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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPBWR2_chr20_64098802_64112565 | 64105553 | G | GGGTGATG others(11): Show |
3_prime_UTR_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0105 | a0001c0002t0105g0077 | 1 | 355 | 0.0028 | 18 | c.*27 others(27): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 276 | chr20 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105577 | G | GCGTGATG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02155.hp1 HG02738.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0073a0001c0002t0054 | a0001c0001t0073g0108a0001c0002t0054g0058 | 2 | 355 | 0.0056 | 18 | c.*25 others(27): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 252 | chr20 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105612 | G | GATGTGAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0053 | 1 | 355 | 0.0028 | 18 | c.*21 others(27): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 217 | chr20 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105613 | G | GCGTGATG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp1 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0019a0001c0002t0053a0001c0011t0019 | a0001c0001t0019g0039a0001c0002t0053g0057a0001c0011t0019g0124 | 4 | 355 | 0.0113 | 18 | c.*21 others(27): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 216 | chr20 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105811 | G | GTGATGAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0006 | a0002c0006t0124 | a0002c0006t0124g0130 | 1 | 355 | 0.0028 | 18 | c.*18 others(25): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 18 | chr20 | TogoVar | |||||
NPC1L1_chr7_44507535_44546330 | 44518929 | C | CTTCTTTT others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 2 | 320 | 0.0063 | 18 | c.313 others(37): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
NPC1L1_chr7_44507535_44546330 | 44526546 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0190 | 1 | 320 | 0.0031 | 18 | c.263 others(37): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | TogoVar | ||||||
NPC1_chr18_23526442_23591506 | 23549742 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0032a0001c0010t0001g0033a0001c0010t0001g0100 | 3 | 378 | 0.0079 | 18 | c.165 others(37): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | TogoVar | ||||||
NPC1_chr18_23526442_23591506 | 23550479 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02965.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0004 | a0001c0001t0001a0001c0010t0001a0004c0004t0001 | a0001c0001t0001g0105a0001c0001t0001g0109a0001c0001t0001g0110others(4): Show | 7 | 378 | 0.0185 | 18 | c.165 others(37): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | TogoVar | ||||||
NPC2_chr14_74474940_74498305 | 74485294 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 410 | 0.0024 | 18 | c.191 others(33): Show |
NPC2 | ENSG00000119655.11 | transcript | ENST00000555619.6 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
NPEPL1_chr20_58687800_58720844 | 58697945 | T | TTTTCAGT others(11): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0103 | 1 | 398 | 0.0025 | 18 | c.508 others(33): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NPEPL1_chr20_58687800_58720844 | 58711122 | T | TCTCCTCC others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00738.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(9): Show | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0244others(27): Show | 34 | 398 | 0.0854 | 18 | c.901 others(35): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NPEPPS_chr17_47526108_47628276 | 47529737 | T | TTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG02027.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0237others(9): Show | 12 | 342 | 0.0351 | 18 | c.-15 others(29): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1370 | chr17 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47538202 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02486.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0097a0001c0001t0002g0161a0001c0001t0003g0121 | 3 | 342 | 0.0088 | 18 | c.255 others(35): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NPFFR2_chr4_72027000_72153305 | 72068616 | G | GTCATAGG others(11): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 344 | 0.0029 | 18 | c.-8+ others(35): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NPFFR2_chr4_72027000_72153305 | 72127355 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 344 | 0.0029 | 18 | c.-7- others(33): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NPHP1_chr2_110118348_110210013 | 110157193 | A | ATAAATTT others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069a0001c0002t0001g0073 | 2 | 322 | 0.0062 | 18 | c.108 others(37): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | TogoVar | ||||||
NPHP1_chr2_110118348_110210013 | 110184928 | A | AAGTCAGA others(11): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 322 | 0.0031 | 18 | c.144 others(35): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
NPHP3_chr3_132675609_132727409 | 132716015 | C | CTGTGGCC others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(132): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0019a0001c0001t0001g0185a0001c0001t0001g0188others(87): Show | 135 | 342 | 0.3947 | 18 | c.823 others(33): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 4/26 | chr3 | TogoVar | ||||||
NPHP3_chr3_132675609_132727409 | 132716018 | T | TGGCCCAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00621.hp2 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0237a0001c0001t0001g0238a0001c0001t0002g0164others(51): Show | 67 | 342 | 0.1959 | 18 | c.823 others(33): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 4/26 | chr3 | TogoVar | ||||||
NPHP3_chr3_132675609_132727409 | 132722478 | G | GGCGGGCC others(11): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 342 | 0.0059 | 18 | c.-12 others(27): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 70 | chr3 | TogoVar | ||||||
NPHP3_chr3_132675609_132727409 | 132722517 | T | TGGGCGGA others(11): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG03195.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024a0001c0003t0001g0056 | 3 | 342 | 0.0088 | 18 | c.-16 others(27): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 109 | chr3 | TogoVar | ||||||
NPHP3_chr3_132675609_132727409 | 132722649 | G | GACGGGGC others(11): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp2 NA20129.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0005 | a0001c0003t0001g0068a0001c0008t0005g0064a0001c0008t0005g0065 | 3 | 342 | 0.0088 | 18 | c.-29 others(27): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 241 | chr3 | TogoVar | ||||||
NPHP3_chr3_132675609_132727409 | 132722759 | G | GCGGGGCA others(11): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0007a0001c0001t0014a0001c0002t0001others(1): Show | a0001c0001t0007g0179a0001c0001t0014g0178a0001c0001t0014g0180others(2): Show | 7 | 342 | 0.0205 | 18 | c.-40 others(27): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 351 | chr3 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5949343 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0010a0001c0003t0001g0021a0001c0003t0001g0052others(11): Show | 14 | 208 | 0.0673 | 18 | c.811 others(35): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | TogoVar | ||||||
NPHS1_chr19_35820372_35857504 | 35844075 | T | TGTGGTTT others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03041.hp1 |
a0004 | a0004c0038a0004c0039 | a0004c0038t0021a0004c0039t0021 | a0004c0038t0021g0197a0004c0039t0021g0196 | 2 | 384 | 0.0052 | 18 | c.221 others(33): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 16/28 | chr19 | TogoVar | ||||||
NPHS2_chr1_179545539_179580948 | 179579882 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 NA18952.hp2 NA18990.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0097a0001c0001t0001g0102 | 6 | 424 | 0.0142 | 18 | c.-40 others(29): Show |
NPHS2 | ENSG00000116218.13 | transcript | ENST00000367615.9 | protein_coding | 3935 | chr1 | TogoVar | ||||||
NPIPA2_chr16_14737533_14770462 | 14769246 | T | TGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 205 | 0.0049 | 18 | c.*38 others(29): Show |
NPIPA2 | ENSG00000254852.9 | transcript | ENST00000529166.6 | protein_coding | 3785 | chr16 | TogoVar | ||||||
NPIPA7_chr16_16374140_16398972 | 16388049 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03654.hp2 HG04184.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0035a0002c0002t0001g0044a0003c0003t0001g0024others(1): Show | 4 | 132 | 0.0303 | 18 | c.437 others(33): Show |
NPIPA7 | ENSG00000214967.6 | transcript | ENST00000530217.3 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB11_chr16_29376310_29411711 | 29402724 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01358.hp2 HG04199.hp1 |
a0040a0092 | a0040c0037a0092c0064 | a0040c0037t0004a0092c0064t0009 | a0040c0037t0004g0057a0092c0064t0009g0391 | 2 | 428 | 0.0047 | 18 | c.120 others(33): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB11_chr16_29376310_29411711 | 29402724 | C | CTCTCTGT others(11): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0119 | a0119c0128 | a0119c0128t0001 | a0119c0128t0001g0105 | 1 | 428 | 0.0023 | 18 | c.120 others(33): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB11_chr16_29376310_29411711 | 29402724 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0095 | 1 | 428 | 0.0023 | 18 | c.120 others(33): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB15_chr16_74371306_74397115 | 74377794 | T | TCCCCTCC others(11): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0041 | 1 | 261 | 0.0038 | 18 | c.-22 others(33): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB15_chr16_74371306_74397115 | 74377811 | T | TCCCCCTC others(11): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 261 | 0.0038 | 18 | c.-22 others(33): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB15_chr16_74371306_74397115 | 74395932 | T | TTGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0006 | a0006c0006 | a0006c0006t0006 | a0006c0006t0006g0068 | 1 | 261 | 0.0038 | 18 | c.*38 others(29): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 3818 | chr16 | TogoVar | ||||||
NPIPB2_chr16_11922373_11947045 | 11934226 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG06807.hp1 |
a0002 | a0002c0006 | a0002c0006t0000 | a0002c0006t0000g0037a0002c0006t0000g0268 | 3 | 414 | 0.0073 | 18 | c.193 others(33): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB5_chr16_22505891_22541535 | 22540622 | T | TTGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 NA20300.hp2 |
a0005a0034 | a0005c0010a0034c0036 | a0005c0010t0006a0034c0036t0014 | a0005c0010t0006g0046a0034c0036t0014g0012 | 2 | 47 | 0.0426 | 18 | c.*42 others(29): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4088 | chr16 | TogoVar | ||||||
NPIPB7_chr16_28451329_28477336 | 28452458 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0030 | a0030c0034 | a0030c0034t0002 | a0030c0034t0002g0078 | 1 | 382 | 0.0026 | 18 | c.*39 others(29): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 3870 | chr16 | TogoVar | ||||||
NPIPB7_chr16_28451329_28477336 | 28455090 | T | TAATTAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 NA19057.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 2 | 382 | 0.0052 | 18 | c.*13 others(29): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1238 | chr16 | TogoVar | ||||||
NPIPB7_chr16_28451329_28477336 | 28470551 | G | GAGGGGAG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0038 | a0002c0002t0038g0051 | 1 | 382 | 0.0026 | 18 | c.-11 others(27): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 114 | chr16 | TogoVar | |||||
NPIPB7_chr16_28451329_28477336 | 28470551 | G | GAGGGGGA others(11): Show |
5_prime_UTR_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0111 | 1 | 382 | 0.0026 | 18 | c.-11 others(27): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 114 | chr16 | TogoVar | |||||
NPIPB7_chr16_28451329_28477336 | 28470619 | A | AAGGGGGA others(11): Show |
5_prime_UTR_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0336 | 1 | 382 | 0.0026 | 18 | c.-18 others(27): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 182 | chr16 | TogoVar | |||||
NPIPB7_chr16_28451329_28477336 | 28470625 | A | AAGGGGAG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0041 | a0002c0002t0041g0089 | 1 | 382 | 0.0026 | 18 | c.-18 others(27): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 188 | chr16 | TogoVar | |||||
NPIPB7_chr16_28451329_28477336 | 28470625 | A | AAGGGGAG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp2 others(61): Show |
a0002a0010a0011others(5): Show | a0002c0002a0010c0012a0011c0013others(5): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0014others(13): Show | a0002c0002t0002g0002a0002c0002t0002g0006a0002c0002t0002g0007others(50): Show | 64 | 382 | 0.1675 | 18 | c.-18 others(27): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 188 | chr16 | TogoVar | |||||
NPIPB8_chr16_28633065_28663744 | 28644427 | T | TCCCCTCC others(11): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0157 | 1 | 351 | 0.0029 | 18 | c.121 others(35): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB8_chr16_28633065_28663744 | 28644438 | T | TCCCCTCC others(11): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0158 | 1 | 351 | 0.0029 | 18 | c.121 others(35): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB8_chr16_28633065_28663744 | 28646202 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01071.hp1 NA18612.hp1 NA18612.hp2 others(1): Show |
a0002a0006a0037 | a0002c0003a0006c0005a0037c0030 | a0002c0003t0002a0006c0005t0002a0037c0030t0002 | a0002c0003t0002g0284a0002c0003t0002g0298a0006c0005t0002g0280others(1): Show | 4 | 351 | 0.0114 | 18 | c.121 others(35): 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(11): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00733.hp1 others(26): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0002others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0020others(25): Show | 29 | 351 | 0.0826 | 18 | c.*38 others(29): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 3784 | chr16 | TogoVar | ||||||
NPIPB8_chr16_28633065_28663744 | 28662572 | T | TGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0068 | 1 | 351 | 0.0029 | 18 | c.*39 others(29): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 3829 | chr16 | TogoVar | ||||||
NPIPB9_chr16_28746787_28777864 | 28774077 | T | TTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0081 | 1 | 179 | 0.0056 | 18 | c.*13 others(29): Show |
NPIPB9 | ENSG00000196993.9 | transcript | ENST00000357796.8 | protein_coding | 1214 | chr16 | TogoVar |