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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NIBAN2_chr9_127500343_127574073 | 127523189 | AAAAATAT others(20): Show |
A | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 322 | 0.0031 | -27 | c.589 others(42): Show |
NIBAN2 | ENSG00000136830.12 | transcript | ENST00000373312.4 | protein_coding | 5/13 | chr9 | TogoVar | |||||||
NIBAN2_chr9_127500343_127574073 | 127523193 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02074.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010 | a0001c0001t0003g0284 a0001c0001t0005g0035 a0001c0001t0010g0108 |
3 | 247 | 0.0121 | -27 | c.589 others(42): Show |
NIBAN2 | ENSG00000136830.12 | transcript | ENST00000373312.4 | protein_coding | 5/13 | chr9 | TogoVar | |||||||
NID1_chr1_235970830_236070090 | 236003078 | GTGGTAGT others(20): Show |
G | intron_variant | MODIFIER | HG01993.hp1 NA18940.hp1 NA19090.hp1 |
a0001a0004 | a0001c0006a0004c0009 | a0001c0006t0002a0004c0009t0002 | a0001c0006t0002g0200 a0001c0006t0002g0274 a0004c0009t0002g0073 |
3 | 295 | 0.0102 | -27 | c.252 others(46): Show |
NID1 | ENSG00000116962.15 | transcript | ENST00000264187.7 | protein_coding | 12/19 | chr1 | TogoVar | |||||||
NID1_chr1_235970830_236070090 | 236003187 | TGGTAGTT others(20): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(148): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0006a0002c0002others(26): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0016others(35): Show | a0001c0001t0002g0018 a0001c0001t0002g0131 a0001c0001t0002g0134 others(147): Show |
151 | 332 | 0.4548 | -27 | c.252 others(46): Show |
NID1 | ENSG00000116962.15 | transcript | ENST00000264187.7 | protein_coding | 12/19 | chr1 | TogoVar | |||||||
NIM1K_chr5_43187225_43285850 | 43198191 | CTTTCTTT others(20): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 271 | 0.0037 | -27 | c.-69 others(46): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NIM1K_chr5_43187225_43285850 | 43213186 | TTTCTTTC others(20): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 273 | 0.0037 | -27 | c.-69 others(48): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NIM1K_chr5_43187225_43285850 | 43213190 | TTTCTTTC others(20): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG03831.hp1 NA19083.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0241 |
3 | 290 | 0.0103 | -27 | c.-69 others(48): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NIM1K_chr5_43187225_43285850 | 43279613 | TCAAACGA others(20): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0177 | 1 | 290 | 0.0034 | -27 | c.562 others(42): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
NIM1K_chr5_43187225_43285850 | 43280594 | TAGAGTCC others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG02165.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0177 | 1 | 290 | 0.0034 | -27 | c.117 others(36): Show |
p.Arg others(13): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 4/4 | 2060/2313 | 1179/1311 | 393/436 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
NINJ2_chr12_559296_668445 | 588146 | TGGCGGAA others(20): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 402 | 0.0025 | -27 | c.34- others(44): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 640714 | TCTTGTAC others(20): Show |
T | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 402 | 0.0025 | -27 | c.33+ others(44): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25493813 | ACTCGGGC others(20): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0154 |
2 | 308 | 0.0065 | -27 | c.131 others(46): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 10/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25542697 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 NA19062.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0149 a0005c0006t0001g0223 a0005c0006t0001g0224 |
3 | 12 | 0.2500 | -27 | c.-11 others(46): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NIPSNAP2_chr7_55959585_56005179 | 55963704 | TCTCTCTT others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 414 | 0.0024 | -27 | c.-90 others(36): Show |
NIPSNAP2 | ENSG00000146729.10 | transcript | ENST00000322090.8 | protein_coding | 880 | chr7 | TogoVar | |||||||
NIPSNAP2_chr7_55959585_56005179 | 55963708 | TCTTTCTT others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 others(1): Show |
4 | 414 | 0.0097 | -27 | c.-90 others(36): Show |
NIPSNAP2 | ENSG00000146729.10 | transcript | ENST00000322090.8 | protein_coding | 876 | chr7 | TogoVar | |||||||
NKAIN3_chr8_62243854_62989904 | 62427932 | ATTTTATT others(20): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0076 | 1 | 144 | 0.0069 | -27 | c.55- others(46): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62759091 | TTAAAAAT others(20): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 144 | 0.0069 | -27 | c.471 others(46): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
NKX2-6_chr8_23696740_23711756 | 23708481 | CCTTCTTC others(20): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 375 | 0.0053 | -27 | c.-19 others(38): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1726 | chr8 | TogoVar | |||||||
NKX2-6_chr8_23696740_23711756 | 23708495 | CTCCTCCT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 308 | 0.0032 | -27 | c.-19 others(38): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1740 | chr8 | TogoVar | |||||||
NKX2-6_chr8_23696740_23711756 | 23708498 | CTCCTCTT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 156 | 0.0064 | -27 | c.-19 others(38): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1743 | chr8 | TogoVar | |||||||
NLGN4X_chrX_5885042_6233867 | 6116387 | CTTTCTTT others(20): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 126 | 0.0079 | -27 | c.472 others(46): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 2/5 | chrX | TogoVar | |||||||
NLRP2_chr19_54961374_55006138 | 54975106 | GTTTTTTT others(20): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0400 | 1 | 13 | 0.0769 | -27 | c.325 others(42): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP2_chr19_54961374_55006138 | 54998611 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02896.hp2 HG02970.hp2 others(1): Show |
a0019a0023a0024others(1): Show | a0019c0059a0023c0045a0024c0062others(1): Show | a0019c0059t0016a0023c0045t0016a0024c0062t0015others(1): Show | a0019c0059t0016g0276 a0023c0045t0016g0003 a0024c0062t0015g0376 others(1): Show |
4 | 338 | 0.0118 | -27 | c.305 others(46): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55957670 | TAATTATA others(20): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0024 | a0004c0024t0004 | a0004c0024t0004g0222 | 1 | 322 | 0.0031 | -27 | c.204 others(46): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 3/9 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55957671 | AATTATAT others(20): Show |
A | intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0242 | 1 | 299 | 0.0033 | -27 | c.204 others(46): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NME7_chr1_169127531_169372797 | 169342580 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0294 | 1 | 279 | 0.0036 | -27 | c.4-1 others(42): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NME7_chr1_169127531_169372797 | 169342822 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 a0001c0001t0001g0262 |
2 | 300 | 0.0067 | -27 | c.4-1 others(42): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848225 | AAGAAGAA others(20): Show |
A | upstream_gene_variant | MODIFIER | NA18747.hp2 NA18957.hp1 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0225 a0002c0008t0001g0250 |
2 | 349 | 0.0057 | -27 | c.-74 others(36): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 371 | chr7 | TogoVar | |||||||
NMNAT2_chr1_183243237_183423380 | 183389817 | AAAGAAAG others(20): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 239 | 0.0042 | -27 | c.85+ others(44): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
NMNAT2_chr1_183243237_183423380 | 183389824 | GAAAGAAA others(20): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG02486.hp2 HG03942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0027 a0001c0001t0002g0013 a0001c0001t0003g0040 others(5): Show |
8 | 255 | 0.0314 | -27 | c.85+ others(44): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
NMT2_chr10_15100770_15173693 | 15112194 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0078 | 1 | 271 | 0.0037 | -27 | c.133 others(44): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 10/11 | chr10 | TogoVar | |||||||
NMT2_chr10_15100770_15173693 | 15112200 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0018 | 1 | 258 | 0.0039 | -27 | c.133 others(44): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 10/11 | chr10 | TogoVar | |||||||
NMT2_chr10_15100770_15173693 | 15112208 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0268 a0001c0002t0018g0271 |
2 | 265 | 0.0075 | -27 | c.133 others(44): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 10/11 | chr10 | TogoVar | |||||||
NMT2_chr10_15100770_15173693 | 15147095 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0150 | 1 | 69 | 0.0145 | -27 | c.111 others(44): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
NMUR2_chr5_152386546_152410279 | 152407845 | TATATATA others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 413 | 0.0048 | -27 | c.-27 others(38): Show |
NMUR2 | ENSG00000132911.5 | transcript | ENST00000255262.4 | protein_coding | 2567 | chr5 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32488791 | CTTTCTTT others(20): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0012 | 1 | 184 | 0.0054 | -27 | c.700 others(46): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475152 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 2 | 416 | 0.0048 | -27 | c.-13 others(38): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1229 | chr9 | TogoVar | |||||||
NOM1_chr7_156944712_156978176 | 156976415 | TCCCAGGT others(20): Show |
T | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0017 | 1 | 424 | 0.0024 | -27 | c.*67 others(38): Show |
NOM1 | ENSG00000146909.8 | transcript | ENST00000275820.4 | protein_coding | 3240 | chr7 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162261508 | GAGAGAGA others(20): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0154 | 1 | 175 | 0.0057 | -27 | c.178 others(46): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117263575 | CTATTATT others(20): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0009 | a0001c0009t0104 | a0001c0009t0104g0234 | 1 | 52 | 0.0192 | -27 | c.222 others(44): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 13/28 | chr12 | TogoVar | |||||||
NOS3_chr7_150986017_151019588 | 150997169 | AGAAGTCT others(20): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(10): Show | a0001c0001t0001g0057 a0001c0001t0001g0226 a0001c0001t0001g0233 others(46): Show |
67 | 374 | 0.1791 | -27 | c.582 others(42): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NOTCH3_chr19_15154038_15205995 | 15173733 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 NA18906.hp1 |
a0003 | a0003c0004a0003c0041 | a0003c0004t0001a0003c0041t0001 | a0003c0004t0001g0015 a0003c0004t0001g0141 a0003c0041t0001g0322 |
3 | 336 | 0.0089 | -27 | c.473 others(44): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 32939135 | CGCCGCCA others(20): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00738.hp2 HG03239.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0017a0002c0005t0016 | a0001c0001t0017g0064 a0002c0005t0016g0068 |
2 | 89 | 0.0225 | -27 | c.-17 others(36): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 1/12 | 152 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105636 | GTGATGGT others(20): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0052 | 1 | 325 | 0.0031 | -27 | c.*16 others(36): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 167 | chr20 | TogoVar | ||||||
NPEPL1_chr20_58687800_58720844 | 58703761 | GGCCTTCC others(20): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(9): Show | a0001c0001t0001g0241 a0001c0003t0001g0037 a0001c0003t0001g0049 others(31): Show |
39 | 396 | 0.0985 | -27 | c.822 others(44): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5882166 | ACTTACCC others(20): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01884.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0080 others(28): Show |
32 | 204 | 0.1569 | -27 | c.248 others(46): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5882324 | GCGCGCTT others(20): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG02602.hp1 HG02735.hp2 |
a0005 | a0005c0009a0005c0016 | a0005c0009t0001a0005c0016t0001 | a0005c0009t0001g0186 a0005c0009t0001g0192 a0005c0016t0001g0184 |
3 | 208 | 0.0144 | -27 | c.248 others(46): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | TogoVar | |||||||
NPIPB4_chr16_21829582_21862756 | 21849446 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | NA18983.hp1 NA18999.hp1 |
a0004a0016 | a0004c0006a0016c0061 | a0004c0006t0001a0016c0061t0001 | a0004c0006t0001g0108 a0016c0061t0001g0087 |
2 | 4 | 0.5000 | -27 | c.121 others(44): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB5_chr16_22505891_22541535 | 22521876 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0028 | a0028c0027 | a0028c0027t0013 | a0028c0027t0013g0040 | 1 | 8 | 0.1250 | -27 | c.121 others(44): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPIPB9_chr16_28746787_28777864 | 28758224 | GAGGGAGT others(20): Show |
G | intron_variant | MODIFIER | HG02602.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 |
2 | 178 | 0.0112 | -27 | c.121 others(44): Show |
NPIPB9 | ENSG00000196993.9 | transcript | ENST00000357796.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |