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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1E_chr15_59127434_59377871 | 59282911 | A | AGGGGGGA others(41): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 140 | 0.0071 | 48 | c.4-1 others(63): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1G_chr7_44957662_44984015 | 44961454 | G | GGGGCTGA others(41): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01106.hp1 others(55): Show |
a0001a0002a0015 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(16): Show |
58 | 372 | 0.1559 | 48 | c.*12 others(59): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1207 | chr7 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109443082 | G | GTATGTGT others(41): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0127 | 1 | 30 | 0.0333 | 48 | c.268 others(65): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109443174 | A | ATGTGTGT others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01099.hp2 others(19): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0002 | a0001c0003t0002a0001c0004t0002a0003c0002t0002 | a0001c0003t0002g0250 a0001c0003t0002g0252 a0001c0003t0002g0253 others(19): Show |
22 | 279 | 0.0789 | 48 | c.268 others(65): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52232328 | G | GGAGAGAA others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02723.hp1 |
a0001 | a0001c0004a0001c0030 | a0001c0004t0003a0001c0030t0024 | a0001c0004t0003g0244 a0001c0030t0024g0322 |
2 | 73 | 0.0274 | 48 | c.302 others(65): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 24/40 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52232328 | G | GGAGAGAA others(41): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 72 | 0.0139 | 48 | c.302 others(65): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 24/40 | chr15 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77192915 | G | GGTAGTTG others(41): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01433.hp1 HG02683.hp2 others(3): Show |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0001a0004c0007t0001 | a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 others(3): Show |
6 | 171 | 0.0351 | 48 | c.415 others(65): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478832 | A | AGAAGAAA others(41): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0006 | a0006c0043 | a0006c0043t0001 | a0006c0043t0001g0043 | 1 | 153 | 0.0065 | 48 | c.88+ others(63): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086370 | G | GTGATCTT others(41): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0321 | 1 | 294 | 0.0034 | 48 | c.164 others(65): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100085 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02027.hp1 HG02109.hp2 others(10): Show |
a0005a0007a0008others(6): Show | a0005c0005a0007c0010a0007c0047others(7): Show | a0005c0005t0001a0007c0010t0001a0007c0047t0001others(8): Show | a0005c0005t0001g0212 a0007c0010t0001g0102 a0007c0010t0001g0314 others(10): Show |
13 | 330 | 0.0394 | 48 | c.244 others(65): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100109 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0116 | 1 | 284 | 0.0035 | 48 | c.244 others(65): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100117 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0004 | a0004c0051 | a0004c0051t0001 | a0004c0051t0001g0360 | 1 | 371 | 0.0027 | 48 | c.244 others(65): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100121 | C | CTTCTTTC others(41): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02896.hp1 |
a0002 | a0002c0105a0002c0123 | a0002c0105t0001a0002c0123t0001 | a0002c0105t0001g0341 a0002c0123t0001g0193 |
2 | 340 | 0.0059 | 48 | c.244 others(65): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24067309 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0140 | 1 | 255 | 0.0039 | 48 | c.335 others(65): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 27/36 | chr1 | TogoVar | |||||||
MYOM3_chr1_24051041_24117135 | 24113415 | C | CTCTCTCT others(41): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0348 | 1 | 125 | 0.0080 | 48 | c.-14 others(59): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1281 | chr1 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69877001 | G | GTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG02055.hp1 others(5): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0003a0001c0003t0001a0002c0002t0003others(4): Show | a0001c0001t0003g0228 a0001c0001t0003g0258 a0001c0003t0001g0280 others(5): Show |
8 | 288 | 0.0278 | 48 | c.138 others(65): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891637 | T | TTCTCTTT others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 |
a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0183 a0006c0009t0003g0184 |
2 | 145 | 0.0138 | 48 | c.903 others(63): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891637 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0085 | 1 | 144 | 0.0069 | 48 | c.903 others(63): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40192315 | T | TATATGAC others(41): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19240.hp2 |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0001a0006c0016t0008 | a0001c0001t0001g0033 a0006c0016t0008g0028 |
2 | 100 | 0.0200 | 48 | c.166 others(67): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0035 | 1 | 36 | 0.0278 | 48 | c.68+ others(63): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01934.hp2 HG03209.hp2 |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0005a0006c0007t0025 | a0002c0002t0005g0112 a0006c0007t0025g0014 |
2 | 37 | 0.0541 | 48 | c.68+ others(63): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1829254 | T | TTCCCATA others(41): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02165.hp1 HG02735.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0008a0001c0002t0002a0001c0004t0012others(7): Show | a0001c0001t0008g0009 a0001c0002t0002g0022 a0001c0002t0002g0033 others(11): Show |
14 | 84 | 0.1667 | 48 | c.308 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1829453 | A | ACACCTGT others(41): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 97 | 0.0103 | 48 | c.308 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1829477 | A | ACACCTGT others(41): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03486.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0079 a0001c0002t0003g0004 a0001c0004t0001g0040 others(1): Show |
4 | 89 | 0.0449 | 48 | c.308 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1829501 | A | ACACCTGT others(41): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18971.hp2 NA19012.hp2 |
a0001 | a0001c0001a0001c0019a0001c0022 | a0001c0001t0007a0001c0019t0002a0001c0022t0014 | a0001c0001t0007g0031 a0001c0019t0002g0061 a0001c0022t0014g0012 |
3 | 38 | 0.0789 | 48 | c.308 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1829619 | A | ATGCACCT others(41): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 102 | 0.0098 | 48 | c.308 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1829632 | C | CTGACCTT others(41): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp2 HG02897.hp1 others(6): Show |
a0001 | a0001c0005a0001c0008a0001c0015 | a0001c0005t0001a0001c0005t0002a0001c0005t0004others(5): Show | a0001c0005t0001g0085 a0001c0005t0002g0099 a0001c0005t0004g0088 others(6): Show |
9 | 100 | 0.0900 | 48 | c.308 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1829638 | C | CTCCCATG others(41): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0092 | 1 | 91 | 0.0110 | 48 | c.308 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1842866 | A | AGCTTCCG others(41): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02135.hp1 HG02135.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(3): Show | a0001c0001t0001g0034 a0001c0001t0007g0031 a0001c0002t0002g0033 others(4): Show |
7 | 39 | 0.1795 | 48 | c.277 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 19/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2004211 | G | GTTCTTTC others(41): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0087 | 1 | 102 | 0.0098 | 48 | c.-15 others(67): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64176425 | C | CCCTGGCT others(41): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 222 | 0.0045 | 48 | c.-99 others(67): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64235527 | A | ATGTGACC others(41): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0110 | 1 | 222 | 0.0045 | 48 | c.289 others(66): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64235834 | G | GTGGTGGG others(41): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0197 | 1 | 195 | 0.0051 | 48 | c.289 others(65): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64236284 | C | CTGGCCGC others(41): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 221 | 0.0045 | 48 | c.289 others(65): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(41): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0281 |
2 | 32 | 0.0625 | 48 | c.75+ others(63): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(41): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 31 | 0.0323 | 48 | c.75+ others(63): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(41): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0003 | a0003c0005 | a0003c0005t0010 | a0003c0005t0010g0310 | 1 | 31 | 0.0323 | 48 | c.75+ others(63): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174882622 | T | TATATGTG others(41): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 |
a0004a0008 | a0004c0002a0008c0019 | a0004c0002t0018a0008c0019t0014 | a0004c0002t0018g0003 a0008c0019t0014g0004 |
2 | 48 | 0.0417 | 48 | c.43+ others(65): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NADK_chr1_1746232_1783470 | 1760681 | T | TGAAGAGA others(41): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0086 | 1 | 411 | 0.0024 | 48 | c.263 others(65): Show |
NADK | ENSG00000008130.15 | transcript | ENST00000341426.9 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107638201 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02056.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0056a0003c0004t0016 | a0001c0001t0056g0062 a0003c0004t0016g0113 |
2 | 51 | 0.0392 | 48 | c.915 others(69): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NAP1L5_chr4_88690913_88702829 | 88698989 | T | TTTCCTCA others(41): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(84): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(4): Show |
87 | 330 | 0.2636 | 48 | c.-12 others(59): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1161 | chr4 | TogoVar | |||||||
NAP1L5_chr4_88690913_88702829 | 88698989 | T | TTTCCTCA others(41): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01891.hp2 HG02155.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0004c0005t0003 | a0001c0001t0001g0000 a0001c0001t0003g0000 a0004c0005t0003g0000 |
6 | 249 | 0.0241 | 48 | c.-12 others(59): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1161 | chr4 | TogoVar | |||||||
NAP1L5_chr4_88690913_88702829 | 88699028 | C | CACCCTCT others(41): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 4 | 307 | 0.0130 | 48 | c.-12 others(59): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1200 | chr4 | TogoVar | |||||||
NAP1L5_chr4_88690913_88702829 | 88699076 | C | CACCCTCT others(41): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(65): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0002g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 others(2): Show |
68 | 408 | 0.1667 | 48 | c.-13 others(59): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1248 | chr4 | TogoVar | |||||||
NAP1L5_chr4_88690913_88702829 | 88699085 | C | CTTCCTCA others(41): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 412 | 0.0049 | 48 | c.-13 others(59): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1257 | chr4 | TogoVar | |||||||
NAPSA_chr19_50353477_50370639 | 50358625 | G | GCCCACCC others(41): Show |
disruptive_inframe_insertion | MODERATE | HG00738.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0048 | 1 | 348 | 0.0029 | 48 | c.114 others(57): Show |
p.Gly others(61): Show |
NAPSA | ENSG00000131400.9 | transcript | ENST00000253719.7 | protein_coding | 9/9 | 1208/1357 | 1190/1263 | 397/420 | chr19 | TogoVar | |||
NAV2_chr11_19707837_20126601 | 19860046 | C | CCCCCCCA others(41): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0135 | a0003c0135t0039 | a0003c0135t0039g0137 | 1 | 165 | 0.0061 | 48 | c.439 others(65): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19860046 | C | CCCCCCCA others(41): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0068 | a0001c0068t0038 | a0001c0068t0038g0004 | 1 | 165 | 0.0061 | 48 | c.439 others(65): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19897886 | T | TTTTATAT others(41): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0045 | a0001c0045t0018 | a0001c0045t0018g0113 | 1 | 89 | 0.0112 | 48 | c.931 others(65): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148112152 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0232 | 1 | 276 | 0.0036 | 48 | c.163 others(67): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 15/23 | chr1 | TogoVar |