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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYNE2_chr14_63848004_64231433 | 64014929 | TTATATA | T | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG04204.hp2 others(4): Show |
a0012a0015a0023others(4): Show | a0012c0008a0015c0016a0023c0087others(4): Show | a0012c0008t0002a0015c0016t0001a0023c0087t0003others(4): Show | a0012c0008t0002g0007 a0015c0016t0001g0149 a0023c0087t0003g0077 others(4): Show |
7 | 150 | 0.0467 | -6 | c.472 others(25): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 32/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64014974 | TACACAC | T | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0011 | a0011c0017 | a0011c0017t0002 | a0011c0017t0002g0025 a0011c0017t0002g0088 |
2 | 150 | 0.0133 | -6 | c.472 others(25): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 32/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64086702 | CTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01884.hp1 others(10): Show |
a0008a0014a0016others(6): Show | a0008c0011a0014c0070a0016c0014others(7): Show | a0008c0011t0004a0008c0011t0010a0014c0070t0001others(8): Show | a0008c0011t0004g0029 a0008c0011t0004g0055 a0008c0011t0010g0054 others(10): Show |
13 | 150 | 0.0867 | -6 | c.114 others(25): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 57/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95414686 | GACACAC | G | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02056.hp2 HG02145.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0011a0001c0083others(8): Show | a0001c0001t0153a0001c0011t0024a0001c0011t0169others(9): Show | a0001c0001t0153g0129 a0001c0011t0024g0060 a0001c0011t0024g0350 others(10): Show |
13 | 384 | 0.0339 | -6 | c.*31 others(17): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 18/18 | 3134 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95432633 | CTATTAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(78): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0022a0001c0097others(31): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0106others(67): Show | a0001c0001t0014g0224 a0001c0001t0037g0186 a0001c0001t0106g0029 others(77): Show |
81 | 384 | 0.2109 | -6 | c.268 others(23): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 16/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95479224 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(113): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0011a0001c0018others(41): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(104): Show | a0001c0001t0001g0232 a0001c0001t0004g0021 a0001c0001t0004g0311 others(112): Show |
116 | 384 | 0.3021 | -6 | c.-14 others(23): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95513737 | TTATATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(19): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0011a0001c0018others(16): Show | a0001c0001t0068a0001c0001t0116a0001c0011t0024others(19): Show | a0001c0001t0068g0237 a0001c0001t0116g0242 a0001c0011t0024g0060 others(19): Show |
22 | 384 | 0.0573 | -6 | c.-15 others(23): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95517918 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(68): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0018a0001c0032others(27): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0047others(61): Show | a0001c0001t0001g0232 a0001c0001t0001g0261 a0001c0001t0001g0264 others(67): Show |
71 | 384 | 0.1849 | -6 | c.-13 others(17): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1269 | chr14 | TogoVar | |||||||
SYNGR1_chr22_39344991_39390575 | 39350181 | ACCGACC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(132): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(123): Show |
135 | 300 | 0.4500 | -6 | c.99+ others(17): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SYNGR1_chr22_39344991_39390575 | 39359630 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
148 | 300 | 0.4933 | -6 | c.99+ others(21): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SYNGR2_chr17_78163581_78177720 | 78169256 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 others(20): Show |
138 | 450 | 0.3067 | -6 | c.99+ others(19): Show |
SYNGR2 | ENSG00000108639.8 | transcript | ENST00000225777.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SYNGR3_chr16_1984970_1999275 | 1988390 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00733.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 others(4): Show |
55 | 428 | 0.1285 | -6 | c.-17 others(17): Show |
SYNGR3 | ENSG00000127561.16 | transcript | ENST00000248121.7 | protein_coding | 1579 | chr16 | TogoVar | |||||||
SYNGR4_chr19_48359367_48381377 | 48381070 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01433.hp2 HG02109.hp2 others(4): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0006c0008t0001 | a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0046 others(2): Show |
7 | 430 | 0.0163 | -6 | c.*47 others(17): Show |
SYNGR4 | ENSG00000105467.9 | transcript | ENST00000344846.7 | protein_coding | 4694 | chr19 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32627543 | TTTTTTG | T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02647.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0044 a0003c0003t0003g0149 a0003c0003t0003g0150 others(3): Show |
6 | 346 | 0.0173 | -6 | c.*42 others(17): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 1219 | chr21 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32668007 | ATATGTG | A | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 |
3 | 346 | 0.0087 | -6 | c.181 others(25): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 15/32 | chr21 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32668009 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp2 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0297 a0001c0001t0002g0082 a0001c0001t0003g0154 others(94): Show |
107 | 346 | 0.3093 | -6 | c.181 others(25): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 15/32 | chr21 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32672079 | AAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00558.hp2 others(96): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0014 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(9): Show | a0001c0001t0001g0276 a0001c0001t0013g0025 a0002c0002t0001g0002 others(82): Show |
99 | 346 | 0.2861 | -6 | c.172 others(25): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 14/32 | chr21 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32722201 | AAAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00597.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0189 a0002c0002t0001g0017 a0002c0002t0001g0018 others(38): Show |
45 | 346 | 0.1301 | -6 | c.124 others(23): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32722203 | AAAATAT | A | intron_variant | MODIFIER | HG01358.hp1 HG02015.hp1 HG02040.hp2 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0276 a0001c0001t0004g0193 a0002c0002t0001g0002 others(30): Show |
39 | 346 | 0.1127 | -6 | c.124 others(23): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar | |||||||
SYNJ2BP_chr14_70361499_70422090 | 70368691 | TTTGTTG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(123): Show |
158 | 364 | 0.4341 | -6 | c.*42 others(17): Show |
SYNJ2BP | ENSG00000213463.5 | transcript | ENST00000256366.6 | protein_coding | 4/4 | 4294 | chr14 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 157989427 | AATATAT | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(67): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0006a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(22): Show | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0099 others(67): Show |
70 | 312 | 0.2244 | -6 | c.127 others(23): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 157990329 | CCTTCTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0029a0002c0003others(1): Show | a0001c0001t0002a0001c0029t0001a0002c0003t0006others(1): Show | a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 others(4): Show |
7 | 312 | 0.0224 | -6 | c.127 others(23): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158055503 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0030a0001c0032others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(6): Show | a0001c0001t0001g0237 a0001c0001t0002g0042 a0001c0001t0002g0043 others(13): Show |
16 | 312 | 0.0513 | -6 | c.857 others(21): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158077650 | TAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01069.hp2 others(30): Show |
a0001a0002a0005others(1): Show | a0001c0006a0002c0003a0002c0004others(4): Show | a0001c0006t0002a0001c0006t0013a0002c0003t0004others(10): Show | a0001c0006t0002g0185 a0001c0006t0013g0159 a0002c0003t0004g0038 others(30): Show |
33 | 312 | 0.1058 | -6 | c.245 others(23): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158088033 | AATTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02559.hp2 others(6): Show |
a0002a0004a0013 | a0002c0003a0002c0004a0002c0005others(2): Show | a0002c0003t0006a0002c0004t0005a0002c0004t0007others(3): Show | a0002c0003t0006g0064 a0002c0003t0006g0168 a0002c0003t0006g0222 others(6): Show |
9 | 312 | 0.0289 | -6 | c.334 others(23): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 23/26 | chr6 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 158088034 | ATTTTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG01099.hp1 others(20): Show |
a0001a0002a0004 | a0001c0006a0002c0003a0002c0013others(4): Show | a0001c0006t0002a0001c0006t0010a0002c0003t0004others(8): Show | a0001c0006t0002g0185 a0001c0006t0010g0014 a0001c0006t0010g0103 others(20): Show |
23 | 312 | 0.0737 | -6 | c.334 others(23): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99103634 | TATACTG | T | upstream_gene_variant | MODIFIER | HG01169.hp2 HG01952.hp1 NA18945.hp1 others(15): Show |
a0001a0002a0048others(1): Show | a0001c0001a0002c0002a0048c0076others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0044 a0001c0001t0001g0178 a0002c0002t0001g0006 others(6): Show |
18 | 420 | 0.0429 | -6 | c.-15 others(17): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 1445 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104161 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01123.hp1 others(18): Show |
a0001a0003a0004others(4): Show | a0001c0007a0003c0003a0004c0004others(4): Show | a0001c0007t0001a0003c0003t0001a0003c0003t0003others(6): Show | a0001c0007t0001g0094 a0003c0003t0001g0101 a0003c0003t0003g0003 others(15): Show |
21 | 420 | 0.0500 | -6 | c.-10 others(17): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 918 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99107957 | TTTTTGG | T | intron_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG02258.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0044a0002c0005a0002c0050others(4): Show | a0001c0044t0001a0002c0005t0008a0002c0050t0002others(5): Show | a0001c0044t0001g0195 a0002c0005t0008g0012 a0002c0005t0008g0031 others(8): Show |
15 | 420 | 0.0357 | -6 | c.810 others(23): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SYNPO2L_chr10_73639886_73661029 | 73646178 | GCACACA | G | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG02451.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0009a0002c0014others(3): Show | a0001c0001t0026a0002c0009t0010a0002c0014t0010others(4): Show | a0001c0001t0026g0130 a0002c0009t0010g0049 a0002c0009t0010g0056 others(8): Show |
11 | 382 | 0.0288 | -6 | c.*53 others(15): Show |
SYNPO2L | ENSG00000166317.12 | transcript | ENST00000394810.3 | protein_coding | 4/4 | 534 | chr10 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118913563 | TTGTGTG | T | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0002 | a0001c0001t0003a0001c0001t0013a0001c0005t0001others(3): Show | a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0013g0179 others(4): Show |
7 | 310 | 0.0226 | -6 | c.105 others(25): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118931295 | GATGAGA | G | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02451.hp1 others(11): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0003others(8): Show | a0001c0001t0012a0001c0005t0001a0001c0005t0053others(11): Show | a0001c0001t0012g0249 a0001c0005t0001g0142 a0001c0005t0053g0002 others(11): Show |
14 | 310 | 0.0452 | -6 | c.105 others(25): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118964297 | AACACAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0004others(6): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0004others(9): Show | a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0078 others(16): Show |
19 | 310 | 0.0613 | -6 | c.106 others(25): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118978792 | GACACAC | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(107): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0017others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 others(107): Show |
110 | 310 | 0.3548 | -6 | c.106 others(25): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118998880 | CTGTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG02257.hp2 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0012a0001c0005t0008a0002c0003t0007others(1): Show | a0001c0001t0012g0155 a0001c0005t0008g0223 a0002c0003t0007g0094 others(1): Show |
4 | 310 | 0.0129 | -6 | c.106 others(25): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119007270 | ATATATG | A | intron_variant | MODIFIER | HG02015.hp2 HG02027.hp2 NA18948.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0022a0002c0004t0001 | a0002c0003t0022g0140 a0002c0004t0001g0076 a0002c0004t0001g0082 |
3 | 310 | 0.0097 | -6 | c.106 others(25): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO_chr5_150635660_150664207 | 150654352 | GCACACA | G | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG01891.hp2 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0024a0001c0026others(3): Show | a0001c0002t0049a0001c0024t0056a0001c0026t0021others(4): Show | a0001c0002t0049g0057 a0001c0024t0056g0063 a0001c0026t0021g0129 others(6): Show |
10 | 390 | 0.0256 | -6 | c.202 others(25): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SYNPO_chr5_150635660_150664207 | 150656742 | ACCGCCC | A | disruptive_inframe_deletion | MODERATE | HG01069.hp1 HG01071.hp2 HG01496.hp1 others(4): Show |
a0005a0012 | a0005c0007a0012c0034 | a0005c0007t0007a0005c0007t0060a0012c0034t0021 | a0005c0007t0007g0015 a0005c0007t0007g0054 a0005c0007t0060g0015 others(1): Show |
7 | 390 | 0.0180 | -6 | c.239 others(15): Show |
p.Pro others(13): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 3/3 | 2923/5359 | 2396/2712 | 799/903 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SYNPO_chr5_150635660_150664207 | 150657428 | TCTCTCA | T | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG02165.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0012a0001c0006t0012 | a0001c0001t0012g0004 a0001c0001t0012g0016 a0001c0001t0012g0030 others(2): Show |
9 | 390 | 0.0231 | -6 | c.*34 others(15): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 3/3 | 343 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SYNPO_chr5_150635660_150664207 | 150657432 | TCACACA | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01069.hp1 others(77): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0026a0002c0004others(9): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(17): Show | a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0004g0008 others(44): Show |
80 | 390 | 0.2051 | -6 | c.*38 others(15): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 3/3 | 385 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63298452 | ACCAGCG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(121): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 others(121): Show |
124 | 246 | 0.5041 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63313912 | CATATAT | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 a0001c0001t0002g0209 a0001c0001t0002g0210 |
3 | 246 | 0.0122 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63313928 | CATATAT | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 a0001c0001t0002g0209 a0001c0001t0002g0210 |
3 | 246 | 0.0122 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63313974 | CATATAT | C | intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0090 a0001c0001t0001g0163 a0001c0001t0001g0199 others(1): Show |
4 | 246 | 0.0163 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63313990 | CATATAT | C | intron_variant | MODIFIER | HG00735.hp2 HG03225.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0163 a0001c0001t0003g0088 a0001c0001t0004g0245 |
3 | 246 | 0.0122 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63314020 | CATATAT | C | intron_variant | MODIFIER | HG02818.hp1 HG02818.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0094 a0001c0001t0002g0178 a0001c0001t0003g0093 others(2): Show |
5 | 246 | 0.0203 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63319525 | CTAATAT | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(10): Show |
13 | 246 | 0.0529 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63336519 | CAAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG02109.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0003g0037 a0001c0001t0004g0225 a0001c0001t0004g0227 others(4): Show |
7 | 246 | 0.0285 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63347875 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01255.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0042 others(13): Show |
16 | 246 | 0.0650 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63350213 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp2 others(35): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0145 others(35): Show |
38 | 246 | 0.1545 | -6 | c.84+ others(23): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |