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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPAS3_chr14_32933879_33809173 | 33319128 | G | GTTGGATA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01884.hp2 HG02622.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0018a0001c0001t0003g0017a0001c0001t0006g0021others(11): Show | 14 | 92 | 0.1522 | 9 | c.386 others(28): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33582970 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01496.hp2 HG02055.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0002g0011a0001c0001t0003g0017others(16): Show | 19 | 92 | 0.2065 | 9 | c.558 others(28): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33789583 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0041others(3): Show | a0001c0001t0001g0060a0001c0001t0002g0011a0001c0001t0041g0079others(3): Show | 6 | 92 | 0.0652 | 9 | c.115 others(28): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105721 | G | GCGTGATG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG02895.hp1 HG03471.hp1 |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0041a0001c0002t0120a0005c0010t0041 | a0001c0002t0041g0088a0001c0002t0120g0089a0005c0010t0041g0050 | 3 | 355 | 0.0085 | 9 | c.*10 others(18): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 108 | chr20 | TogoVar | |||||
NPC1_chr18_23526442_23591506 | 23550479 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02602.hp1 HG03927.hp2 others(8): Show |
a0001a0011a0015 | a0001c0001a0011c0023a0015c0030 | a0001c0001t0002a0011c0023t0002a0015c0030t0002 | a0001c0001t0002g0291a0001c0001t0002g0296a0001c0001t0002g0297others(8): Show | 11 | 378 | 0.0291 | 9 | c.165 others(28): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | TogoVar | ||||||
NPC1_chr18_23526442_23591506 | 23588699 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(155): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0047a0001c0001t0001g0097a0001c0001t0001g0098others(150): Show | 158 | 378 | 0.4180 | 9 | c.-23 others(20): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2194 | chr18 | TogoVar | ||||||
NPEPL1_chr20_58687800_58720844 | 58692584 | A | AGGGCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(133): Show |
a0001a0002a0003 | a0001c0001a0001c0011a0001c0012others(2): Show | a0001c0001t0001a0001c0011t0001a0001c0012t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(75): Show | 136 | 398 | 0.3417 | 9 | c.-31 others(18): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 215 | chr20 | TogoVar | ||||||
NPEPL1_chr20_58687800_58720844 | 58711107 | C | CCCCCCTC others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03491.hp2 HG03704.hp2 others(13): Show |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0026a0002c0006t0002g0245a0002c0006t0002g0246others(11): Show | 16 | 398 | 0.0402 | 9 | c.901 others(26): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NPEPPS_chr17_47526108_47628276 | 47529735 | C | CTATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00735.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0031a0001c0001t0002g0095a0001c0001t0002g0096others(26): Show | 29 | 342 | 0.0848 | 9 | c.-15 others(20): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1372 | chr17 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47575580 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01346.hp2 others(20): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0008 | a0001c0001t0001a0001c0001t0003a0001c0006t0003others(1): Show | a0001c0001t0001g0081a0001c0001t0003g0034a0001c0001t0003g0036others(20): Show | 23 | 342 | 0.0673 | 9 | c.419 others(26): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NPFFR1_chr10_70242329_70289004 | 70272244 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(18): Show | a0001c0001t0001g0105a0001c0001t0001g0107a0001c0001t0001g0108others(29): Show | 35 | 368 | 0.0951 | 9 | c.8-5 others(22): Show |
NPFFR1 | ENSG00000148734.8 | transcript | ENST00000277942.7 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
NPFFR1_chr10_70242329_70289004 | 70272244 | G | GAGAGAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01243.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0006a0001c0001t0016a0001c0001t0017others(7): Show | a0001c0001t0006g0062a0001c0001t0006g0063a0001c0001t0016g0060others(12): Show | 15 | 368 | 0.0408 | 9 | c.8-5 others(22): Show |
NPFFR1 | ENSG00000148734.8 | transcript | ENST00000277942.7 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
NPFFR2_chr4_72027000_72153305 | 72038905 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01258.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0006a0001c0001t0001g0034a0001c0001t0001g0096others(8): Show | 12 | 344 | 0.0349 | 9 | c.-8+ others(24): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NPFFR2_chr4_72027000_72153305 | 72070561 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01243.hp2 HG01358.hp1 others(15): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0003a0006c0005t0001 | a0001c0001t0001g0100a0001c0001t0001g0213a0001c0001t0001g0223others(13): Show | 18 | 344 | 0.0523 | 9 | c.-8+ others(26): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
NPFFR2_chr4_72027000_72153305 | 72127346 | A | AAATAATT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0306a0001c0001t0003g0309 | 5 | 344 | 0.0145 | 9 | c.-7- others(24): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NPHP4_chr1_5857811_5997425 | 5964935 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01358.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0029 | a0001c0001t0001a0001c0003t0001a0001c0029t0001 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0089others(2): Show | 5 | 208 | 0.0240 | 9 | c.517 others(26): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5964937 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp1 others(46): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(46): Show | 49 | 208 | 0.2356 | 9 | c.517 others(26): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5964939 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03831.hp1 HG03927.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0029others(2): Show | 5 | 208 | 0.0240 | 9 | c.517 others(26): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | ||||||
NPHS1_chr19_35820372_35857504 | 35824302 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG02071.hp1 others(5): Show |
a0001a0002 | a0001c0005a0001c0007a0001c0008others(3): Show | a0001c0005t0003a0001c0007t0044a0001c0008t0003others(4): Show | a0001c0005t0003g0336a0001c0007t0044g0330a0001c0008t0003g0354others(5): Show | 8 | 384 | 0.0208 | 9 | c.*22 others(20): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 1069 | chr19 | TogoVar | ||||||
NPHS1_chr19_35820372_35857504 | 35837026 | A | AAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG03130.hp1 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0049 | a0001c0005t0003g0335a0001c0005t0003g0336a0001c0005t0049g0334 | 3 | 384 | 0.0078 | 9 | c.311 others(28): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | ||||||
NPHS2_chr1_179545539_179580948 | 179569328 | T | TCTTTGTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0021 | 3 | 424 | 0.0071 | 9 | c.275 others(26): Show |
NPHS2 | ENSG00000116218.13 | transcript | ENST00000367615.9 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
NPHS2_chr1_179545539_179580948 | 179569328 | T | TCTTTGTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(381): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(142): Show | 384 | 424 | 0.9057 | 9 | c.275 others(26): Show |
NPHS2 | ENSG00000116218.13 | transcript | ENST00000367615.9 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
NPIPA5_chr16_15358628_15383294 | 15372090 | A | AATGGTAT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00639.hp2 others(61): Show |
a0001a0002a0019others(1): Show | a0001c0001a0002c0003a0002c0008others(2): Show | a0001c0001t0001a0002c0003t0003a0002c0008t0003others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0143a0001c0001t0001g0144others(48): Show | 64 | 430 | 0.1488 | 9 | c.192 others(26): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB11_chr16_29376310_29411711 | 29397839 | C | CTGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(264): Show |
a0001a0003a0005others(86): Show | a0001c0001a0001c0014a0001c0024others(103): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(115): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0011others(244): Show | 267 | 428 | 0.6238 | 9 | c.121 others(26): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB13_chr16_30217897_30253479 | 30237484 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(29): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0002c0003others(19): Show | a0001c0001t0001a0001c0001t0017a0001c0004t0001others(21): Show | a0001c0001t0001g0044a0001c0001t0001g0048a0001c0001t0001g0063others(29): Show | 32 | 145 | 0.2207 | 9 | c.121 others(26): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB13_chr16_30217897_30253479 | 30238672 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01070.hp2 others(9): Show |
a0001a0003a0007others(4): Show | a0001c0001a0001c0004a0003c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(8): Show | a0001c0001t0001g0039a0001c0001t0001g0043a0001c0001t0003g0091others(9): Show | 12 | 145 | 0.0828 | 9 | c.121 others(26): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB15_chr16_74371306_74397115 | 74384371 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG01346.hp2 others(10): Show |
a0002a0010 | a0002c0002a0010c0010 | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(1): Show | a0002c0002t0002g0021a0002c0002t0005g0020a0002c0002t0005g0022others(10): Show | 13 | 261 | 0.0498 | 9 | c.250 others(24): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB2_chr16_11922373_11947045 | 11932775 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01515.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0000a0001c0003t0000a0001c0012t0000others(1): Show | a0001c0001t0000g0008a0001c0001t0000g0058a0001c0003t0000g0019others(3): Show | 9 | 414 | 0.0217 | 9 | c.488 others(24): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/7 | chr16 | TogoVar | ||||||
NPIPB2_chr16_11922373_11947045 | 11943997 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(6): Show | a0001c0001t0000a0001c0004t0000a0001c0011t0000others(6): Show | a0001c0001t0000g0010a0001c0001t0000g0031a0001c0001t0000g0032others(35): Show | 40 | 414 | 0.0966 | 9 | c.-19 others(20): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 1953 | chr16 | TogoVar | ||||||
NPIPB6_chr16_28337517_28368508 | 28359906 | A | ACCACTAC others(2): Show |
intron_variant | MODIFIER | HG03041.hp1 HG06807.hp1 NA18942.hp1 others(3): Show |
a0006a0025 | a0006c0007a0025c0035 | a0006c0007t0002a0025c0035t0001 | a0006c0007t0002g0247a0006c0007t0002g0292a0006c0007t0002g0293others(3): Show | 6 | 361 | 0.0166 | 9 | c.120 others(26): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB6_chr16_28337517_28368508 | 28360918 | G | GTGTACAT others(2): Show |
intron_variant | MODIFIER | HG03041.hp1 HG06807.hp1 NA18942.hp1 others(3): Show |
a0006a0025 | a0006c0007a0025c0035 | a0006c0007t0002a0025c0035t0001 | a0006c0007t0002g0247a0006c0007t0002g0292a0006c0007t0002g0293others(3): Show | 6 | 361 | 0.0166 | 9 | c.120 others(26): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB9_chr16_28746787_28777864 | 28774077 | T | TTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG02602.hp1 HG03209.hp1 others(4): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0003a0005c0008others(2): Show | a0001c0001t0001a0004c0003t0001a0005c0008t0001others(2): Show | a0001c0001t0001g0122a0004c0003t0001g0016a0004c0003t0001g0113others(4): Show | 7 | 179 | 0.0391 | 9 | c.*13 others(20): Show |
NPIPB9 | ENSG00000196993.9 | transcript | ENST00000357796.8 | protein_coding | 1214 | chr16 | TogoVar | ||||||
NPLOC4_chr17_81551887_81642112 | 81587630 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG01106.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0022a0001c0001t0032a0001c0001t0103others(10): Show | a0001c0001t0022g0211a0001c0001t0022g0251a0001c0001t0032g0248others(13): Show | 16 | 344 | 0.0465 | 9 | c.128 others(28): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 12/16 | chr17 | TogoVar | ||||||
NPLOC4_chr17_81551887_81642112 | 81614275 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0004a0001c0001t0006a0001c0001t0067others(19): Show | a0001c0001t0004g0095a0001c0001t0006g0195a0001c0001t0067g0207others(23): Show | 26 | 344 | 0.0756 | 9 | c.210 others(24): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 3/16 | chr17 | TogoVar | ||||||
NPLOC4_chr17_81551887_81642112 | 81631437 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03139.hp1 NA18946.hp1 others(5): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0010a0001c0002t0011a0001c0002t0013others(3): Show | a0001c0002t0010g0013a0001c0002t0010g0017a0001c0002t0011g0009others(5): Show | 8 | 344 | 0.0233 | 9 | c.16- others(24): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 1/16 | chr17 | TogoVar | ||||||
NPL_chr1_182784773_182835384 | 182790613 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02818.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0281 | 3 | 326 | 0.0092 | 9 | c.-72 others(24): Show |
NPL | ENSG00000135838.14 | transcript | ENST00000367553.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NPR3_chr5_32706321_32796720 | 32710859 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0042a0001c0003t0001others(6): Show | a0001c0001t0001g0044a0001c0001t0042g0045a0001c0003t0001g0032others(10): Show | 13 | 320 | 0.0406 | 9 | c.-91 others(18): Show |
NPR3 | ENSG00000113389.16 | transcript | ENST00000265074.13 | protein_coding | 461 | chr5 | TogoVar | ||||||
NPR3_chr5_32706321_32796720 | 32764788 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0049 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0004g0073others(4): Show | 7 | 320 | 0.0219 | 9 | c.106 others(28): Show |
NPR3 | ENSG00000113389.16 | transcript | ENST00000265074.13 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 100970 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG01070.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(47): Show | 50 | 350 | 0.1429 | 9 | c.630 others(24): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 108674 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01346.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0060a0001c0001t0001g0061others(8): Show | 11 | 350 | 0.0314 | 9 | c.629 others(26): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
NPY_chr7_24279190_24296862 | 24290775 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG01346.hp2 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0014a0001c0001t0001g0064a0001c0007t0001g0072 | 9 | 476 | 0.0189 | 9 | c.270 others(24): Show |
NPY | ENSG00000122585.8 | transcript | ENST00000242152.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPY_chr7_24279190_24296862 | 24290775 | A | AATAATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0021others(14): Show | 72 | 476 | 0.1513 | 9 | c.270 others(24): Show |
NPY | ENSG00000122585.8 | transcript | ENST00000242152.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPY_chr7_24279190_24296862 | 24290775 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp2 HG02055.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0023a0001c0001t0001g0079others(3): Show | 25 | 476 | 0.0525 | 9 | c.270 others(24): Show |
NPY | ENSG00000122585.8 | transcript | ENST00000242152.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NR0B1_chrX_30299206_30314390 | 30301000 | G | GGAGAGGA others(2): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0043 | 1 | 322 | 0.0031 | 9 | c.*35 others(20): Show |
NR0B1 | ENSG00000169297.8 | transcript | ENST00000378970.5 | protein_coding | 3205 | chrX | TogoVar | ||||||
NR1H4_chr12_100468866_100569414 | 100533890 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02922.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0077a0001c0001t0001g0079a0001c0001t0001g0083others(6): Show | 9 | 308 | 0.0292 | 9 | c.599 others(24): Show |
NR1H4 | ENSG00000012504.15 | transcript | ENST00000392986.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NR1I2_chr3_119777101_119823487 | 119779824 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(112): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0007others(103): Show | 115 | 416 | 0.2764 | 9 | c.-24 others(20): Show |
NR1I2 | ENSG00000144852.20 | transcript | ENST00000393716.8 | protein_coding | 2276 | chr3 | TogoVar | ||||||
NR3C2_chr4_148073764_148447414 | 148104341 | G | GTTTTGGT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0002g0070others(10): Show | 13 | 170 | 0.0765 | 9 | c.279 others(28): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
NR5A1_chr9_124476236_124512399 | 124504051 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03041.hp2 HG03139.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0004a0002c0003t0005 | a0002c0002t0001g0121a0002c0002t0004g0122a0002c0003t0005g0080 | 3 | 356 | 0.0084 | 9 | c.-15 others(24): Show |
NR5A1 | ENSG00000136931.10 | transcript | ENST00000373588.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
NR5A2_chr1_200022710_200182415 | 200047584 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01884.hp1 HG01891.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0003t0002others(5): Show | a0001c0001t0002g0280a0001c0001t0006g0270a0001c0001t0006g0271others(6): Show | 9 | 286 | 0.0315 | 9 | c.464 others(24): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NR5A2_chr1_200022710_200182415 | 200066588 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01074.hp2 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0095a0001c0001t0001g0192a0001c0001t0002g0104others(22): Show | 25 | 286 | 0.0874 | 9 | c.111 others(30): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |