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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXD2_chr14_69186498_69249018 | 69213537 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0003t0001others(4): Show | a0001c0001t0002g0042 a0001c0001t0002g0063 a0001c0001t0002g0064 others(54): Show |
61 | 88 | 0.6932 | 7 | c.333 others(24): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137343575 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG02280.hp1 HG02647.hp1 others(10): Show |
a0001a0002a0006others(6): Show | a0001c0001a0002c0002a0006c0005others(6): Show | a0001c0001t0001a0002c0002t0001a0006c0005t0001others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0042 others(10): Show |
13 | 17 | 0.7647 | 7 | c.199 others(26): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137407825 | C | CGCGGGAG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01069.hp2 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(23): Show |
26 | 80 | 0.3250 | 7 | c.-47 others(26): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 1/21 | chr9 | TogoVar | |||||||
EXO1_chr1_241843204_241894939 | 241885832 | A | ATTTTGTT | intron_variant | MODIFIER | HG00621.hp1 HG02738.hp2 NA18940.hp2 others(10): Show |
a0008 | a0008c0008 | a0008c0008t0004 | a0008c0008t0004g0028 a0008c0008t0004g0094 a0008c0008t0004g0095 others(9): Show |
13 | 414 | 0.0314 | 7 | c.240 others(24): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EXO1_chr1_241843204_241894939 | 241885836 | G | GGTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG02083.hp2 others(19): Show |
a0008a0013a0018others(5): Show | a0008c0008a0013c0034a0018c0019others(5): Show | a0008c0008t0004a0013c0034t0004a0018c0019t0004others(5): Show | a0008c0008t0004g0007 a0008c0008t0004g0117 a0008c0008t0004g0126 others(17): Show |
22 | 233 | 0.0944 | 7 | c.240 others(24): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EXOC1_chr4_55848648_55910086 | 55909185 | A | ATATATGG | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(111): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0002others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(84): Show |
114 | 320 | 0.3563 | 7 | c.*46 others(18): Show |
EXOC1 | ENSG00000090989.18 | transcript | ENST00000381295.7 | protein_coding | 4100 | chr4 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501157 | C | CTATATAT | intron_variant | MODIFIER | HG02970.hp2 HG03704.hp2 HG04184.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0003t0003a0001c0003t0009others(2): Show | a0001c0001t0005g0258 a0001c0003t0003g0012 a0001c0003t0003g0182 others(3): Show |
6 | 238 | 0.0252 | 7 | c.238 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501371 | A | ATATATAT | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01517.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0177 a0001c0001t0001g0181 others(12): Show |
15 | 264 | 0.0568 | 7 | c.238 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 523401 | C | CTGCTATT | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0003a0001c0001t0011a0001c0021t0003 | a0001c0001t0003g0117 a0001c0001t0011g0268 a0001c0021t0003g0180 |
3 | 270 | 0.0111 | 7 | c.238 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 658666 | T | TATATATA | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01884.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0009 | a0001c0001t0002a0001c0001t0011a0001c0008t0013others(1): Show | a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 others(4): Show |
7 | 202 | 0.0347 | 7 | c.-43 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC3L4_chr14_103089725_103115559 | 103096398 | A | ATTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0013a0014a0019 | a0013c0026a0014c0027a0019c0028 | a0013c0026t0001a0014c0027t0001a0019c0028t0001 | a0013c0026t0001g0273 a0014c0027t0001g0044 a0019c0028t0001g0272 others(1): Show |
5 | 396 | 0.0126 | 7 | c.-17 others(24): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103096401 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01515.hp2 HG01517.hp2 others(13): Show |
a0001a0003a0004others(1): Show | a0001c0005a0003c0007a0003c0011others(4): Show | a0001c0005t0001a0003c0007t0001a0003c0011t0001others(4): Show | a0001c0005t0001g0005 a0001c0005t0001g0049 a0001c0005t0001g0050 others(9): Show |
16 | 171 | 0.0936 | 7 | c.-17 others(24): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103103354 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(71): Show |
a0001a0003a0004others(6): Show | a0001c0003a0001c0020a0003c0006others(12): Show | a0001c0003t0001a0001c0003t0002a0001c0020t0002others(16): Show | a0001c0003t0001g0018 a0001c0003t0002g0003 a0001c0003t0002g0017 others(61): Show |
74 | 228 | 0.3246 | 7 | c.105 others(24): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC3_chr5_438176_472290 | 441497 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02630.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0115 others(3): Show |
8 | 34 | 0.2353 | 7 | c.-18 others(18): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133594493 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0002a0001c0005t0007others(1): Show | a0001c0001t0003g0070 a0001c0002t0002g0071 a0001c0005t0007g0025 others(1): Show |
4 | 44 | 0.0909 | 7 | c.141 others(28): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133650937 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01071.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0077 a0001c0001t0003g0032 others(2): Show |
5 | 30 | 0.1667 | 7 | c.151 others(28): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 134069308 | C | CTCCTCCT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0031 others(75): Show |
78 | 91 | 0.8571 | 7 | c.*47 others(18): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 3548 | chr7 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72189860 | C | CTTCTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 others(2): Show |
5 | 32 | 0.1563 | 7 | c.219 others(26): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72368447 | T | TGGTACCA | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0009a0001c0002t0011others(2): Show | a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 others(6): Show |
9 | 102 | 0.0882 | 7 | c.212 others(28): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 19/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72397660 | T | TAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01981.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0011 a0001c0001t0002g0060 a0001c0001t0003g0028 others(8): Show |
11 | 69 | 0.1594 | 7 | c.198 others(28): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
EXOC6_chr10_92843520_93064490 | 93041227 | G | GCCTACCA | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00738.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0251 a0001c0001t0003g0217 a0001c0001t0004g0009 others(33): Show |
36 | 286 | 0.1259 | 7 | c.217 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 93050759 | C | CAAAAAAA | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0106 a0001c0001t0002g0237 a0001c0001t0007g0079 others(3): Show |
6 | 8 | 0.7500 | 7 | c.217 others(26): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532367 | T | TATATATA | intron_variant | MODIFIER | HG02055.hp2 HG02132.hp1 HG02922.hp2 others(6): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0005others(4): Show | a0001c0001t0002a0002c0002t0003a0005c0005t0003others(5): Show | a0001c0001t0002g0166 a0002c0002t0003g0081 a0005c0005t0003g0248 others(6): Show |
9 | 250 | 0.0360 | 7 | c.444 others(24): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858791 | A | AGGCAGGC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00639.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0004g0072 a0001c0001t0006g0027 a0001c0001t0009g0032 others(8): Show |
11 | 147 | 0.0748 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858805 | C | CAGGAAGG | intron_variant | MODIFIER | HG01884.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0024 | a0001c0001t0009g0032 a0001c0001t0024g0178 |
2 | 151 | 0.0132 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117867260 | G | GAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0014a0001c0001t0018a0001c0001t0019others(4): Show | a0001c0001t0014g0007 a0001c0001t0014g0009 a0001c0001t0018g0078 others(6): Show |
9 | 90 | 0.1000 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0061 a0001c0001t0001g0121 a0001c0001t0001g0140 others(22): Show |
25 | 93 | 0.2688 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117897591 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01071.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0022 a0001c0001t0003g0064 a0001c0001t0003g0089 others(28): Show |
31 | 58 | 0.5345 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117986190 | T | TTCTTTTC | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0067 others(75): Show |
79 | 189 | 0.4180 | 7 | c.962 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118086549 | G | GTGACTGC | intron_variant | MODIFIER | HG03139.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0035 | a0001c0001t0009g0083 a0001c0001t0035g0017 |
2 | 190 | 0.0105 | 7 | c.962 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118090778 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG01943.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0003g0030 others(10): Show |
13 | 34 | 0.3824 | 7 | c.962 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44147775 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02257.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005 | a0001c0001t0003a0001c0001t0018a0001c0001t0027others(5): Show | a0001c0001t0003g0231 a0001c0001t0018g0312 a0001c0001t0018g0313 others(12): Show |
15 | 28 | 0.5357 | 7 | c.117 others(28): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46934356 | T | TCCTCGTC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01069.hp1 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0104 others(50): Show |
53 | 236 | 0.2246 | 7 | c.-11 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46957857 | G | GATGTTCT | intron_variant | MODIFIER | HG02897.hp1 HG03225.hp1 |
a0001a0004 | a0001c0003a0004c0011 | a0001c0003t0001a0004c0011t0001 | a0001c0003t0001g0016 a0004c0011t0001g0099 |
2 | 236 | 0.0085 | 7 | c.-10 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47130261 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00735.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0087 others(66): Show |
69 | 127 | 0.5433 | 7 | c.889 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47135818 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp2 HG02129.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0224 a0001c0001t0003g0041 a0001c0001t0003g0077 others(7): Show |
10 | 175 | 0.0571 | 7 | c.889 others(24): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47148021 | T | TGCAGTCC | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01069.hp1 others(35): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0148 others(35): Show |
38 | 236 | 0.1610 | 7 | c.978 others(24): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47148058 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01069.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0055 others(24): Show |
27 | 222 | 0.1216 | 7 | c.978 others(24): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47154860 | T | TGTGTGTG | intron_variant | MODIFIER | NA18979.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0113 a0001c0003t0003g0118 |
2 | 236 | 0.0085 | 7 | c.978 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | chr20 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133243539 | A | AAGTTGAC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(82): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 others(82): Show |
85 | 262 | 0.3244 | 7 | c.-66 others(24): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133428911 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01952.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0215 a0001c0001t0002g0028 a0001c0001t0004g0049 others(5): Show |
8 | 35 | 0.2286 | 7 | c.84- others(24): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63827866 | A | ATAAAAAT | intron_variant | MODIFIER | HG01169.hp2 HG02451.hp1 HG02622.hp1 others(3): Show |
a0001a0005a0007others(2): Show | a0001c0002a0001c0019a0005c0011others(3): Show | a0001c0002t0002a0001c0019t0001a0005c0011t0002others(3): Show | a0001c0002t0002g0019 a0001c0019t0001g0006 a0005c0011t0002g0018 others(3): Show |
6 | 24 | 0.2500 | 7 | c.722 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 36/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64112781 | T | TATATATC | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02886.hp1 others(4): Show |
a0007a0009a0010others(4): Show | a0007c0006a0009c0013a0010c0015others(4): Show | a0007c0006t0001a0009c0013t0001a0010c0015t0002others(4): Show | a0007c0006t0001g0004 a0009c0013t0001g0017 a0010c0015t0002g0023 others(4): Show |
7 | 24 | 0.2917 | 7 | c.642 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64529595 | T | TTAAATGA | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp1 others(3): Show |
a0003a0006a0012others(2): Show | a0003c0008a0003c0021a0006c0017others(3): Show | a0003c0008t0002a0003c0021t0001a0006c0017t0001others(3): Show | a0003c0008t0002g0020 a0003c0021t0001g0008 a0006c0017t0001g0002 others(3): Show |
6 | 24 | 0.2500 | 7 | c.564 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65113711 | T | TTCCCTAC | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02809.hp2 others(6): Show |
a0005a0007a0009others(6): Show | a0005c0011a0007c0006a0009c0013others(6): Show | a0005c0011t0002a0007c0006t0001a0009c0013t0001others(6): Show | a0005c0011t0002g0018 a0007c0006t0001g0004 a0009c0013t0001g0017 others(6): Show |
9 | 24 | 0.3750 | 7 | c.202 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65119630 | C | CTTTTTTT | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp2 HG03209.hp2 |
a0012a0017a0021 | a0012c0016a0017c0014a0021c0007 | a0012c0016t0001a0017c0014t0001a0021c0007t0001 | a0012c0016t0001g0003 a0017c0014t0001g0005 a0021c0007t0001g0009 |
3 | 12 | 0.2500 | 7 | c.202 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65185993 | A | AAATAAGT | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02630.hp1 others(9): Show |
a0001a0003a0004others(9): Show | a0001c0019a0003c0008a0004c0024others(9): Show | a0001c0019t0001a0003c0008t0002a0004c0024t0001others(9): Show | a0001c0019t0001g0006 a0003c0008t0002g0020 a0004c0024t0001g0001 others(9): Show |
12 | 24 | 0.5000 | 7 | c.202 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65365524 | C | CTCTTTTA | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02451.hp1 others(12): Show |
a0001a0002a0004others(12): Show | a0001c0019a0002c0012a0004c0024others(12): Show | a0001c0019t0001a0002c0012t0002a0004c0024t0001others(12): Show | a0001c0019t0001g0006 a0002c0012t0002g0021 a0004c0024t0001g0001 others(12): Show |
15 | 24 | 0.6250 | 7 | c.130 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 8/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65648013 | T | TAAAATAA | intron_variant | MODIFIER | HG01169.hp1 HG02451.hp1 HG02451.hp2 others(16): Show |
a0001a0002a0003others(15): Show | a0001c0002a0002c0009a0002c0012others(16): Show | a0001c0002t0002a0002c0009t0001a0002c0012t0002others(16): Show | a0001c0002t0002g0019 a0002c0009t0001g0012 a0002c0012t0002g0021 others(16): Show |
19 | 24 | 0.7917 | 7 | c.-44 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 1/42 | chr6 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148863096 | A | AAAGAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(3): Show | a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 others(77): Show |
80 | 375 | 0.2133 | 7 | c.-7- others(24): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar |