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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195816101 | G | GCAGGTGC others(37): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01346.hp2 others(4): Show |
a0005a0038a0043others(4): Show | a0005c0014a0038c0161a0043c0103others(4): Show | a0005c0014t0001a0038c0161t0015a0043c0103t0004others(4): Show | a0005c0014t0001g0097 a0038c0161t0015g0234 a0043c0103t0004g0238 others(4): Show |
7 | 248 | 0.0282 | 44 | c.-42 others(55): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4173 | chr3 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690701 | T | TATAAGTA others(37): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18612.hp2 NA18939.hp2 others(2): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0123 a0001c0002t0002g0100 a0001c0002t0003g0103 others(2): Show |
5 | 242 | 0.0207 | 44 | c.358 others(61): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690733 | T | TATAAGTA others(37): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0092 | 1 | 322 | 0.0031 | 44 | c.358 others(61): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(37): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 115 | 0.0087 | 44 | c.163 others(61): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843550 | G | GAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 204 | 0.0049 | 44 | c.163 others(61): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MXD4_chr4_2242432_2267109 | 2243915 | A | AACAGAGA others(37): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 2 | 247 | 0.0081 | 44 | c.*66 others(55): Show |
MXD4 | ENSG00000123933.17 | transcript | ENST00000337190.7 | protein_coding | 3516 | chr4 | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3316086 | C | CAGCGGCT others(37): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0146 a0006c0008t0003g0147 |
2 | 269 | 0.0074 | 44 | c.657 others(63): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3316086 | C | CGGCGGCT others(37): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
a0004a0006a0009others(3): Show | a0004c0004a0006c0008a0009c0021others(3): Show | a0004c0004t0003a0006c0008t0003a0009c0021t0001others(3): Show | a0004c0004t0003g0002 a0004c0004t0003g0140 a0004c0004t0003g0141 others(7): Show |
13 | 280 | 0.0464 | 44 | c.657 others(63): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | |||||||
MYBBP1A_chr17_4533904_4560384 | 4544674 | A | ACGGGGGT others(37): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03579.hp1 |
a0004a0041 | a0004c0024a0041c0098 | a0004c0024t0002a0004c0024t0004a0041c0098t0012 | a0004c0024t0002g0110 a0004c0024t0004g0323 a0041c0098t0012g0064 |
3 | 438 | 0.0068 | 44 | c.248 others(59): Show |
MYBBP1A | ENSG00000132382.15 | transcript | ENST00000254718.9 | protein_coding | 18/25 | chr17 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01071.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0003c0006t0001 | a0001c0001t0001g0032 a0001c0001t0001g0141 a0001c0001t0001g0142 others(5): Show |
9 | 26 | 0.3462 | 44 | c.655 others(59): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294104 | C | CTATATAT others(37): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0013 | a0013c0042 | a0013c0042t0001 | a0013c0042t0001g0109 | 1 | 204 | 0.0049 | 44 | c.378 others(61): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYL10_chr7_101608330_101634296 | 101609713 | C | CTCCCTGC others(37): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp2 others(58): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0006c0011others(2): Show | a0001c0001t0001a0001c0002t0001a0006c0011t0001others(2): Show | a0001c0001t0001g0042 a0001c0002t0001g0002 a0001c0002t0001g0007 others(35): Show |
61 | 377 | 0.1618 | 44 | c.*37 others(55): Show |
MYL10 | ENSG00000106436.8 | transcript | ENST00000223167.5 | protein_coding | 3616 | chr7 | TogoVar | |||||||
MYL12B_chr18_3257133_3283461 | 3281910 | T | TTTCCTTC others(37): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 13 | 0.0769 | 44 | c.*39 others(55): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 3450 | chr18 | TogoVar | |||||||
MYMK_chr9_133509586_133529959 | 133510355 | C | CTTTTTTT others(37): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 422 | 0.0024 | 44 | c.*42 others(55): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 4230 | chr9 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 109010957 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18964.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0015 | a0001c0002t0002g0109 a0001c0002t0015g0038 |
2 | 99 | 0.0202 | 44 | c.259 others(63): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023644 | A | AATATATG others(37): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02717.hp2 |
a0001a0007 | a0001c0066a0007c0023 | a0001c0066t0004a0007c0023t0001 | a0001c0066t0004g0063 a0007c0023t0001g0115 |
2 | 150 | 0.0133 | 44 | c.279 others(63): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25948523 | T | TCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0010 | a0010c0060 | a0010c0060t0001 | a0010c0060t0001g0065 | 1 | 203 | 0.0049 | 44 | c.574 others(61): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25948527 | T | TCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02970.hp2 |
a0010a0033 | a0010c0094a0033c0028 | a0010c0094t0001a0033c0028t0001 | a0010c0094t0001g0120 a0033c0028t0001g0107 |
2 | 5 | 0.4000 | 44 | c.574 others(61): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO1C_chr17_1459186_1497686 | 1488510 | C | CCTCTCCC others(37): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0302 | 1 | 428 | 0.0023 | 44 | c.75+ others(59): Show |
MYO1C | ENSG00000197879.17 | transcript | ENST00000648651.1 | protein_coding | 1/31 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0021 | 1 | 140 | 0.0071 | 44 | c.110 others(63): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282909 | G | GGGAGGGG others(37): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 224 | 0.0045 | 44 | c.4-1 others(59): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282911 | A | AGGGGGGG others(37): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 140 | 0.0071 | 44 | c.4-1 others(59): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282916 | G | GGGAGGGG others(37): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 212 | 0.0047 | 44 | c.4-1 others(59): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109443220 | G | GTGTGTAT others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02145.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0201 a0001c0003t0006g0202 a0001c0003t0006g0203 |
3 | 310 | 0.0097 | 44 | c.268 others(61): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75924529 | A | ATAATATA others(37): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0065 | 1 | 347 | 0.0029 | 44 | c.*95 others(55): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 4993 | chr6 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77192915 | G | GGTAGTTG others(37): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0214 | 1 | 166 | 0.0060 | 44 | c.415 others(61): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71910116 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 279 | 0.0036 | 44 | c.268 others(63): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71910168 | G | GTGTATAT others(37): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0006 | a0006c0007 | a0006c0007t0013 | a0006c0007t0013g0075 | 1 | 51 | 0.0196 | 44 | c.268 others(63): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956330 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0008 | a0008c0008 | a0008c0008t0042 | a0008c0008t0042g0208 | 1 | 67 | 0.0149 | 44 | c.218 others(63): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02145.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0094 |
2 | 15 | 0.1333 | 44 | c.730 others(61): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93482847 | A | ATATATAT others(37): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0020 | a0005c0020t0001 | a0005c0020t0001g0003 | 1 | 236 | 0.0042 | 44 | c.-65 others(53): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 514 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3165553 | C | CAAAGCCT others(37): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0015 | a0015c0030 | a0015c0030t0003 | a0015c0030t0003g0173 a0015c0030t0003g0174 |
2 | 328 | 0.0061 | 44 | c.134 others(63): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 9/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3193357 | T | TGTACATA others(37): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0181 | a0001c0181t0002 | a0001c0181t0002g0019 | 1 | 286 | 0.0035 | 44 | c.431 others(59): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 3/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2085587 | G | GGCACCCC others(37): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0027 | a0027c0055 | a0027c0055t0001 | a0027c0055t0001g0144 | 1 | 401 | 0.0025 | 44 | c.164 others(61): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2089227 | T | TCAAGGTT others(37): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00741.hp2 others(59): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0003a0001c0009others(31): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(37): Show | a0001c0002t0001g0323 a0001c0002t0002g0202 a0001c0002t0002g0203 others(59): Show |
62 | 157 | 0.3949 | 44 | c.164 others(61): 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(37): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01516.hp2 others(17): Show |
a0002a0004a0005others(10): Show | a0002c0016a0002c0019a0002c0102others(13): Show | a0002c0016t0001a0002c0019t0001a0002c0102t0002others(14): Show | a0002c0016t0001g0038 a0002c0016t0001g0039 a0002c0019t0001g0138 others(17): Show |
20 | 337 | 0.0593 | 44 | c.244 others(61): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0097 | a0002c0097t0006 | a0002c0097t0006g0050 | 1 | 323 | 0.0031 | 44 | c.345 others(63): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01358.hp1 others(6): Show |
a0001a0003a0017others(1): Show | a0001c0003a0001c0024a0001c0103others(3): Show | a0001c0003t0001a0001c0024t0002a0001c0103t0001others(3): Show | a0001c0003t0001g0014 a0001c0003t0001g0032 a0001c0003t0001g0215 others(6): Show |
9 | 331 | 0.0272 | 44 | c.345 others(63): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24067285 | T | TTTCTTTC others(37): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01192.hp1 others(5): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001 | a0002c0001t0001g0075 a0002c0001t0001g0180 a0002c0001t0001g0181 others(5): Show |
8 | 344 | 0.0233 | 44 | c.335 others(61): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 27/36 | chr1 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69877001 | G | GTCTTTCT others(37): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02895.hp1 HG04199.hp1 |
a0001a0007 | a0001c0003a0007c0010 | a0001c0003t0001a0007c0010t0003 | a0001c0003t0001g0153 a0001c0003t0001g0252 a0007c0010t0003g0314 |
3 | 283 | 0.0106 | 44 | c.138 others(61): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891635 | C | CTCTTTCT others(37): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0186 | 1 | 284 | 0.0035 | 44 | c.903 others(59): 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(37): Show |
intron_variant | MODIFIER | HG00597.hp2 NA19005.hp1 NA19240.hp1 |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0007 | a0001c0001t0001a0003c0006t0001a0004c0007t0002 | a0001c0001t0001g0202 a0003c0006t0001g0091 a0004c0007t0002g0297 |
3 | 146 | 0.0205 | 44 | c.903 others(59): 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(37): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02027.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0137 a0001c0002t0002g0145 |
2 | 100 | 0.0200 | 44 | c.166 others(63): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58651407 | A | AGTGTGTG others(37): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0127 a0001c0001t0021g0175 |
2 | 52 | 0.0385 | 44 | c.*85 others(55): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3335 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698084 | C | CTCTATAT others(37): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0004 | a0004c0004t0020 | a0004c0004t0020g0306 | 1 | 327 | 0.0031 | 44 | c.68+ others(59): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0090 | 1 | 36 | 0.0278 | 44 | c.68+ others(59): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG01928.hp1 NA19007.hp2 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0002g0075 |
3 | 38 | 0.0789 | 44 | c.68+ others(59): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18977.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0006 |
2 | 37 | 0.0541 | 44 | c.68+ others(59): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64174130 | C | CCTGTAGC others(37): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0108 others(1): Show |
4 | 206 | 0.0194 | 44 | c.-99 others(61): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174130 | C | CCTGTAGC others(37): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02258.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0005 | a0001c0001t0001g0088 a0001c0001t0003g0053 a0001c0002t0005g0116 |
3 | 205 | 0.0146 | 44 | c.-99 others(61): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |