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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYNE1_chr6_152116687_152642362 | 152179673 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0062 | a0062c0103 | a0062c0103t0004 | a0062c0103t0004g0092 | 1 | 174 | 0.0058 | 18 | c.234 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 129/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152241500 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02809.hp2 HG03098.hp2 others(3): Show |
a0024a0039a0073others(3): Show | a0024c0003a0039c0011a0073c0076others(3): Show | a0024c0003t0004a0039c0011t0002a0073c0076t0013others(3): Show | a0024c0003t0004g0032 a0039c0011t0002g0065 a0073c0076t0013g0002 others(3): Show |
6 | 174 | 0.0345 | 18 | c.198 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 107/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152241506 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 |
a0002a0038 | a0002c0063a0038c0083 | a0002c0063t0002a0038c0083t0004 | a0002c0063t0002g0079 a0038c0083t0004g0042 |
2 | 174 | 0.0115 | 18 | c.198 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 107/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152241527 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01433.hp1 others(15): Show |
a0001a0004a0014others(15): Show | a0001c0008a0004c0092a0014c0130others(15): Show | a0001c0008t0003a0004c0092t0001a0014c0130t0002others(15): Show | a0001c0008t0003g0022 a0004c0092t0001g0028 a0014c0130t0002g0118 others(15): Show |
18 | 174 | 0.1035 | 18 | c.198 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 107/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63919972 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02071.hp1 HG02523.hp2 others(4): Show |
a0003a0012a0035 | a0003c0002a0003c0015a0003c0034others(2): Show | a0003c0002t0001a0003c0015t0003a0003c0034t0001others(2): Show | a0003c0002t0001g0005 a0003c0002t0001g0091 a0003c0015t0003g0012 others(4): Show |
7 | 150 | 0.0467 | 18 | c.79+ others(35): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 2/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63944278 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18906.hp1 |
a0008 | a0008c0011 | a0008c0011t0004a0008c0011t0010 | a0008c0011t0004g0029 a0008c0011t0010g0054 |
2 | 150 | 0.0133 | 18 | c.408 others(35): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63944824 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02965.hp2 |
a0040a0047 | a0040c0029a0047c0027 | a0040c0029t0002a0047c0027t0001 | a0040c0029t0002g0086 a0047c0027t0001g0083 |
2 | 150 | 0.0133 | 18 | c.408 others(35): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974882 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0012 | a0012c0008 | a0012c0008t0002 | a0012c0008t0002g0007 | 1 | 150 | 0.0067 | 18 | c.112 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974884 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0021 | a0021c0099 | a0021c0099t0003 | a0021c0099t0003g0081 | 1 | 150 | 0.0067 | 18 | c.112 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974888 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02897.hp1 HG04199.hp2 |
a0002a0013a0045 | a0002c0001a0013c0020a0045c0084 | a0002c0001t0002a0013c0020t0001a0045c0084t0007 | a0002c0001t0002g0117 a0013c0020t0001g0063 a0045c0084t0007g0057 |
3 | 150 | 0.0200 | 18 | c.112 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974890 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03710.hp1 NA18969.hp2 |
a0001a0002 | a0001c0065a0002c0001 | a0001c0065t0002a0002c0001t0002 | a0001c0065t0002g0126 a0002c0001t0002g0120 a0002c0001t0002g0142 |
3 | 150 | 0.0200 | 18 | c.112 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974892 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02293.hp1 |
a0002a0005 | a0002c0001a0005c0022 | a0002c0001t0002a0005c0022t0001 | a0002c0001t0002g0068 a0002c0001t0002g0118 a0005c0022t0001g0116 |
3 | 150 | 0.0200 | 18 | c.112 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974892 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0110 | 1 | 150 | 0.0067 | 18 | c.112 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974892 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0014 | a0014c0070 | a0014c0070t0001 | a0014c0070t0001g0092 | 1 | 150 | 0.0067 | 18 | c.112 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64032566 | T | TTTGTTGT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02083.hp1 HG02280.hp1 others(7): Show |
a0002a0016a0017others(4): Show | a0002c0068a0016c0014a0017c0012others(5): Show | a0002c0068t0002a0016c0014t0001a0017c0012t0001others(5): Show | a0002c0068t0002g0140 a0016c0014t0001g0098 a0016c0014t0001g0099 others(7): Show |
10 | 150 | 0.0667 | 18 | c.722 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64049429 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0039 | a0039c0075 | a0039c0075t0001 | a0039c0075t0001g0130 | 1 | 150 | 0.0067 | 18 | c.737 others(35): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 46/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64226698 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG03471.hp1 others(2): Show |
a0001a0005a0051 | a0001c0004a0005c0022a0051c0052 | a0001c0004t0004a0005c0022t0001a0051c0052t0005 | a0001c0004t0004g0104 a0001c0004t0004g0105 a0001c0004t0004g0127 others(2): Show |
5 | 150 | 0.0333 | 18 | c.*11 others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 266 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95479224 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01257.hp1 HG01433.hp1 others(7): Show |
a0003a0004a0006others(1): Show | a0003c0004a0004c0003a0006c0015others(1): Show | a0003c0004t0005a0003c0004t0121a0003c0004t0126others(5): Show | a0003c0004t0005g0252 a0003c0004t0121g0209 a0003c0004t0126g0338 others(7): Show |
10 | 384 | 0.0260 | 18 | c.-14 others(35): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95499856 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03579.hp1 HG03579.hp2 others(1): Show |
a0001a0014a0033 | a0001c0022a0001c0032a0014c0030others(1): Show | a0001c0022t0129a0001c0032t0213a0014c0030t0176others(1): Show | a0001c0022t0129g0223 a0001c0032t0213g0364 a0014c0030t0176g0076 others(1): Show |
4 | 384 | 0.0104 | 18 | c.-15 others(37): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95513737 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 NA19064.hp1 NA20752.hp1 |
a0004a0005a0012 | a0004c0003a0005c0008a0012c0027 | a0004c0003t0028a0005c0008t0006a0012c0027t0007 | a0004c0003t0028g0349 a0005c0008t0006g0185 a0012c0027t0007g0184 |
3 | 384 | 0.0078 | 18 | c.-15 others(35): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE4_chr19_35998307_36013813 | 35999077 | A | AGCAGGTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02630.hp1 others(6): Show |
a0001a0007 | a0001c0002a0007c0015 | a0001c0002t0001a0007c0015t0001 | a0001c0002t0001g0006 a0001c0002t0001g0009 a0007c0015t0001g0042 |
9 | 376 | 0.0239 | 18 | c.*42 others(29): Show |
SYNE4 | ENSG00000181392.17 | transcript | ENST00000324444.9 | protein_coding | 4229 | chr19 | TogoVar | |||||||
SYNGR1_chr22_39344991_39390575 | 39365988 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 300 | 0.0033 | 18 | c.100 others(35): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0151 | 1 | 420 | 0.0024 | 18 | c.-64 others(27): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02004.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0147 |
3 | 420 | 0.0071 | 18 | c.-64 others(27): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0025 | a0025c0059 | a0025c0059t0026 | a0025c0059t0026g0002 | 1 | 420 | 0.0024 | 18 | c.-64 others(27): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 420 | 0.0048 | 18 | c.-64 others(27): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNPO2L_chr10_73639886_73661029 | 73651892 | A | AGTGAAAC others(11): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0016 | a0016c0013 | a0016c0013t0023 | a0016c0013t0023g0050 | 1 | 382 | 0.0026 | 18 | c.772 others(35): Show |
SYNPO2L | ENSG00000166317.12 | transcript | ENST00000394810.3 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 118890697 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02145.hp1 HG02148.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0003others(3): Show | a0001c0001t0001g0112 a0001c0005t0001g0093 a0002c0003t0003g0173 others(3): Show |
6 | 310 | 0.0194 | 18 | c.105 others(35): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118890733 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 |
a0002a0005 | a0002c0004a0005c0007 | a0002c0004t0007a0005c0007t0010 | a0002c0004t0007g0139 a0005c0007t0010g0005 |
2 | 310 | 0.0065 | 18 | c.105 others(35): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900663 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0018 | a0018c0025 | a0018c0025t0001 | a0018c0025t0001g0263 | 1 | 310 | 0.0032 | 18 | c.105 others(37): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900703 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0246 | 1 | 310 | 0.0032 | 18 | c.105 others(37): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900703 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18522.hp2 |
a0002a0004 | a0002c0003a0004c0009 | a0002c0003t0009a0004c0009t0014 | a0002c0003t0009g0310 a0004c0009t0014g0309 |
2 | 310 | 0.0065 | 18 | c.105 others(37): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900703 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02602.hp1 NA21309.hp2 |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0014 | a0001c0001t0003a0002c0003t0048a0004c0014t0015 | a0001c0001t0003g0225 a0002c0003t0048g0262 a0004c0014t0015g0034 |
3 | 310 | 0.0097 | 18 | c.105 others(37): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119007233 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18980.hp1 NA19085.hp2 |
a0001a0005 | a0001c0005a0005c0008 | a0001c0005t0001a0005c0008t0001 | a0001c0005t0001g0221 a0005c0008t0001g0021 a0005c0008t0001g0226 |
3 | 310 | 0.0097 | 18 | c.106 others(37): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119032853 | C | CAATAATA others(11): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0289 | 1 | 310 | 0.0032 | 18 | c.325 others(35): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO_chr5_150635660_150664207 | 150656742 | A | ACCGCCCC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02300.hp1 | a0013 | a0013c0031 | a0013c0031t0010 | a0013c0031t0010g0002 | 1 | 390 | 0.0026 | 18 | c.238 others(27): Show |
p.Pro others(13): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 3/3 | 2929/5359 | 2402/2712 | 801/903 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SYNPR_chr3_63273308_63621924 | 63314006 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 246 | 0.0041 | 18 | c.84+ others(35): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63388556 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0224 | 1 | 246 | 0.0041 | 18 | c.85- others(35): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408340 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 246 | 0.0041 | 18 | c.85- others(35): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408344 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 246 | 0.0041 | 18 | c.85- others(35): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63455756 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0094 others(2): Show |
5 | 246 | 0.0203 | 18 | c.85- others(35): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63468491 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02559.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0098 a0001c0001t0001g0103 others(9): Show |
12 | 246 | 0.0488 | 18 | c.85- others(35): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63479446 | G | GCGCGCAC others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004 a0001c0001t0004g0229 |
2 | 246 | 0.0081 | 18 | c.85- others(33): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63479446 | G | GCGCGCGC others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02735.hp1 HG03688.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0116 a0001c0001t0001g0161 a0001c0001t0001g0199 others(6): Show |
9 | 246 | 0.0366 | 18 | c.85- others(33): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63510934 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp2 others(33): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0083 others(33): Show |
36 | 246 | 0.1463 | 18 | c.209 others(37): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63595903 | A | ATAGTTAT others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 246 | 0.0041 | 18 | c.409 others(37): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63606417 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0003g0045 others(11): Show |
14 | 246 | 0.0569 | 18 | c.409 others(35): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63613610 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0171 | 1 | 246 | 0.0041 | 18 | c.601 others(35): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNRG_chr17_37509807_37614418 | 37511585 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 NA19240.hp1 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0274 a0001c0005t0005g0279 |
2 | 349 | 0.0057 | 18 | c.*73 others(29): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 3221 | chr17 | TogoVar | |||||||
SYNRG_chr17_37509807_37614418 | 37511937 | A | AGTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0003t0002a0002c0002t0002others(8): Show | a0001c0001t0002g0065 a0001c0003t0002g0149 a0001c0003t0002g0151 others(35): Show |
38 | 349 | 0.1089 | 18 | c.*70 others(29): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 2869 | chr17 | TogoVar |