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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 342 | 0.0029 | 32 | c.327 others(47): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18972.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0327a0001c0001t0002g0094a0001c0001t0003g0331 | 3 | 342 | 0.0088 | 32 | c.327 others(47): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG00673.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190a0001c0001t0003g0337 | 2 | 342 | 0.0059 | 32 | c.327 others(47): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961744 | G | GCTGAGGG others(25): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00621.hp2 others(42): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0016others(15): Show | 45 | 378 | 0.1191 | 32 | c.*99 others(41): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 917 | chr7 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427907 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18960.hp2 |
a0003a0005 | a0003c0002a0005c0007 | a0003c0002t0002a0005c0007t0001 | a0003c0002t0002g0080a0005c0007t0001g0034 | 2 | 312 | 0.0064 | 32 | c.194 others(49): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109443048 | A | ATACACAT others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02145.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0201a0001c0003t0006g0202a0001c0003t0006g0203 | 3 | 312 | 0.0096 | 32 | c.268 others(49): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170174301 | T | TGTGTGTG others(25): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 174 | 0.0058 | 32 | c.-39 others(43): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 3845 | chr2 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0053 | a0001c0001t0001g0163a0001c0001t0053g0173 | 2 | 302 | 0.0066 | 32 | c.220 others(51): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49974798 | G | GACACACA others(25): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01934.hp1 HG01952.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0002c0003t0002a0003c0004t0003others(2): Show | a0001c0001t0001g0036a0002c0003t0002g0183a0003c0004t0003g0110others(2): Show | 5 | 238 | 0.0210 | 32 | c.105 others(49): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52232328 | G | GGAGAGAA others(25): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0019 | a0019c0023 | a0019c0023t0024 | a0019c0023t0024g0348 | 1 | 360 | 0.0028 | 32 | c.302 others(49): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 24/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52232328 | G | GGAGAGAA others(25): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02698.hp2 HG03017.hp1 others(34): Show |
a0001a0017 | a0001c0001a0001c0004a0017c0024 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0106a0001c0001t0002g0128a0001c0001t0002g0160others(34): Show | 37 | 360 | 0.1028 | 32 | c.302 others(49): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 24/40 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71928027 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 308 | 0.0033 | 32 | c.256 others(51): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01981.hp1 |
a0001a0019 | a0001c0001a0019c0023 | a0001c0001t0001a0019c0023t0001 | a0001c0001t0001g0144a0019c0023t0001g0204 | 2 | 308 | 0.0065 | 32 | c.256 others(51): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 308 | 0.0033 | 32 | c.256 others(51): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71956330 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 | 1 | 308 | 0.0033 | 32 | c.218 others(51): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71975390 | C | CGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02886.hp1 |
a0001a0008 | a0001c0002a0008c0009 | a0001c0002t0042a0008c0009t0024 | a0001c0002t0042g0014a0008c0009t0024g0269 | 2 | 308 | 0.0065 | 32 | c.184 others(51): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 12/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72035953 | T | TTTATGGA others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02630.hp1 others(2): Show |
a0001a0025a0026 | a0001c0013a0025c0031a0026c0030 | a0001c0013t0019a0025c0031t0021a0026c0030t0021 | a0001c0013t0019g0284a0001c0013t0019g0285a0001c0013t0019g0286others(2): Show | 5 | 308 | 0.0162 | 32 | c.841 others(49): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 2/41 | chr15 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17121463 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0056 | a0005c0056t0003 | a0005c0056t0003g0006 | 1 | 262 | 0.0038 | 32 | c.840 others(51): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYOF_chr10_93301429_93487334 | 93354666 | A | ACTCTCTC others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0086 | 1 | 240 | 0.0042 | 32 | c.340 others(49): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 31/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93369110 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 |
a0001 | a0001c0004a0001c0009 | a0001c0004t0003a0001c0009t0001 | a0001c0004t0003g0237a0001c0009t0001g0021 | 2 | 240 | 0.0083 | 32 | c.258 others(49): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 25/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01243.hp1 others(6): Show |
a0001a0005a0019 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0088a0001c0001t0001g0164a0001c0002t0001g0095others(6): Show | 9 | 240 | 0.0375 | 32 | c.200 others(51): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 240 | 0.0042 | 32 | c.200 others(51): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01952.hp1 HG01993.hp1 others(13): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(8): Show | a0001c0001t0001g0076a0001c0001t0001g0087a0001c0001t0001g0124others(13): Show | 16 | 240 | 0.0667 | 32 | c.730 others(49): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTTTATAT others(25): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 240 | 0.0042 | 32 | c.730 others(49): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0008 | 1 | 240 | 0.0042 | 32 | c.88+ others(47): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93482845 | T | TTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0085 | 1 | 240 | 0.0042 | 32 | c.-65 others(41): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 512 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93482859 | A | AAATAATT others(25): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0006 | 1 | 240 | 0.0042 | 32 | c.-66 others(41): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 526 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93483368 | A | ATTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 HG03471.hp2 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0001a0003c0007t0001 | a0001c0002t0001g0038a0003c0007t0001g0005 | 2 | 240 | 0.0083 | 32 | c.-11 others(43): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1035 | chr10 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TTATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0007 | a0007c0151 | a0007c0151t0001 | a0007c0151t0001g0079 | 1 | 330 | 0.0030 | 32 | c.*27 others(43): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3147125 | T | TATTATAG others(25): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0123 | a0002c0123t0002 | a0002c0123t0002g0069 | 1 | 330 | 0.0030 | 32 | c.190 others(51): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 13/37 | chr18 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100121 | C | CTTCTTTC others(25): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0048 | a0002c0048t0003 | a0002c0048t0003g0199 | 1 | 403 | 0.0025 | 32 | c.244 others(49): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM3_chr1_24051041_24117135 | 24067325 | C | CTTCTTTC others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0028 | a0028c0086 | a0028c0086t0011 | a0028c0086t0011g0062 | 1 | 364 | 0.0028 | 32 | c.335 others(49): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 27/36 | chr1 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24113415 | C | CTCTTTCT others(25): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0050 | a0050c0062 | a0050c0062t0003 | a0050c0062t0003g0353 | 1 | 364 | 0.0028 | 32 | c.-14 others(43): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1281 | chr1 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69877001 | G | GTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0232 | 1 | 322 | 0.0031 | 32 | c.138 others(49): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69891597 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0110 | 1 | 322 | 0.0031 | 32 | c.903 others(47): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69891635 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0253 | 1 | 322 | 0.0031 | 32 | c.903 others(47): 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(25): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG04204.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0003others(3): Show | a0001c0001t0001g0195a0001c0003t0001g0004a0001c0003t0001g0156others(4): Show | 7 | 322 | 0.0217 | 32 | c.903 others(47): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69891682 | T | TTTCTTTC others(25): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19000.hp1 |
a0002a0017 | a0002c0002a0017c0024 | a0002c0002t0002a0017c0024t0002 | a0002c0002t0002g0065a0017c0024t0002g0061 | 2 | 322 | 0.0062 | 32 | c.903 others(47): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40060596 | T | TGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18990.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0103a0001c0001t0001g0125 | 3 | 170 | 0.0177 | 32 | c.332 others(51): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40084485 | G | GTAGATAA others(25): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0008 | a0002c0008t0019 | a0002c0008t0019g0098 | 1 | 170 | 0.0059 | 32 | c.332 others(51): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40084681 | T | TACACATC others(25): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 170 | 0.0059 | 32 | c.332 others(51): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40084776 | A | ATATGTGT others(25): Show |
intron_variant | MODIFIER | HG03704.hp2 NA19240.hp1 |
a0002a0003 | a0002c0010a0003c0007 | a0002c0010t0004a0003c0007t0001 | a0002c0010t0004g0045a0003c0007t0001g0049 | 2 | 170 | 0.0118 | 32 | c.332 others(51): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40085053 | A | ATCTATGT others(25): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02258.hp2 HG02486.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0040a0001c0001t0001g0126a0001c0001t0003g0004others(14): Show | 17 | 170 | 0.1000 | 32 | c.332 others(51): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40203968 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03540.hp1 HG03704.hp2 others(4): Show |
a0001a0003 | a0001c0004a0003c0007a0003c0021 | a0001c0004t0001a0003c0007t0001a0003c0021t0001 | a0001c0004t0001g0025a0003c0007t0001g0049a0003c0007t0001g0064others(4): Show | 7 | 170 | 0.0412 | 32 | c.166 others(51): 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(25): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01496.hp2 HG02129.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0018others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0134a0001c0001t0001g0141others(10): Show | 13 | 410 | 0.0317 | 32 | c.*85 others(43): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3335 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0009a0002c0005t0006 | a0001c0001t0009g0230a0002c0005t0006g0261 | 2 | 410 | 0.0049 | 32 | c.68+ others(47): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0237 | 1 | 410 | 0.0024 | 32 | c.68+ others(47): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1842866 | A | AGCTTCCG others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02083.hp2 HG02647.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0004a0001c0001t0021a0001c0003t0003others(10): Show | a0001c0001t0004g0010a0001c0001t0021g0053a0001c0003t0003g0077others(10): Show | 13 | 104 | 0.1250 | 32 | c.277 others(51): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 19/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1934307 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02886.hp2 NA20300.hp2 |
a0001 | a0001c0007a0001c0009 | a0001c0007t0018a0001c0009t0022 | a0001c0007t0018g0068a0001c0009t0022g0062 | 2 | 104 | 0.0192 | 32 | c.505 others(49): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 9/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2005500 | A | ATTCTTTC others(25): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0015 | 1 | 104 | 0.0096 | 32 | c.-15 others(51): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar |