| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NBPF14_chr1_148526385_148601011 | 148526903 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02818.hp1 HG03516.hp1 |
a0036a0093 | a0036c0027a0093c0094 | a0036c0027t0004a0093c0094t0004 | a0036c0027t0004g0075a0036c0027t0004g0077a0093c0094t0004g0076 | 3 | 222 | 0.0135 | -8 | c.*60 others(19): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 4481 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148538201 | TAGACACA others(1): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03579.hp1 |
a0002a0119 | a0002c0043a0119c0152 | a0002c0043t0005a0119c0152t0001 | a0002c0043t0005g0015a0119c0152t0001g0210 | 2 | 222 | 0.0090 | -8 | c.793 others(25): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 64/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148542923 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02015.hp2 others(12): Show |
a0011a0017a0039others(7): Show | a0011c0003a0017c0014a0017c0046others(8): Show | a0011c0003t0001a0017c0014t0002a0017c0046t0002others(8): Show | a0011c0003t0001g0086a0011c0003t0001g0087a0011c0003t0001g0095others(12): Show | 15 | 222 | 0.0676 | -8 | c.720 others(25): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 58/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148542955 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02040.hp1 HG02109.hp1 others(15): Show |
a0005a0015a0018others(11): Show | a0005c0024a0005c0099a0005c0148others(13): Show | a0005c0024t0001a0005c0099t0001a0005c0148t0001others(13): Show | a0005c0024t0001g0059a0005c0099t0001g0080a0005c0148t0001g0085others(15): Show | 18 | 222 | 0.0811 | -8 | c.720 others(25): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 58/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148542957 | CACACAGA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG03017.hp2 NA19070.hp2 |
a0005a0046a0054 | a0005c0082a0046c0138a0054c0126 | a0005c0082t0001a0046c0138t0001a0054c0126t0001 | a0005c0082t0001g0058a0046c0138t0001g0177a0054c0126t0001g0163 | 3 | 222 | 0.0135 | -8 | c.720 others(25): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 58/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148561818 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02129.hp2 HG02572.hp2 others(5): Show |
a0015a0018a0112others(1): Show | a0015c0012a0018c0035a0018c0112others(3): Show | a0015c0012t0001a0018c0035t0001a0018c0112t0001others(3): Show | a0015c0012t0001g0073a0015c0012t0001g0078a0015c0012t0001g0079others(5): Show | 8 | 222 | 0.0360 | -8 | c.427 others(25): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 34/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148566534 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(42): Show |
a0002a0003a0006others(21): Show | a0002c0044a0002c0105a0002c0106others(31): Show | a0002c0044t0008a0002c0105t0001a0002c0106t0001others(32): Show | a0002c0044t0008g0007a0002c0105t0001g0128a0002c0106t0001g0130others(42): Show | 45 | 222 | 0.2027 | -8 | c.354 others(25): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 28/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148574422 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01168.hp1 others(5): Show |
a0012a0033a0046others(3): Show | a0012c0010a0033c0015a0046c0138others(3): Show | a0012c0010t0001a0033c0015t0001a0046c0138t0001others(3): Show | a0012c0010t0001g0110a0012c0010t0001g0137a0033c0015t0001g0126others(5): Show | 8 | 222 | 0.0360 | -8 | c.230 others(25): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 18/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148590492 | CAGCACCA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG03486.hp1 |
a0117a0118 | a0117c0150a0118c0149 | a0117c0150t0001a0118c0149t0001 | a0117c0150t0001g0213a0118c0149t0001g0212 | 2 | 222 | 0.0090 | -8 | c.778 others(23): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 6/70 | chr1 | TogoVar | ||||||
| NBPF15_chr1_144416390_144466669 | 144416912 | TATACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03017.hp1 HG03490.hp2 others(1): Show |
a0002a0011 | a0002c0014a0011c0015 | a0002c0014t0007a0002c0014t0013a0011c0015t0007 | a0002c0014t0007g0018a0002c0014t0013g0019a0011c0015t0007g0016others(1): Show | 4 | 394 | 0.0102 | -8 | c.*60 others(19): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 4477 | chr1 | TogoVar | ||||||
| NBPF15_chr1_144416390_144466669 | 144425105 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
a0002a0008a0012others(3): Show | a0002c0004a0008c0013a0012c0041others(3): Show | a0002c0004t0002a0008c0013t0004a0012c0041t0017others(3): Show | a0002c0004t0002g0040a0002c0004t0002g0042a0008c0013t0004g0026others(5): Show | 8 | 394 | 0.0203 | -8 | c.149 others(25): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 19/21 | chr1 | TogoVar | ||||||
| NBPF19_chr1_149470045_149561361 | 149481473 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(46): Show |
a0032a0033a0034others(40): Show | a0032c0012a0033c0011a0034c0013others(40): Show | a0032c0012t0002a0033c0011t0002a0034c0013t0002others(40): Show | a0032c0012t0002g0232a0032c0012t0002g0266a0033c0011t0002g0254others(46): Show | 49 | 276 | 0.1775 | -8 | c.772 others(23): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 6/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149481781 | ATCTATCA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 NA19240.hp2 NA20129.hp2 |
a0006 | a0006c0212a0006c0213a0006c0214 | a0006c0212t0002a0006c0213t0002a0006c0214t0002 | a0006c0212t0002g0223a0006c0213t0002g0224a0006c0214t0002g0265 | 3 | 276 | 0.0109 | -8 | c.773 others(23): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 6/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149487775 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(34): Show |
a0013a0032a0033others(29): Show | a0013c0035a0032c0012a0033c0011others(29): Show | a0013c0035t0001a0032c0012t0002a0033c0011t0002others(29): Show | a0013c0035t0001g0038a0013c0035t0001g0084a0032c0012t0002g0232others(34): Show | 37 | 276 | 0.1341 | -8 | c.104 others(25): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 9/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149505188 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02486.hp2 others(3): Show |
a0017a0018a0055others(1): Show | a0017c0019a0018c0018a0055c0086others(1): Show | a0017c0019t0001a0018c0018t0001a0055c0086t0001others(1): Show | a0017c0019t0001g0112a0017c0019t0001g0167a0018c0018t0001g0113others(3): Show | 6 | 276 | 0.0217 | -8 | c.368 others(25): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 31/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149509930 | CTCTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02027.hp1 HG02027.hp2 others(11): Show |
a0001a0005a0028others(9): Show | a0001c0001a0005c0004a0028c0032others(9): Show | a0001c0001t0001a0005c0004t0001a0028c0032t0001others(9): Show | a0001c0001t0001g0121a0005c0004t0001g0056a0005c0004t0001g0131others(11): Show | 14 | 276 | 0.0507 | -8 | c.441 others(25): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 37/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149524200 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | NA18977.hp1 NA18985.hp1 NA19079.hp2 others(1): Show |
a0005a0025 | a0005c0004a0025c0031 | a0005c0004t0001a0025c0031t0001 | a0005c0004t0001g0056a0005c0004t0001g0131a0005c0004t0001g0132others(1): Show | 4 | 276 | 0.0145 | -8 | c.661 others(25): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 55/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149541626 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(53): Show |
a0006a0015a0032others(43): Show | a0006c0211a0006c0212a0006c0213others(47): Show | a0006c0211t0019a0006c0212t0002a0006c0213t0002others(47): Show | a0006c0211t0019g0211a0006c0212t0002g0223a0006c0213t0002g0224others(52): Show | 56 | 276 | 0.2029 | -8 | c.931 others(25): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 77/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149546363 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(58): Show |
a0006a0032a0033others(50): Show | a0006c0212a0006c0213a0006c0214others(52): Show | a0006c0212t0002a0006c0213t0002a0006c0214t0002others(52): Show | a0006c0212t0002g0223a0006c0213t0002g0224a0006c0214t0002g0265others(58): Show | 61 | 276 | 0.2210 | -8 | c.100 others(27): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149551100 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01516.hp1 others(14): Show |
a0006a0020a0067others(10): Show | a0006c0211a0006c0212a0006c0213others(13): Show | a0006c0211t0019a0006c0212t0002a0006c0213t0002others(14): Show | a0006c0211t0019g0211a0006c0212t0002g0223a0006c0213t0002g0224others(14): Show | 17 | 276 | 0.0616 | -8 | c.107 others(27): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 89/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149560807 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(43): Show |
a0032a0033a0034others(37): Show | a0032c0012a0033c0011a0034c0013others(37): Show | a0032c0012t0002a0033c0011t0002a0034c0013t0002others(37): Show | a0032c0012t0002g0232a0032c0012t0002g0266a0033c0011t0002g0254others(43): Show | 46 | 276 | 0.1667 | -8 | c.*60 others(19): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 4447 | chr1 | TogoVar | ||||||
| NBPF3_chr1_21435137_21489900 | 21446446 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(30): Show |
a0002a0003a0007others(5): Show | a0002c0002a0002c0021a0003c0003others(6): Show | a0002c0002t0002a0002c0002t0006a0002c0021t0006others(8): Show | a0002c0002t0002g0116a0002c0002t0002g0117a0002c0002t0006g0016others(23): Show | 33 | 394 | 0.0838 | -8 | c.133 others(25): Show |
NBPF3 | ENSG00000142794.19 | transcript | ENST00000318249.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF3_chr1_21435137_21489900 | 21481387 | CCTCTGTC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(259): Show |
a0001a0003a0004others(12): Show | a0001c0001a0001c0027a0003c0003others(15): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(25): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(206): Show | 262 | 394 | 0.6650 | -8 | c.143 others(25): Show |
NBPF3 | ENSG00000142794.19 | transcript | ENST00000318249.10 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF4_chr1_108217464_108249076 | 108238276 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG03017.hp1 NA20752.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0040a0002c0003t0002g0041a0002c0003t0002g0042 | 3 | 134 | 0.0224 | -8 | c.784 others(23): Show |
NBPF4 | ENSG00000196427.14 | transcript | ENST00000415641.8 | protein_coding | 6/14 | chr1 | TogoVar | ||||||
| NBPF4_chr1_108217464_108249076 | 108241335 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG03704.hp1 NA18974.hp1 NA18988.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0004a0003c0002t0004a0004c0004t0002 | a0001c0001t0004g0031a0003c0002t0004g0032a0004c0004t0002g0005 | 5 | 134 | 0.0373 | -8 | c.279 others(23): Show |
NBPF4 | ENSG00000196427.14 | transcript | ENST00000415641.8 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
| NBPF8_chr1_120410035_120474676 | 120431359 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01891.hp2 others(4): Show |
a0002 | a0002c0001a0002c0013 | a0002c0001t0001a0002c0001t0010a0002c0001t0038others(2): Show | a0002c0001t0001g0167a0002c0001t0001g0168a0002c0001t0010g0166others(4): Show | 7 | 292 | 0.0240 | -8 | c.-29 others(27): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF8_chr1_120410035_120474676 | 120461016 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp1 others(12): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0045a0005c0036others(2): Show | a0001c0002t0008a0001c0045t0065a0005c0036t0005others(3): Show | a0001c0002t0008g0002a0001c0002t0008g0061a0001c0002t0008g0062others(11): Show | 15 | 292 | 0.0514 | -8 | c.185 others(25): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF8_chr1_120410035_120474676 | 120464115 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01516.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0002a0001c0042 | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(1): Show | a0001c0002t0002g0017a0001c0002t0002g0041a0001c0002t0002g0047others(5): Show | 9 | 292 | 0.0308 | -8 | c.230 others(25): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF8_chr1_120410035_120474676 | 120464133 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01070.hp1 others(6): Show |
a0001 | a0001c0007a0001c0043 | a0001c0007t0007a0001c0007t0057a0001c0043t0007 | a0001c0007t0007g0003a0001c0007t0007g0084a0001c0007t0007g0085others(5): Show | 9 | 292 | 0.0308 | -8 | c.230 others(25): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF8_chr1_120410035_120474676 | 120471324 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0010a0001c0045 | a0001c0010t0032a0001c0010t0058a0001c0010t0059others(5): Show | a0001c0010t0032g0075a0001c0010t0032g0078a0001c0010t0058g0076others(6): Show | 9 | 292 | 0.0308 | -8 | c.*51 others(19): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 1649 | chr1 | TogoVar | ||||||
| NBPF9_chr1_149047186_149108551 | 149053907 | CACACACA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(92): Show |
a0002a0007a0008others(5): Show | a0002c0002a0002c0011a0002c0029others(7): Show | a0002c0002t0001a0002c0002t0018a0002c0002t0019others(24): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0011others(86): Show | 95 | 344 | 0.2762 | -8 | c.*17 others(19): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 30/30 | 1741 | chr1 | TogoVar | |||||
| NBPF9_chr1_149047186_149108551 | 149057704 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00733.hp1 others(44): Show |
a0001a0014a0015others(2): Show | a0001c0001a0014c0014a0015c0022others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(12): Show | a0001c0001t0003g0002a0001c0001t0003g0006a0001c0001t0003g0058others(41): Show | 47 | 344 | 0.1366 | -8 | c.281 others(25): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 27/29 | chr1 | TogoVar | ||||||
| NBPF9_chr1_149047186_149108551 | 149057750 | CACAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02683.hp1 HG02818.hp1 others(2): Show |
a0002a0004a0005others(2): Show | a0002c0002a0004c0004a0005c0005others(2): Show | a0002c0002t0063a0004c0004t0002a0005c0005t0083others(2): Show | a0002c0002t0063g0170a0004c0004t0002g0285a0005c0005t0083g0284others(2): Show | 5 | 344 | 0.0145 | -8 | c.281 others(25): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 27/29 | chr1 | TogoVar | ||||||
| NBPF9_chr1_149047186_149108551 | 149057752 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02083.hp1 HG02523.hp2 others(22): Show |
a0002 | a0002c0002a0002c0029 | a0002c0002t0001a0002c0002t0018a0002c0002t0032others(5): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0187others(17): Show | 25 | 344 | 0.0727 | -8 | c.281 others(25): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 27/29 | chr1 | TogoVar | ||||||
| NBPF9_chr1_149047186_149108551 | 149097078 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp2 others(36): Show |
a0003a0037a0038others(2): Show | a0003c0003a0037c0028a0038c0026others(2): Show | a0003c0003t0002a0003c0003t0020a0003c0003t0039others(11): Show | a0003c0003t0002g0012a0003c0003t0002g0243a0003c0003t0002g0244others(35): Show | 39 | 344 | 0.1134 | -8 | c.-33 others(27): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 4/29 | chr1 | TogoVar | ||||||
| NBR1_chr17_43166214_43216688 | 43177572 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp1 others(44): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004a0002c0002t0002g0014a0002c0002t0002g0015others(39): Show | 47 | 314 | 0.1497 | -8 | c.103 others(23): Show |
NBR1 | ENSG00000188554.15 | transcript | ENST00000590996.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| NBR1_chr17_43166214_43216688 | 43186003 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(114): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(95): Show | 117 | 314 | 0.3726 | -8 | c.208 others(23): Show |
NBR1 | ENSG00000188554.15 | transcript | ENST00000590996.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| NBR1_chr17_43166214_43216688 | 43214210 | AAAAAAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(108): Show |
a0002a0004a0007others(1): Show | a0002c0002a0004c0004a0007c0006others(1): Show | a0002c0002t0002a0002c0002t0013a0004c0004t0004others(2): Show | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0005others(90): Show | 111 | 314 | 0.3535 | -8 | c.*41 others(19): Show |
NBR1 | ENSG00000188554.15 | transcript | ENST00000590996.6 | protein_coding | 2523 | chr17 | TogoVar | ||||||
| NCALD_chr8_101681542_101795969 | 101732590 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02083.hp2 HG02258.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0035a0001c0001t0006g0028a0001c0001t0006g0080others(11): Show | 16 | 300 | 0.0533 | -8 | c.-19 others(27): Show |
NCALD | ENSG00000104490.18 | transcript | ENST00000220931.11 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
| NCALD_chr8_101681542_101795969 | 101741763 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00738.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0039a0001c0001t0001g0174others(59): Show | 65 | 300 | 0.2167 | -8 | c.-19 others(27): Show |
NCALD | ENSG00000104490.18 | transcript | ENST00000220931.11 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
| NCALD_chr8_101681542_101795969 | 101764008 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp1 HG01106.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0025a0001c0001t0001g0034a0001c0001t0001g0055others(27): Show | 30 | 300 | 0.1000 | -8 | c.-20 others(27): Show |
NCALD | ENSG00000104490.18 | transcript | ENST00000220931.11 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
| NCAM1_chr11_112956420_113283436 | 113000817 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0210others(46): Show | 49 | 242 | 0.2025 | -8 | c.52+ others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113011964 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp2 HG01261.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0099a0001c0001t0001g0102a0001c0001t0001g0106others(20): Show | 24 | 242 | 0.0992 | -8 | c.52+ others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113025778 | CGAGAGAG others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01952.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0052a0001c0002t0001others(1): Show | a0001c0001t0004g0009a0001c0001t0004g0135a0001c0001t0052g0137others(2): Show | 5 | 242 | 0.0207 | -8 | c.52+ others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113046881 | GGAAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(239): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0007a0001c0001t0001g0030a0001c0001t0001g0062others(238): Show | 242 | 242 | 1.0000 | -8 | c.52+ others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113055978 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01516.hp2 HG02004.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0146a0001c0001t0001g0157others(15): Show | 18 | 242 | 0.0744 | -8 | c.52+ others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113153446 | CAGAGAGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01109.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0001g0106others(25): Show | 28 | 242 | 0.1157 | -8 | c.53- others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113169036 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02015.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0001g0181a0001c0001t0007g0011a0001c0001t0007g0012others(3): Show | 6 | 242 | 0.0248 | -8 | c.53- others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113169064 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01934.hp1 HG02165.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0147a0001c0001t0002g0238a0001c0001t0004g0231others(9): Show | 12 | 242 | 0.0496 | -8 | c.53- others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113171633 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0006a0001c0008t0001 | a0001c0001t0006g0057a0001c0001t0006g0059a0001c0008t0001g0058 | 3 | 242 | 0.0124 | -8 | c.53- others(25): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |