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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPEPPS_chr17_47526108_47628276 | 47538202 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01993.hp2 HG02056.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0178 a0001c0001t0003g0098 a0001c0001t0003g0158 others(8): Show |
11 | 342 | 0.0322 | 15 | c.255 others(32): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47575580 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 a0001c0001t0003g0037 |
2 | 342 | 0.0059 | 15 | c.419 others(32): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47594591 | T | TTTATGTT others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02647.hp1 HG02735.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0023 others(7): Show |
10 | 342 | 0.0292 | 15 | c.142 others(34): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NPFFR1_chr10_70242329_70289004 | 70272211 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016a0001c0001t0083others(1): Show | a0001c0001t0006g0063 a0001c0001t0016g0064 a0001c0001t0083g0073 others(1): Show |
4 | 368 | 0.0109 | 15 | c.8-5 others(28): Show |
NPFFR1 | ENSG00000148734.8 | transcript | ENST00000277942.7 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
NPFFR1_chr10_70242329_70289004 | 70272211 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG02738.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0082a0002c0003t0088 | a0001c0001t0006g0047 a0001c0001t0082g0056 a0002c0003t0088g0057 |
3 | 368 | 0.0082 | 15 | c.8-5 others(28): Show |
NPFFR1 | ENSG00000148734.8 | transcript | ENST00000277942.7 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
NPFFR1_chr10_70242329_70289004 | 70288258 | G | GGGGGTGG others(8): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0096 | 1 | 368 | 0.0027 | 15 | c.-45 others(26): Show |
NPFFR1 | ENSG00000148734.8 | transcript | ENST00000277942.7 | protein_coding | 4255 | chr10 | TogoVar | |||||||
NPFFR2_chr4_72027000_72153305 | 72039042 | C | CTACAGGC others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(176): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(170): Show |
179 | 344 | 0.5204 | 15 | c.-8+ others(30): 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(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01070.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 others(38): Show |
43 | 344 | 0.1250 | 15 | c.-8+ others(32): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
NPFFR2_chr4_72027000_72153305 | 72127355 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp2 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0313 a0001c0001t0002g0316 a0002c0002t0002g0016 |
4 | 344 | 0.0116 | 15 | c.-7- others(30): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 1 | 208 | 0.0048 | 15 | c.517 others(32): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977553 | C | CAGTCTGC others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0104 | 1 | 208 | 0.0048 | 15 | c.279 others(30): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35825125 | G | GAGGGGAG others(8): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0005 | a0001c0005t0046 | a0001c0005t0046g0341 | 1 | 384 | 0.0026 | 15 | c.*13 others(26): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 246 | chr19 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35825135 | G | GAGGGGAG others(8): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0144 | 1 | 384 | 0.0026 | 15 | c.*13 others(26): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 236 | chr19 | TogoVar | |||||||
NPHS2_chr1_179545539_179580948 | 179579882 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG01099.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 others(7): Show |
18 | 424 | 0.0425 | 15 | c.-40 others(26): Show |
NPHS2 | ENSG00000116218.13 | transcript | ENST00000367615.9 | protein_coding | 3935 | chr1 | TogoVar | |||||||
NPIPA3_chr16_14698411_14731342 | 14727507 | G | GTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0023 | 1 | 24 | 0.0417 | 15 | c.*12 others(26): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1166 | chr16 | TogoVar | |||||||
NPIPA5_chr16_15358628_15383294 | 15370450 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG02004.hp2 others(5): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0003a0002c0008t0003 | a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0212 others(3): Show |
8 | 430 | 0.0186 | 15 | c.193 others(30): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB11_chr16_29376310_29411711 | 29397840 | T | TGGAGGAG others(8): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0064 | a0064c0059 | a0064c0059t0001 | a0064c0059t0001g0189 | 1 | 428 | 0.0023 | 15 | c.121 others(32): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB13_chr16_30217897_30253479 | 30238672 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0007 | 1 | 145 | 0.0069 | 15 | c.121 others(32): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB15_chr16_74371306_74397115 | 74381148 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01358.hp1 HG01981.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0007others(2): Show | a0001c0001t0002g0203 a0001c0001t0002g0227 a0001c0001t0002g0235 others(10): Show |
13 | 261 | 0.0498 | 15 | c.67- others(28): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPIPB5_chr16_22505891_22541535 | 22508386 | A | ACCTCATC others(8): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0016 | a0016c0006 | a0016c0006t0016 | a0016c0006t0016g0039 | 1 | 47 | 0.0213 | 15 | c.-54 others(26): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2504 | chr16 | TogoVar | |||||||
NPIPB7_chr16_28451329_28477336 | 28469253 | A | AGAAAGAG others(8): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0158 | 1 | 382 | 0.0026 | 15 | c.66+ others(30): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
NPIPB8_chr16_28633065_28663744 | 28662527 | T | TTGTGTGT others(8): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 351 | 0.0029 | 15 | c.*38 others(26): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 3784 | chr16 | TogoVar | |||||||
NPIPB8_chr16_28633065_28663744 | 28662544 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 351 | 0.0029 | 15 | c.*39 others(26): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 3801 | chr16 | TogoVar | |||||||
NPIPB8_chr16_28633065_28663744 | 28662566 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 351 | 0.0029 | 15 | c.*39 others(26): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 3823 | chr16 | TogoVar | |||||||
NPIPB9_chr16_28746787_28777864 | 28776652 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 179 | 0.0056 | 15 | c.*38 others(26): Show |
NPIPB9 | ENSG00000196993.9 | transcript | ENST00000357796.8 | protein_coding | 3789 | chr16 | TogoVar | |||||||
NPLOC4_chr17_81551887_81642112 | 81564083 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0005 | a0001c0005t0034 | a0001c0005t0034g0264 | 1 | 344 | 0.0029 | 15 | c.166 others(34): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 16/16 | chr17 | TogoVar | |||||||
NPLOC4_chr17_81551887_81642112 | 81581375 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02015.hp2 NA19054.hp1 |
a0001 | a0001c0007 | a0001c0007t0003a0001c0007t0014 | a0001c0007t0003g0242 a0001c0007t0014g0224 a0001c0007t0014g0241 |
3 | 344 | 0.0087 | 15 | c.128 others(34): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 12/16 | chr17 | TogoVar | |||||||
NPLOC4_chr17_81551887_81642112 | 81616333 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03486.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0005a0001c0013 | a0001c0005t0035a0001c0005t0063a0001c0005t0072others(2): Show | a0001c0005t0035g0262 a0001c0005t0063g0261 a0001c0005t0072g0260 others(2): Show |
5 | 344 | 0.0145 | 15 | c.210 others(32): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 3/16 | chr17 | TogoVar | |||||||
NPLOC4_chr17_81551887_81642112 | 81631437 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0122a0001c0002t0017 | a0001c0001t0122g0252 a0001c0002t0017g0005 |
2 | 344 | 0.0058 | 15 | c.16- others(30): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
NPM2_chr8_22019134_22041897 | 22021909 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 NA18975.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 |
3 | 434 | 0.0069 | 15 | c.-28 others(26): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2224 | chr8 | TogoVar | |||||||
NPM2_chr8_22019134_22041897 | 22022614 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 434 | 0.0023 | 15 | c.-21 others(26): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 1519 | chr8 | TogoVar | |||||||
NPM2_chr8_22019134_22041897 | 22033551 | T | TGCAGACC others(8): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 434 | 0.0023 | 15 | c.364 others(30): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NPNT_chr4_105890471_105976671 | 105920395 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 236 | 0.0042 | 15 | c.173 others(32): Show |
NPNT | ENSG00000168743.13 | transcript | ENST00000379987.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NPNT_chr4_105890471_105976671 | 105975522 | G | GATTTTAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0112 | 1 | 236 | 0.0042 | 15 | c.*65 others(26): Show |
NPNT | ENSG00000168743.13 | transcript | ENST00000379987.7 | protein_coding | 3852 | chr4 | TogoVar | |||||||
NPPA_chr1_11840709_11852783 | 11852186 | G | GTTTTATT others(8): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01074.hp2 others(14): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0002a0000c0002t0004a0001c0001t0001 | a0000c0002t0002g0004 a0000c0002t0002g0006 a0000c0002t0002g0045 others(4): Show |
17 | 366 | 0.0465 | 15 | c.-45 others(26): Show |
NPPA | ENSG00000175206.11 | transcript | ENST00000376480.7 | protein_coding | 4404 | chr1 | TogoVar | |||||||
NPPB_chr1_11852464_11863945 | 11853617 | A | AAAAACAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 410 | 0.0024 | 15 | c.*40 others(26): Show |
NPPB | ENSG00000120937.9 | transcript | ENST00000376468.4 | protein_coding | 3846 | chr1 | TogoVar | |||||||
NPPB_chr1_11852464_11863945 | 11860958 | T | TGTGTGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 410 | 0.0024 | 15 | c.-21 others(26): Show |
NPPB | ENSG00000120937.9 | transcript | ENST00000376468.4 | protein_coding | 2014 | chr1 | TogoVar | |||||||
NPR3_chr5_32706321_32796720 | 32710859 | G | GTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0046 | a0001c0001t0024g0286 a0001c0001t0046g0289 |
2 | 320 | 0.0063 | 15 | c.-91 others(24): Show |
NPR3 | ENSG00000113389.16 | transcript | ENST00000265074.13 | protein_coding | 461 | chr5 | TogoVar | |||||||
NPR3_chr5_32706321_32796720 | 32764788 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03516.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019a0001c0001t0042 | a0001c0001t0004g0043 a0001c0001t0019g0002 a0001c0001t0042g0045 |
3 | 320 | 0.0094 | 15 | c.106 others(34): 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(8): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0144 a0001c0001t0007g0145 |
2 | 350 | 0.0057 | 15 | c.630 others(30): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 103296 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01255.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0048 others(8): Show |
11 | 350 | 0.0314 | 15 | c.630 others(32): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
NPSR1_chr7_34653218_34854978 | 34823399 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02523.hp2 |
a0006 | a0006c0006 | a0006c0006t0002a0006c0006t0004 | a0006c0006t0002g0145 a0006c0006t0004g0045 |
2 | 260 | 0.0077 | 15 | c.479 others(32): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34823399 | G | GAAAAAGA others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02723.hp2 HG02970.hp1 others(2): Show |
a0001a0018 | a0001c0002a0018c0026 | a0001c0002t0001a0001c0002t0004a0018c0026t0004 | a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0004g0006 others(2): Show |
5 | 260 | 0.0192 | 15 | c.479 others(32): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPTXR_chr22_38813452_38849028 | 38813900 | T | TTTCTCTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0193 a0001c0001t0001g0233 others(24): Show |
30 | 354 | 0.0848 | 15 | c.*87 others(26): Show |
NPTXR | ENSG00000221890.6 | transcript | ENST00000333039.4 | protein_coding | 4551 | chr22 | TogoVar | |||||||
NPTXR_chr22_38813452_38849028 | 38837845 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01243.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0198 others(12): Show |
17 | 354 | 0.0480 | 15 | c.624 others(32): Show |
NPTXR | ENSG00000221890.6 | transcript | ENST00000333039.4 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
NPTXR_chr22_38813452_38849028 | 38837845 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0066 | 1 | 354 | 0.0028 | 15 | c.624 others(32): Show |
NPTXR | ENSG00000221890.6 | transcript | ENST00000333039.4 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
NPY4R2_chr10_47913662_47928524 | 47913930 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 NA18962.hp2 NA18966.hp1 others(4): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0001c0003t0008a0002c0001t0001 | a0001c0003t0003g0003 a0001c0003t0003g0022 a0001c0003t0008g0003 others(1): Show |
7 | 276 | 0.0254 | 15 | c.-52 others(26): Show |
NPY4R2 | ENSG00000264717.6 | transcript | ENST00000576178.7 | protein_coding | 4731 | chr10 | TogoVar | |||||||
NPY4R_chr10_46456099_46470958 | 46470698 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 1 | 290 | 0.0035 | 15 | c.-52 others(26): Show |
NPY4R | ENSG00000204174.8 | transcript | ENST00000374312.5 | protein_coding | 4741 | chr10 | TogoVar | |||||||
NPY_chr7_24279190_24296862 | 24290775 | A | AATAATAA others(8): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02165.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0073 |
5 | 476 | 0.0105 | 15 | c.270 others(30): Show |
NPY | ENSG00000122585.8 | transcript | ENST00000242152.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPY_chr7_24279190_24296862 | 24290775 | A | AATAATAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0068 |
7 | 476 | 0.0147 | 15 | c.270 others(30): Show |
NPY | ENSG00000122585.8 | transcript | ENST00000242152.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |