1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99
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90 C T 5_prime_utr|XYZ|ENST00000000001|protein_coding
90 C T 5_prime_utr|XYZ|ENST00000000001|protein_coding
102 C T synonymous|XYZ|ENST00000000001|protein_coding|+|1Y|102C>T
102 C T synonymous|XYZ|ENST00000000001|protein_coding|+|1Y|102C>T
103 G A missense|XYZ|ENST00000000001|protein_coding|+|2V>2I|103G>A
103 G A missense|XYZ|ENST00000000001|protein_coding|+|2V>2I|103G>A
103 G C missense|XYZ|ENST00000000001|protein_coding|+|2V>2L|103G>C
103 G C missense|XYZ|ENST00000000001|protein_coding|+|2V>2L|103G>C
107 G A missense|XYZ|ENST00000000001|protein_coding|+|3R>3Q|107G>A+108T>A
107 G A missense|XYZ|ENST00000000001|protein_coding|+|3R>3Q|107G>A+108T>A
108 T A @107,splice_region|XYZ|ENST00000000001|protein_coding
108 T A @107,splice_region|XYZ|ENST00000000001|protein_coding
121 ACG A inframe_deletion|XYZ|ENST00000000001|protein_coding|+|5TY>5I|121ACG>A+124TA>T,splice_region|XYZ|ENST00000000001|protein_coding
121 ACG A inframe_deletion|XYZ|ENST00000000001|protein_coding|+|5TY>5I|121ACG>A+124TA>T,splice_region|XYZ|ENST00000000001|protein_coding
124 TA T @121
124 TA T @121
128 T C missense|XYZ|ENST00000000001|protein_coding|+|7V>6A|128T>C+129A>C,splice_region|XYZ|ENST00000000001|protein_coding
128 T C missense|XYZ|ENST00000000001|protein_coding|+|7V>6A|128T>C+129A>C,splice_region|XYZ|ENST00000000001|protein_coding
129 A C @128,splice_region|XYZ|ENST00000000001|protein_coding
129 A C @128,splice_region|XYZ|ENST00000000001|protein_coding
140 TA AACG inframe_insertion|XYZ|ENST00000000001|protein_coding|+|8LR>7QRR|140TA>AACG+142C>CC,splice_region|XYZ|ENST00000000001|protein_coding
140 TA AACG inframe_insertion|XYZ|ENST00000000001|protein_coding|+|8LR>7QRR|140TA>AACG+142C>CC,splice_region|XYZ|ENST00000000001|protein_coding
142 C CC @140,splice_region|XYZ|ENST00000000001|protein_coding
142 C CC @140,splice_region|XYZ|ENST00000000001|protein_coding
145 AC TA stop_gained|XYZ|ENST00000000001|protein_coding|+|10T>10*|145AC>TA
145 AC TA stop_gained|XYZ|ENST00000000001|protein_coding|+|10T>10*|145AC>TA
160 TA T *frameshift|XYZ|ENST00000000001|protein_coding|+|12YVRT>12SYV|160TA>T,splice_region|XYZ|ENST00000000001|protein_coding
160 TA T *frameshift|XYZ|ENST00000000001|protein_coding|+|12YVRT>12SYV|160TA>T,splice_region|XYZ|ENST00000000001|protein_coding
190 C T 3_prime_utr|XYZ|ENST00000000001|protein_coding
190 C T 3_prime_utr|XYZ|ENST00000000001|protein_coding
97 A C 3_prime_utr|ABC|ENST00000000002|protein_coding
97 A C 3_prime_utr|ABC|ENST00000000002|protein_coding
105 AC A @121
105 AC A @121
121 AC A frameshift|ABC|ENST00000000002|protein_coding|-|11VVRTY>11*|105AC>A+121AC>A,splice_region|ABC|ENST00000000002|protein_coding
121 AC A splice_region|ABC|ENST00000000002|protein_coding,stop_gained&frameshift|ABC|ENST00000000002|protein_coding|-|11VVRTY>11*|105AC>A+121AC>A
126 C CTT @127
126 C CTT @127
127 G GG inframe_insertion|ABC|ENST00000000002|protein_coding|-|9T>8TK|126C>CTT+127G>GG
127 G GG inframe_insertion|ABC|ENST00000000002|protein_coding|-|9T>8TK|126C>CTT+127G>GG
144 TAC T @148
144 TAC T @148
148 TA T inframe_deletion|ABC|ENST00000000002|protein_coding|-|5YV>5T|144TAC>T+148TA>T,splice_region|ABC|ENST00000000002|protein_coding
148 TA T inframe_deletion|ABC|ENST00000000002|protein_coding|-|5YV>5T|144TAC>T+148TA>T,splice_region|ABC|ENST00000000002|protein_coding
164 T G missense|ABC|ENST00000000002|protein_coding|-|3T>3P|164T>G
164 T G missense|ABC|ENST00000000002|protein_coding|-|3T>3P|164T>G
165 A C synonymous|ABC|ENST00000000002|protein_coding|-|2R|165A>C
165 A C synonymous|ABC|ENST00000000002|protein_coding|-|2R|165A>C
169 A G @170
169 A G @170
170 C T missense|ABC|ENST00000000002|protein_coding|-|1V>1T|169A>G+170C>T
170 C T missense|ABC|ENST00000000002|protein_coding|-|1V>1T|169A>G+170C>T
199 G T 5_prime_utr|ABC|ENST00000000002|protein_coding
199 G T 5_prime_utr|ABC|ENST00000000002|protein_coding
20 T A non_coding|mir-007||lincRNA
20 T A non_coding|mir-007||lincRNA
109 ACGTACGT A splice_acceptor|QWRTY|ENST00000000003|protein_coding
109 ACGTACGT A splice_acceptor|QWRTY|ENST00000000003|protein_coding
113 A T splice_region|QWRTY|ENST00000000003|protein_coding
113 A T splice_region|QWRTY|ENST00000000003|protein_coding
120 T A intron|QWRTY||protein_coding
120 T A intron|QWRTY||protein_coding
152 T A splice_region|QWRTY|ENST00000000003|protein_coding
152 T A splice_region|QWRTY|ENST00000000003|protein_coding
159 G A splice_donor|QWRTY|ENST00000000003|protein_coding
159 G A splice_donor|QWRTY|ENST00000000003|protein_coding
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