| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NIBAN1_chr1_184786032_184979508 | 184786897 | ATCTCTCT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01243.hp2 HG02257.hp1 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0009a0002c0003t0003others(5): Show | a0001c0001t0001g0190a0001c0002t0009g0073a0002c0003t0003g0091others(8): Show | 11 | 256 | 0.0430 | -8 | c.*80 others(19): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 4134 | chr1 | TogoVar | ||||||
| NIBAN1_chr1_184786032_184979508 | 184899807 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02630.hp2 others(6): Show |
a0001a0002a0005others(2): Show | a0001c0002a0002c0022a0005c0006others(2): Show | a0001c0002t0001a0001c0002t0016a0002c0022t0013others(3): Show | a0001c0002t0001g0059a0001c0002t0001g0060a0001c0002t0001g0061others(6): Show | 9 | 256 | 0.0352 | -8 | c.56- others(21): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| NIBAN1_chr1_184786032_184979508 | 184958364 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG02258.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0016others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0012a0001c0002t0001g0015others(8): Show | 12 | 256 | 0.0469 | -8 | c.55+ others(25): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| NIBAN2_chr9_127500343_127574073 | 127520229 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0121a0001c0001t0002g0123a0001c0001t0002g0135others(165): Show | 170 | 332 | 0.5121 | -8 | c.590 others(25): Show |
NIBAN2 | ENSG00000136830.12 | transcript | ENST00000373312.4 | protein_coding | 5/13 | chr9 | TogoVar | ||||||
| NIBAN2_chr9_127500343_127574073 | 127523192 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG02109.hp1 HG02630.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0187a0001c0001t0001g0199a0001c0001t0001g0202others(7): Show | 10 | 332 | 0.0301 | -8 | c.589 others(23): Show |
NIBAN2 | ENSG00000136830.12 | transcript | ENST00000373312.4 | protein_coding | 5/13 | chr9 | TogoVar | ||||||
| NIBAN2_chr9_127500343_127574073 | 127556456 | GCATTCAT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0315a0001c0001t0003g0001a0001c0001t0003g0116others(32): Show | 36 | 332 | 0.1084 | -8 | c.55+ others(25): Show |
NIBAN2 | ENSG00000136830.12 | transcript | ENST00000373312.4 | protein_coding | 1/13 | chr9 | TogoVar | ||||||
| NIBAN3_chr19_17522267_17558640 | 17531326 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02257.hp2 HG02486.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0007others(3): Show | a0001c0001t0009a0001c0001t0027a0002c0002t0003others(4): Show | a0001c0001t0009g0018a0001c0001t0009g0019a0001c0001t0009g0150others(13): Show | 20 | 404 | 0.0495 | -8 | c.186 others(23): Show |
NIBAN3 | ENSG00000167483.19 | transcript | ENST00000599164.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NIBAN3_chr19_17522267_17558640 | 17541222 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(44): Show |
a0001a0007a0010others(1): Show | a0001c0001a0007c0010a0010c0015others(1): Show | a0001c0001t0004a0001c0001t0047a0001c0001t0048others(4): Show | a0001c0001t0004g0001a0001c0001t0004g0011a0001c0001t0004g0036others(36): Show | 47 | 404 | 0.1163 | -8 | c.117 others(25): Show |
NIBAN3 | ENSG00000167483.19 | transcript | ENST00000599164.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NIBAN3_chr19_17522267_17558640 | 17541230 | TATACATA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(28): Show | a0001c0001t0001g0341a0001c0001t0010g0302a0001c0001t0010g0344others(137): Show | 157 | 404 | 0.3886 | -8 | c.117 others(25): Show |
NIBAN3 | ENSG00000167483.19 | transcript | ENST00000599164.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NIBAN3_chr19_17522267_17558640 | 17552913 | AAAATAAA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG02145.hp1 HG02257.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0014a0001c0005t0014a0002c0002t0008others(7): Show | a0001c0001t0014g0100a0001c0001t0014g0102a0001c0001t0014g0221others(17): Show | 21 | 404 | 0.0520 | -8 | c.*10 others(19): Show |
NIBAN3 | ENSG00000167483.19 | transcript | ENST00000599164.6 | protein_coding | 15/15 | 1051 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NID1_chr1_235970830_236070090 | 235998911 | GCTCAGAG others(1): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG03041.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0007a0002c0002t0001a0003c0007t0003 | a0001c0001t0007g0300a0001c0001t0007g0301a0002c0002t0001g0318others(1): Show | 4 | 334 | 0.0120 | -8 | c.252 others(27): Show |
NID1 | ENSG00000116962.15 | transcript | ENST00000264187.7 | protein_coding | 12/19 | chr1 | TogoVar | ||||||
| NID1_chr1_235970830_236070090 | 236002503 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | NA19001.hp2 NA19060.hp2 NA19074.hp1 others(1): Show |
a0001a0002 | a0001c0006a0002c0008 | a0001c0006t0002a0002c0008t0001 | a0001c0006t0002g0203a0001c0006t0002g0204a0001c0006t0002g0208others(1): Show | 4 | 334 | 0.0120 | -8 | c.252 others(27): Show |
NID1 | ENSG00000116962.15 | transcript | ENST00000264187.7 | protein_coding | 12/19 | chr1 | TogoVar | ||||||
| NID1_chr1_235970830_236070090 | 236045206 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp1 others(180): Show |
a0001a0002a0005others(23): Show | a0001c0001a0001c0006a0001c0020others(37): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(51): Show | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0131others(178): Show | 183 | 334 | 0.5479 | -8 | c.752 others(23): Show |
NID1 | ENSG00000116962.15 | transcript | ENST00000264187.7 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
| NID1_chr1_235970830_236070090 | 236052341 | GACACAGG others(1): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01243.hp2 others(23): Show |
a0001a0002a0008others(4): Show | a0001c0001a0002c0002a0002c0043others(8): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0003others(13): Show | a0001c0001t0004g0314a0001c0001t0004g0315a0001c0001t0004g0316others(23): Show | 26 | 334 | 0.0778 | -8 | c.226 others(25): Show |
NID1 | ENSG00000116962.15 | transcript | ENST00000264187.7 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
| NID2_chr14_51999809_52074059 | 52030516 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0198a0001c0022t0001g0026a0001c0022t0001g0088 | 3 | 372 | 0.0081 | -8 | c.225 others(25): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar | ||||||
| NID2_chr14_51999809_52074059 | 52030573 | GAAGGGAA others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 NA18906.hp1 |
a0001a0010a0026 | a0001c0007a0010c0016a0026c0066 | a0001c0007t0001a0010c0016t0001a0026c0066t0001 | a0001c0007t0001g0089a0010c0016t0001g0347a0026c0066t0001g0325 | 3 | 372 | 0.0081 | -8 | c.225 others(25): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar | ||||||
| NID2_chr14_51999809_52074059 | 52030577 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(123): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0007a0001c0032others(19): Show | a0001c0005t0001a0001c0007t0001a0001c0007t0002others(21): Show | a0001c0005t0001g0174a0001c0007t0001g0081a0001c0007t0001g0180others(123): Show | 126 | 372 | 0.3387 | -8 | c.225 others(25): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar | ||||||
| NID2_chr14_51999809_52074059 | 52065482 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01167.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0207others(4): Show | 7 | 372 | 0.0188 | -8 | c.534 others(25): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 2/21 | chr14 | TogoVar | ||||||
| NIM1K_chr5_43187225_43285850 | 43198131 | ATTTCTTT others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp2 NA18612.hp2 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0090a0001c0001t0001g0167 | 3 | 292 | 0.0103 | -8 | c.-69 others(27): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NIM1K_chr5_43187225_43285850 | 43199204 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00738.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0088others(15): Show | 18 | 292 | 0.0616 | -8 | c.-69 others(27): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NIM1K_chr5_43187225_43285850 | 43213157 | CTTTCTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(20): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0085a0001c0001t0001g0133a0001c0001t0001g0157others(19): Show | 23 | 292 | 0.0788 | -8 | c.-69 others(29): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NIM1K_chr5_43187225_43285850 | 43213165 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG01361.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0094a0001c0001t0001g0109others(8): Show | 11 | 292 | 0.0377 | -8 | c.-69 others(29): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NIM1K_chr5_43187225_43285850 | 43225260 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01515.hp2 HG01517.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0006a0004c0008 | a0001c0001t0001a0002c0006t0001a0004c0008t0001 | a0001c0001t0001g0011a0001c0001t0001g0090a0001c0001t0001g0115others(7): Show | 10 | 292 | 0.0343 | -8 | c.-69 others(29): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NIM1K_chr5_43187225_43285850 | 43253212 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(104): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0047a0001c0001t0001g0061a0001c0001t0001g0067others(102): Show | 107 | 292 | 0.3664 | -8 | c.292 others(25): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NINJ2_chr12_559296_668445 | 591849 | AAGAGTGA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0371a0001c0001t0001g0399 | 3 | 404 | 0.0074 | -8 | c.34- others(25): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
| NINJ2_chr12_559296_668445 | 600653 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp2 HG02055.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0032others(15): Show | 18 | 404 | 0.0446 | -8 | c.34- others(25): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
| NINL_chr20_25447697_25590531 | 25472324 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG02155.hp1 others(7): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0124a0001c0001t0001g0127a0001c0001t0001g0137others(7): Show | 10 | 310 | 0.0323 | -8 | c.324 others(27): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 17/23 | chr20 | TogoVar | ||||||
| NINL_chr20_25447697_25590531 | 25473675 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG01515.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0189a0002c0002t0001g0003a0002c0002t0001g0004others(23): Show | 26 | 310 | 0.0839 | -8 | c.324 others(27): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 17/23 | chr20 | TogoVar | ||||||
| NIN_chr14_50714763_50836162 | 50765063 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
a0001a0026 | a0001c0011a0001c0025a0026c0033 | a0001c0011t0001a0001c0025t0011a0026c0033t0011 | a0001c0011t0001g0008a0001c0011t0001g0011a0001c0011t0001g0227others(3): Show | 6 | 292 | 0.0206 | -8 | c.163 others(27): Show |
NIN | ENSG00000100503.27 | transcript | ENST00000530997.7 | protein_coding | 14/30 | chr14 | TogoVar | ||||||
| NIN_chr14_50714763_50836162 | 50768052 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00733.hp2 others(31): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0005a0001c0006others(5): Show | a0001c0002t0003a0001c0005t0001a0001c0006t0003others(6): Show | a0001c0002t0003g0017a0001c0002t0003g0018a0001c0005t0001g0147others(31): Show | 34 | 292 | 0.1164 | -8 | c.143 others(27): Show |
NIN | ENSG00000100503.27 | transcript | ENST00000530997.7 | protein_coding | 12/30 | chr14 | TogoVar | ||||||
| NIN_chr14_50714763_50836162 | 50800007 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02280.hp1 others(7): Show |
a0001a0006a0007others(1): Show | a0001c0002a0001c0027a0001c0028others(5): Show | a0001c0002t0003a0001c0027t0012a0001c0028t0003others(5): Show | a0001c0002t0003g0009a0001c0002t0003g0131a0001c0002t0003g0236others(7): Show | 10 | 292 | 0.0343 | -8 | c.265 others(25): Show |
NIN | ENSG00000100503.27 | transcript | ENST00000530997.7 | protein_coding | 4/30 | chr14 | TogoVar | ||||||
| NIN_chr14_50714763_50836162 | 50811544 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(61): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0005a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(28): Show | a0001c0002t0001g0242a0001c0002t0002g0203a0001c0002t0003g0236others(60): Show | 64 | 292 | 0.2192 | -8 | c.184 others(25): Show |
NIN | ENSG00000100503.27 | transcript | ENST00000530997.7 | protein_coding | 3/30 | chr14 | TogoVar | ||||||
| NIPA1_chr15_22781644_22834789 | 22791492 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp2 HG02055.hp1 others(5): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0017a0002c0003t0046a0002c0003t0048others(1): Show | a0002c0003t0017g0267a0002c0003t0017g0268a0002c0003t0017g0269others(5): Show | 8 | 400 | 0.0200 | -8 | c.178 others(25): Show |
NIPA1 | ENSG00000170113.16 | transcript | ENST00000337435.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| NIPA1_chr15_22781644_22834789 | 22799964 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01069.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0070a0001c0001t0002g0159a0001c0001t0002g0299others(26): Show | 30 | 400 | 0.0750 | -8 | c.179 others(27): Show |
NIPA1 | ENSG00000170113.16 | transcript | ENST00000337435.9 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
| NIPA2_chr15_22833666_22873384 | 22848825 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01346.hp1 others(6): Show |
a0000 | a0000c0005 | a0000c0005t0011a0000c0005t0016a0000c0005t0027 | a0000c0005t0011g0020a0000c0005t0011g0230a0000c0005t0011g0243others(4): Show | 9 | 432 | 0.0208 | -8 | c.-93 others(25): Show |
NIPA2 | ENSG00000140157.16 | transcript | ENST00000337451.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| NIPA2_chr15_22833666_22873384 | 22852554 | CTTCGACA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01074.hp2 others(32): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0020a0001c0003t0028others(1): Show | a0001c0003t0003g0035a0001c0003t0003g0036a0001c0003t0003g0252others(30): Show | 35 | 432 | 0.0810 | -8 | c.140 others(23): Show |
NIPA2 | ENSG00000140157.16 | transcript | ENST00000337451.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| NIPAL2_chr8_98184826_98299235 | 98185046 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0037a0001c0001t0002g0046a0001c0001t0002g0047others(64): Show | 69 | 332 | 0.2078 | -8 | c.*79 others(19): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 4779 | chr8 | TogoVar | ||||||
| NIPAL2_chr8_98184826_98299235 | 98259069 | CCTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0005 | a0001c0001t0003g0118a0001c0001t0004g0018a0001c0002t0005g0081 | 3 | 332 | 0.0090 | -8 | c.136 others(25): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| NIPAL3_chr1_24410802_24477976 | 24414531 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0256a0001c0001t0004g0006a0001c0001t0004g0257others(5): Show | 9 | 380 | 0.0237 | -8 | c.-16 others(19): Show |
NIPAL3 | ENSG00000001461.17 | transcript | ENST00000374399.9 | protein_coding | 1270 | chr1 | TogoVar | ||||||
| NIPAL3_chr1_24410802_24477976 | 24428258 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00733.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0306a0001c0001t0001g0309a0001c0001t0001g0311others(21): Show | 26 | 380 | 0.0684 | -8 | c.93+ others(23): Show |
NIPAL3 | ENSG00000001461.17 | transcript | ENST00000374399.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NIPBL_chr5_36871769_37071413 | 36992710 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01346.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0096others(5): Show | 8 | 328 | 0.0244 | -8 | c.312 others(27): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NIPBL_chr5_36871769_37071413 | 37014955 | CGGGGGAA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
a0003a0005 | a0003c0005a0005c0009 | a0003c0005t0001a0005c0009t0006 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | 328 | 0.0152 | -8 | c.464 others(25): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | TogoVar | ||||||
| NIPBL_chr5_36871769_37071413 | 37032386 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00733.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0020others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0020t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0091others(35): Show | 38 | 328 | 0.1159 | -8 | c.586 others(27): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NIPBL_chr5_36871769_37071413 | 37066552 | GGGTTGGT others(1): Show |
G | downstream_gene_variant | MODIFIER | NA18977.hp2 NA19065.hp2 NA19090.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0121a0002c0003t0001g0123a0002c0003t0001g0125 | 3 | 328 | 0.0092 | -8 | c.*16 others(19): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 140 | chr5 | TogoVar | ||||||
| NIPSNAP2_chr7_55959585_56005179 | 55976039 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0007a0001c0001t0002g0015a0001c0001t0002g0016others(43): Show | 60 | 416 | 0.1442 | -8 | c.93- others(23): Show |
NIPSNAP2 | ENSG00000146729.10 | transcript | ENST00000322090.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NIT2_chr3_100329757_100366635 | 100332003 | GTTTTGTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01978.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0051 | 3 | 396 | 0.0076 | -8 | c.-27 others(19): Show |
NIT2 | ENSG00000114021.12 | transcript | ENST00000394140.9 | protein_coding | 2753 | chr3 | TogoVar | ||||||
| NKAIN1_chr1_31174745_31244887 | 31175438 | AAAATAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 HG03225.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279a0001c0001t0003g0281a0001c0001t0003g0282 | 3 | 338 | 0.0089 | -8 | c.*62 others(19): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 4306 | chr1 | TogoVar | ||||||
| NKAIN1_chr1_31174745_31244887 | 31194767 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02080.hp1 HG02129.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094a0001c0001t0003g0111a0001c0001t0003g0212others(14): Show | 17 | 338 | 0.0503 | -8 | c.55- others(23): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
| NKAIN1_chr1_31174745_31244887 | 31196697 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0007a0001c0001t0002g0064a0001c0001t0002g0097others(59): Show | 62 | 338 | 0.1834 | -8 | c.55- others(23): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
| NKAIN1_chr1_31174745_31244887 | 31203345 | GACAGTGC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(122): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(122): Show | 125 | 338 | 0.3698 | -8 | c.55- others(25): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar |