Show | 42 | 234 | 0.1795 | 6 | c.152 others(15): Show |
p.Gln others(13): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 16/49 | 2000/9001 | 1531/7545 | 511/2514 | chr12 | TogoVar | ||
| NCOR2_chr12_124319415_124572612 | 124402512 | G | GGCTGCTG others(2): Show |
conservative_inframe_insertion | MODERATE | HG02080.hp1 HG02083.hp1 HG02129.hp2 others(9): Show |
a0005a0022a0049others(2): Show | a0005c0019a0005c0067a0005c0068others(8): Show | a0005c0019t0008a0005c0019t0010a0005c0067t0008others(9): Show | a0005c0019t0008g0037a0005c0019t0010g0216a0005c0067t0008g0025others(9): Show | 12 | 234 | 0.0513 | 9 | c.152 others(18): Show |
p.Gln others(13): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 16/49 | 2000/9001 | 1531/7545 | 511/2514 | chr12 | TogoVar | ||
| NCOR2_chr12_124319415_124572612 | 124402512 | G | GGCTGCTG others(5): Show |
conservative_inframe_insertion | MODERATE | HG00597.hp1 HG01109.hp1 HG04228.hp2 others(1): Show |
a0020a0052a0053 | a0020c0060a0020c0062a0052c0063others(1): Show | a0020c0060t0027a0020c0062t0002a0052c0063t0036others(1): Show | a0020c0060t0027g0132a0020c0062t0002g0010a0052c0063t0036g0115others(1): Show | 4 | 234 | 0.0171 | 12 | c.152 others(21): Show |
p.Gln others(13): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 16/49 | 2000/9001 | 1531/7545 | 511/2514 | chr12 | TogoVar | ||
| NDC1_chr1_53760478_53843296 | 53832582 | C | CCTTTTGT others(32): Show |
stop_gained others(1): Show |
HIGH | HG03704.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0128 | 1 | 196 | 0.0051 | 39 | c.187 others(46): Show |
p.Ser others(50): Show |
NDC1 | ENSG00000058804.12 | transcript | ENST00000371429.4 | protein_coding | 3/18 | 222/4552 | 187/2025 | 63/674 | chr1 | TogoVar | ||
| NECTIN1_chr11_119655992_119734200 | 119664967 | C | CCCT | conservative_inframe_insertion | MODERATE | HG00280.hp1 HG01069.hp2 HG01496.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0024a0002c0002t0002g0126a0002c0002t0002g0245others(8): Show | 13 | 348 | 0.0374 | 3 | c.133 others(12): Show |
p.Glu others(6): Show |
NECTIN1 | ENSG00000110400.11 | transcript | ENST00000264025.8 | protein_coding | 6/6 | 1980/5956 | 1333/1554 | 445/517 | chr11 | TogoVar | ||
| NFIB_chr9_14076848_14319141 | 14307117 | C | CTTTCCAA others(14): Show |
conservative_inframe_insertion | MODERATE | NA19086.hp1 | a0003 | a0003c0006 | a0003c0006t0076 | a0003c0006t0076g0184 | 1 | 304 | 0.0033 | 21 | c.413 others(28): Show |
p.Glu others(34): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/11 | 1063/8576 | 433/1485 | 145/494 | chr9 | TogoVar | ||
| NFKBIA_chr14_35396513_35409749 | 35402482 | G | GTCAGCTG others(26): Show |
conservative_inframe_insertion | MODERATE | NA19055.hp1 | a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0043 | 1 | 462 | 0.0022 | 33 | c.785 others(40): Show |
p.Ser others(13): Show |
NFKBIA | ENSG00000100906.12 | transcript | ENST00000216797.10 | protein_coding | 5/6 | 922/1559 | 817/954 | 273/317 | chr14 | TogoVar | ||
| NPIPA1_chr16_14932443_14957056 | 14951771 | T | TCCGAGCG others(50): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(99): Show |
a0002a0004a0005others(5): Show | a0002c0002a0004c0004a0005c0005others(5): Show | a0002c0002t0001a0002c0002t0002a0004c0004t0001others(6): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0006others(87): Show | 102 | 253 | 0.4032 | 57 | c.804 others(64): Show |
p.Glu others(70): Show |
NPIPA1 | ENSG00000183426.17 | transcript | ENST00000328085.10 | protein_coding | 8/8 | 805/1084 | 805/1053 | 269/350 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPA1_chr16_14932443_14957056 | 14951771 | T | TCCGAGCG others(176): Show |
conservative_inframe_insertion | MODERATE | HG02040.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0047 | 1 | 253 | 0.0040 | 183 | c.804 others(190): Show |
p.Glu others(196): Show |
NPIPA1 | ENSG00000183426.17 | transcript | ENST00000328085.10 | protein_coding | 8/8 | 805/1084 | 805/1053 | 269/350 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPA3_chr16_14698411_14731342 | 14726026 | C | CCTCAAGA others(50): Show |
conservative_inframe_insertion | MODERATE | HG02922.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0023 | 1 | 24 | 0.0417 | 57 | c.855 others(64): Show |
p.Pro others(70): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 10/10 | 1444/1747 | 856/1110 | 286/369 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPA5_chr16_15358628_15383294 | 15363787 | C | GAGGTGTC others(50): Show |
conservative_inframe_insertion | MODERATE | HG00609.hp2 HG00639.hp2 HG00642.hp2 others(48): Show |
a0002a0010a0019others(1): Show | a0002c0003a0002c0008a0010c0013others(2): Show | a0002c0003t0003a0002c0008t0003a0010c0013t0003others(2): Show | a0002c0003t0003g0007a0002c0003t0003g0044a0002c0003t0003g0045others(39): Show | 51 | 430 | 0.1186 | 57 | c.925 others(64): Show |
p.Ala others(70): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 925/1084 | 925/1053 | 309/350 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29381454 | A | ACCTCCGC others(80): Show |
conservative_inframe_insertion | MODERATE | NA18747.hp2 | a0118 | a0118c0125 | a0118c0125t0001 | a0118c0125t0001g0101 | 1 | 428 | 0.0023 | 87 | c.339 others(96): Show |
p.Arg others(102): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 6224/6369 | 3477/3486 | 1159/1161 | chr16 | TogoVar | ||
| NPIPB12_chr16_29478534_29511408 | 29484488 | T | TCCCCGCA others(119): Show |
conservative_inframe_insertion | MODERATE | NA18972.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0009 | 1 | 21 | 0.0476 | 126 | c.186 others(135): Show |
p.Gly others(13): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2650/3605 | 1987/2787 | 663/928 | chr16 | TogoVar | ||
| NPIPB12_chr16_29478534_29511408 | 29485113 | A | AGGCAGGT others(245): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0016a0002c0001t0002g0018a0002c0001t0002g0019others(1): Show | 4 | 21 | 0.1905 | 252 | c.136 others(261): Show |
p.Ala others(265): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2025/3605 | 1362/2787 | 454/928 | chr16 | TogoVar | ||
| NPIPB12_chr16_29478534_29511408 | 29485334 | G | GCTGAGGG others(245): Show |
conservative_inframe_insertion | MODERATE | HG01981.hp2 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0017 | 1 | 21 | 0.0476 | 252 | c.114 others(261): Show |
p.Ser others(265): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 1804/3605 | 1141/2787 | 381/928 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30223042 | C | CGCCTCTT others(80): Show |
conservative_inframe_insertion | MODERATE | HG02886.hp1 | a0054 | a0054c0037 | a0054c0037t0001 | a0054c0037t0001g0082 | 1 | 145 | 0.0069 | 87 | c.340 others(96): Show |
p.Arg others(102): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 6146/6292 | 3403/3417 | 1135/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224206 | T | TCCCCGCA others(119): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp2 HG02015.hp1 HG02258.hp2 others(3): Show |
a0024a0030a0034others(3): Show | a0024c0027a0030c0064a0034c0048others(3): Show | a0024c0027t0002a0030c0064t0021a0034c0048t0007others(3): Show | a0024c0027t0002g0136a0030c0064t0021g0142a0034c0048t0007g0026others(3): Show | 6 | 145 | 0.0414 | 126 | c.211 others(135): Show |
p.Gly others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4982/6292 | 2239/3417 | 747/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224705 | A | AGGCAGGT others(119): Show |
conservative_inframe_insertion | MODERATE | HG02886.hp1 | a0054 | a0054c0037 | a0054c0037t0001 | a0054c0037t0001g0082 | 1 | 145 | 0.0069 | 126 | c.174 others(135): Show |
p.Ala others(139): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4483/6292 | 1740/3417 | 580/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224705 | A | AGGCAGGT others(119): Show |
conservative_inframe_insertion | MODERATE | HG01071.hp1 HG01361.hp2 HG02015.hp1 others(17): Show |
a0002a0010a0034others(2): Show | a0002c0003a0002c0007a0002c0008others(4): Show | a0002c0003t0001a0002c0007t0007a0002c0007t0015others(8): Show | a0002c0003t0001g0059a0002c0003t0001g0061a0002c0003t0001g0068others(17): Show | 20 | 145 | 0.1379 | 126 | c.161 others(135): Show |
p.Ala others(139): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4483/6292 | 1740/3417 | 580/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224705 | A | AGGCAGGT others(245): Show |
conservative_inframe_insertion | MODERATE | HG00544.hp2 | a0031 | a0031c0043 | a0031c0043t0001 | a0031c0043t0001g0080 | 1 | 145 | 0.0069 | 252 | c.148 others(261): Show |
p.Ala others(265): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4483/6292 | 1740/3417 | 580/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224896 | C | TGCTCAGA others(119): Show |
conservative_inframe_insertion | MODERATE | HG02486.hp2 | a0053 | a0053c0050 | a0053c0050t0001 | a0053c0050t0001g0052 | 1 | 145 | 0.0069 | 126 | c.155 others(135): Show |
p.Arg others(139): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4293/6292 | 1550/3417 | 517/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30225215 | G | GTGTCTTG others(119): Show |
conservative_inframe_insertion | MODERATE | HG02896.hp1 | a0037 | a0037c0039 | a0037c0039t0001 | a0037c0039t0001g0085 | 1 | 145 | 0.0069 | 126 | c.123 others(135): Show |
p.Thr others(139): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3973/6292 | 1230/3417 | 410/1138 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11927438 | A | ATTCCACC others(32): Show |
conservative_inframe_insertion | MODERATE | HG03490.hp2 HG03492.hp1 HG03669.hp1 others(2): Show |
a0002 | a0002c0009 | a0002c0009t0000 | a0002c0009t0000g0014a0002c0009t0000g0341a0002c0009t0000g0343 | 5 | 414 | 0.0121 | 39 | c.112 others(48): Show |
p.Pro others(13): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 1128/1194 | 1128/1194 | 376/397 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11927441 | G | GTTCCACC others(35): Show |
conservative_inframe_insertion | MODERATE | HG02109.hp1 HG03041.hp2 HG03098.hp1 |
a0002 | a0002c0014a0002c0024 | a0002c0014t0000a0002c0024t0000 | a0002c0014t0000g0277a0002c0014t0000g0293a0002c0024t0000g0283 | 3 | 414 | 0.0073 | 42 | c.112 others(51): Show |
p.Glu others(55): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 1125/1194 | 1125/1194 | 375/397 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11927441 | G | GTTCCACC others(35): Show |
conservative_inframe_insertion | MODERATE | HG02886.hp1 HG02976.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0013 | a0001c0013t0000 | a0001c0013t0000g0046a0001c0013t0000g0047a0001c0013t0000g0048others(1): Show | 4 | 414 | 0.0097 | 42 | c.108 others(51): Show |
p.Glu others(55): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 1125/1194 | 1125/1194 | 375/397 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11927453 | C | CGGCCCTC others(35): Show |
conservative_inframe_insertion | MODERATE | HG06807.hp2 | a0002 | a0002c0022 | a0002c0022t0000 | a0002c0022t0000g0285 | 1 | 414 | 0.0024 | 42 | c.111 others(51): Show |
p.Ala others(55): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 1113/1194 | 1113/1194 | 371/397 | chr16 | TogoVar | ||
| NPIPB2_chr16_11922373_11947045 | 11927453 | C | CGGCCCTC others(77): Show |
conservative_inframe_insertion | MODERATE | HG02965.hp1 | a0002 | a0002c0021 | a0002c0021t0000 | a0002c0021t0000g0280 | 1 | 414 | 0.0024 | 84 | c.111 others(93): Show |
p.Ala others(97): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 1113/1194 | 1113/1194 | 371/397 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836520 | A | AGGCAGGT others(119): Show |
conservative_inframe_insertion | MODERATE | HG03688.hp1 | a0059 | a0059c0090 | a0059c0090t0001 | a0059c0090t0001g0099 | 1 | 204 | 0.0049 | 126 | c.186 others(135): Show |
p.Ala others(139): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2081/4020 | 1866/3669 | 622/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836933 | G | GGAGCTGA others(5): Show |
conservative_inframe_insertion | MODERATE | HG00621.hp2 | a0046 | a0046c0040 | a0046c0040t0001 | a0046c0040t0001g0122 | 1 | 204 | 0.0049 | 12 | c.145 others(21): Show |
p.Ala others(25): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1668/4020 | 1453/3669 | 485/1222 | chr16 | TogoVar | ||
| NPIPB5_chr16_22505891_22541535 | 22534544 | G | GCCCTTCC others(233): Show |
conservative_inframe_insertion | MODERATE | HG02622.hp1 HG03927.hp1 NA19043.hp1 others(1): Show |
a0005a0006a0007others(1): Show | a0005c0010a0006c0011a0007c0012others(1): Show | a0005c0010t0006a0006c0011t0005a0007c0012t0003others(1): Show | a0005c0010t0006g0046a0006c0011t0005g0003a0007c0012t0003g0014others(1): Show | 4 | 47 | 0.0851 | 240 | c.172 others(249): Show |
p.Ala others(253): 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 | 22534548 | T | TTCCACCC others(119): Show |
conservative_inframe_insertion | MODERATE | HG02148.hp2 HG02622.hp2 NA19057.hp2 |
a0020a0021a0027 | a0020c0026a0021c0030a0027c0024 | a0020c0026t0002a0021c0030t0015a0027c0024t0002 | a0020c0026t0002g0008a0021c0030t0015g0005a0027c0024t0002g0041 | 3 | 47 | 0.0638 | 126 | c.160 others(135): Show |
p.Glu others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB7_chr16_28451329_28477336 | 28456530 | T | TGCCTCTT others(35): Show |
conservative_inframe_insertion | MODERATE | HG03927.hp2 | a0031 | a0031c0023 | a0031c0023t0033 | a0031c0023t0033g0042 | 1 | 382 | 0.0026 | 42 | c.109 others(51): Show |
p.Arg others(55): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 3036/3238 | 1138/1245 | 380/414 | chr16 | TogoVar | ||
| NPIPB9_chr16_28746787_28777864 | 28772588 | C | CCAACCAA others(35): Show |
conservative_inframe_insertion | MODERATE | NA18953.hp1 | a0019 | a0019c0031 | a0019c0031t0001 | a0019c0031t0001g0022 | 1 | 179 | 0.0056 | 42 | c.113 others(51): Show |
p.Pro others(55): Show |
NPIPB9 | ENSG00000196993.9 | transcript | ENST00000357796.8 | protein_coding | 7/7 | 1821/2094 | 1135/1299 | 379/432 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NR1H2_chr19_50371457_50388388 | 50378565 | A | ACAG | conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(150): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0004a0001c0005others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(18): Show | a0001c0002t0001g0004a0001c0002t0001g0006a0001c0002t0001g0010others(42): Show | 153 | 374 | 0.4091 | 3 | c.523 others(10): Show |
p.Gln others(6): Show |
NR1H2 | ENSG00000131408.15 | transcript | ENST00000253727.10 | protein_coding | 6/10 | 773/2416 | 526/1383 | 176/460 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| NSUN7_chr4_40744955_40816184 | 40808418 | A | AAATCAGT others(8): Show |
stop_gained others(1): Show |
HIGH | HG03130.hp1 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0011 | 1 | 392 | 0.0026 | 15 | c.163 others(24): Show |
p.Lys others(28): Show |
NSUN7 | ENSG00000179299.17 | transcript | ENST00000381782.7 | protein_coding | 12/12 | 2076/4839 | 1639/2157 | 547/718 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| NUP62_chr19_49901825_49934504 | 49908948 | G | GTGC | conservative_inframe_insertion | MODERATE | HG01884.hp1 HG02486.hp2 HG02622.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0015a0004c0005t0004g0041a0004c0005t0004g0297 | 6 | 416 | 0.0144 | 3 | c.857 others(10): Show |
p.Ser others(6): Show |
NUP62 | ENSG00000213024.13 | transcript | ENST00000352066.8 | protein_coding | 3/3 | 1237/3361 | 859/1569 | 287/522 | chr19 | TogoVar | ||
| OGFR_chr20_62799835_62819000 | 62813162 | G | GGAGCCCA others(53): Show |
conservative_inframe_insertion | MODERATE | NA18987.hp1 NA18998.hp1 NA19005.hp1 others(2): Show |
a0015a0019 | a0015c0022a0019c0023 | a0015c0022t0001a0019c0023t0001 | a0015c0022t0001g0006a0015c0022t0001g0011a0019c0023t0001g0002others(1): Show | 5 | 422 | 0.0119 | 60 | c.157 others(69): Show |
p.Ser others(13): Show |
OGFR | ENSG00000060491.17 | transcript | ENST00000290291.10 | protein_coding | 7/7 | 1658/2410 | 1633/2034 | 545/677 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |