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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOS1AP_chr1_162064691_162375475 | 162289209 | T | TTTCCTTC others(19): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0155 | 1 | 182 | 0.0055 | 26 | c.270 others(43): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NOS1_chr12_117203142_117366626 | 117306604 | G | GTTATCCG others(19): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0027 | a0001c0027t0121 | a0001c0027t0121g0100 | 1 | 294 | 0.0034 | 26 | c.852 others(43): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 3/28 | chr12 | TogoVar | ||||||
NOS1_chr12_117203142_117366626 | 117335729 | T | TGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(5): Show | a0001c0001t0002g0210a0001c0001t0006g0265a0001c0001t0015g0236others(5): Show | 8 | 294 | 0.0272 | 26 | c.-42 others(45): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
NOSTRIN_chr2_168797637_168870514 | 168834507 | G | GCGCGCGC others(19): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 326 | 0.0031 | 26 | c.504 others(41): Show |
NOSTRIN | ENSG00000163072.16 | transcript | ENST00000317647.12 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NOTCH2NLB_chr1_148595285_148684746 | 148651162 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0035 | 1 | 36 | 0.0278 | 26 | c.4-1 others(41): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
NOTCH2NLR_chr1_120718945_120799851 | 120752554 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 164 | 0.0061 | 26 | c.74- others(43): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NOTCH2NLR_chr1_120718945_120799851 | 120752554 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 164 | 0.0061 | 26 | c.74- others(43): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NOTCH2_chr1_119906553_120074662 | 120041061 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0051 | 1 | 168 | 0.0060 | 26 | c.74- others(43): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
NOTCH2_chr1_119906553_120074662 | 120041069 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046a0001c0002t0002g0049 | 2 | 168 | 0.0119 | 26 | c.74- others(43): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
NOTCH2_chr1_119906553_120074662 | 120041071 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 168 | 0.0060 | 26 | c.74- others(43): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
NOTCH3_chr19_15154038_15205995 | 15173045 | C | CCTCCTCC others(19): Show |
intron_variant | MODIFIER | HG01934.hp2 HG03130.hp2 NA18980.hp1 others(1): Show |
a0002 | a0002c0003a0002c0008a0002c0059 | a0002c0003t0003a0002c0003t0004a0002c0008t0003others(1): Show | a0002c0003t0003g0042a0002c0003t0004g0124a0002c0008t0003g0326others(1): Show | 4 | 340 | 0.0118 | 26 | c.473 others(45): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | ||||||
NOTCH4_chr6_32189843_32229067 | 32214484 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01255.hp2 others(23): Show |
a0001a0005a0007others(3): Show | a0001c0001a0001c0041a0005c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0041t0004others(6): Show | a0001c0001t0001g0279a0001c0001t0001g0280a0001c0001t0001g0281others(17): Show | 26 | 437 | 0.0595 | 26 | c.202 others(43): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
NOVA2_chr19_45928734_45978865 | 45964561 | A | ATCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0056a0001c0001t0057a0001c0002t0019 | a0001c0001t0056g0175a0001c0001t0057g0174a0001c0002t0019g0184 | 3 | 402 | 0.0075 | 26 | c.86- others(41): Show |
NOVA2 | ENSG00000104967.8 | transcript | ENST00000263257.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
NOX3_chr6_155390368_155460839 | 155416744 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0168 | 1 | 362 | 0.0028 | 26 | c.130 others(45): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 10/13 | chr6 | TogoVar | ||||||
NOX3_chr6_155390368_155460839 | 155426984 | C | CGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 362 | 0.0028 | 26 | c.114 others(45): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
NOX3_chr6_155390368_155460839 | 155445957 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0002g0046a0001c0003t0001g0048a0001c0003t0001g0050others(7): Show | 10 | 362 | 0.0276 | 26 | c.341 others(43): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 4/13 | chr6 | TogoVar | ||||||
NOX4_chr11_89319353_89496375 | 89455744 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0078a0001c0002t0011a0001c0002t0100 | a0001c0001t0078g0143a0001c0002t0011g0157a0001c0002t0100g0258 | 3 | 288 | 0.0104 | 26 | c.154 others(43): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2/17 | chr11 | TogoVar | ||||||
NOX5_chr15_69009695_69067762 | 69045572 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0010 | a0010c0014 | a0010c0014t0002 | a0010c0014t0002g0270 | 1 | 396 | 0.0025 | 26 | c.164 others(45): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 10/15 | chr15 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100820059 | G | GGGGAGGT others(19): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 NA20905.hp2 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0007 | a0001c0002t0001g0021a0003c0006t0007g0007 | 2 | 288 | 0.0069 | 26 | c.-37 others(35): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 79 | chr2 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100842081 | G | GCGCGCGC others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0256 | 1 | 288 | 0.0035 | 26 | c.-23 others(45): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NPAS2_chr2_100815139_101001829 | 100842081 | G | GCGCGCGC others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0175 | 1 | 288 | 0.0035 | 26 | c.-23 others(45): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NPAS2_chr2_100815139_101001829 | 100842081 | G | GCGCGCGC others(19): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0055 | 1 | 288 | 0.0035 | 26 | c.-23 others(45): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NPAS2_chr2_100815139_101001829 | 100842081 | G | GTGCGCGC others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 288 | 0.0035 | 26 | c.-23 others(45): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | chr2 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33089038 | C | CAAAGATC others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00738.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0060a0001c0001t0002g0011a0001c0001t0002g0018others(44): Show | 47 | 92 | 0.5109 | 26 | c.140 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33147730 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0071 | 1 | 92 | 0.0109 | 26 | c.141 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33301306 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0045 | 1 | 92 | 0.0109 | 26 | c.386 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33307593 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01496.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0016others(6): Show | a0001c0001t0006g0021a0001c0001t0009g0006a0001c0001t0009g0061others(7): Show | 10 | 92 | 0.1087 | 26 | c.386 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33308527 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0006 | a0002c0006t0017 | a0002c0006t0017g0024 | 1 | 92 | 0.0109 | 26 | c.386 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33480569 | C | CTCCCTTC others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01175.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0060a0001c0001t0001g0069a0001c0001t0002g0011others(46): Show | 49 | 92 | 0.5326 | 26 | c.469 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33544788 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03516.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0001c0001t0052a0002c0002t0031 | a0001c0001t0018g0026a0001c0001t0052g0054a0002c0002t0031g0077 | 3 | 92 | 0.0326 | 26 | c.469 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33563537 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0003 | 1 | 92 | 0.0109 | 26 | c.558 others(43): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPEPPS_chr17_47526108_47628276 | 47538202 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170a0001c0001t0002g0290 | 2 | 342 | 0.0059 | 26 | c.255 others(43): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NPHP4_chr1_5857811_5997425 | 5949343 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01192.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0017others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0004t0001g0174others(7): Show | 10 | 208 | 0.0481 | 26 | c.811 others(43): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0164 | 1 | 208 | 0.0048 | 26 | c.517 others(43): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341190 | G | GTGGAAGG others(19): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0010 | 1 | 40 | 0.0250 | 26 | c.-48 others(37): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4455 | chr16 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341343 | A | AATGGGAA others(19): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0008 | 1 | 40 | 0.0250 | 26 | c.-50 others(37): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4608 | chr16 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341386 | G | GGGGATAA others(19): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 NA18982.hp2 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0004c0012t0011 | a0001c0001t0001g0030a0004c0012t0011g0012 | 2 | 40 | 0.0500 | 26 | c.-50 others(37): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4651 | chr16 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341386 | G | GGGGATGA others(19): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 40 | 0.0250 | 26 | c.-50 others(37): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4651 | chr16 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341412 | C | CGGGATGA others(19): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 40 | 0.0250 | 26 | c.-51 others(37): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4677 | chr16 | TogoVar | ||||||
NPIPB8_chr16_28633065_28663744 | 28646202 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0305 | 1 | 351 | 0.0029 | 26 | c.121 others(43): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB8_chr16_28633065_28663744 | 28662527 | T | TTGTGTGT others(19): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02723.hp2 others(1): Show |
a0001a0004a0029 | a0001c0001a0004c0004a0029c0020 | a0001c0001t0004a0004c0004t0001a0029c0020t0002 | a0001c0001t0004g0047a0004c0004t0001g0203a0004c0004t0001g0205others(1): Show | 4 | 351 | 0.0114 | 26 | c.*38 others(37): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 3784 | chr16 | TogoVar | ||||||
NPLOC4_chr17_81551887_81642112 | 81564105 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03491.hp1 |
a0001 | a0001c0004a0001c0007 | a0001c0004t0053a0001c0007t0005 | a0001c0004t0053g0213a0001c0007t0005g0238 | 2 | 344 | 0.0058 | 26 | c.166 others(45): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 16/16 | chr17 | TogoVar | ||||||
NPLOC4_chr17_81551887_81642112 | 81564109 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02723.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0062a0001c0001t0091 | a0001c0001t0032g0248a0001c0001t0062g0212a0001c0001t0091g0209 | 3 | 344 | 0.0087 | 26 | c.166 others(45): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 16/16 | chr17 | TogoVar | ||||||
NPLOC4_chr17_81551887_81642112 | 81585170 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0206 | 1 | 344 | 0.0029 | 26 | c.128 others(45): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 12/16 | chr17 | TogoVar | ||||||
NPNT_chr4_105890471_105976671 | 105898328 | G | GTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 236 | 0.0042 | 26 | c.172 others(41): Show |
NPNT | ENSG00000168743.13 | transcript | ENST00000379987.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 103296 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0336 | 1 | 350 | 0.0029 | 26 | c.630 others(43): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34663041 | T | TTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG02572.hp2 NA20300.hp2 |
a0002a0005 | a0002c0001a0005c0004 | a0002c0001t0003a0005c0004t0003 | a0002c0001t0003g0190a0005c0004t0003g0129 | 2 | 260 | 0.0077 | 26 | c.147 others(43): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34663067 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03225.hp1 NA18952.hp2 others(2): Show |
a0001a0002a0005 | a0001c0002a0002c0001a0005c0004 | a0001c0002t0001a0002c0001t0001a0002c0001t0007others(1): Show | a0001c0002t0001g0234a0002c0001t0001g0004a0002c0001t0007g0235others(1): Show | 5 | 260 | 0.0192 | 26 | c.147 others(43): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34663067 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0007 | a0007c0014 | a0007c0014t0002 | a0007c0014t0002g0242 | 1 | 260 | 0.0039 | 26 | c.147 others(43): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34792665 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0033 | 1 | 260 | 0.0039 | 26 | c.384 others(45): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |