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 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126
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##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=1,length=249250621>
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency">
##INFO=<ID=BCSQ,Number=.,Type=String,Description="Local consequence annotation from BCFtools/csq, see http://samtools.github.io/bcftools/howtos/csq-calling.html for details. Format: Consequence|gene|transcript|biotype|strand|amino_acid_change|dna_change">
#CHROM POS ID REF ALT QUAL FILTER INFO
1 14464 . A T 2235.88 PASS AF=1;BCSQ=non_coding|WASH7P||unprocessed_pseudogene
1 66053 . G A 65.5 PASS .
1 66055 . C G 576.85 PASS .
1 69270 . A G 64453.2 PASS BCSQ=synonymous|OR4F5|ENST00000335137|protein_coding|+|60S|69270A>G
1 69428 . T G 455238 PASS BCSQ=missense|OR4F5|ENST00000335137|protein_coding|+|113F>113C|69428T>G
1 69438 . T C 28054.4 PASS BCSQ=synonymous|OR4F5|ENST00000335137|protein_coding|+|116Y|69438T>C
1 69453 . G A 49.81 PASS BCSQ=synonymous|OR4F5|ENST00000335137|protein_coding|+|121K|69453G>A
1 69640 . G C 360.75 PASS BCSQ=missense|OR4F5|ENST00000335137|protein_coding|+|184D>184H|69640G>C
1 69678 . T A 231.22 PASS BCSQ=missense|OR4F5|ENST00000335137|protein_coding|+|196S>196R|69678T>A
1 69690 . T A 289.94 PASS BCSQ=synonymous|OR4F5|ENST00000335137|protein_coding|+|200T|69690T>A
1 69696 . T C 37.01 PASS BCSQ=synonymous|OR4F5|ENST00000335137|protein_coding|+|202C|69696T>C
1 69713 . T C 498.13 PASS BCSQ=missense|OR4F5|ENST00000335137|protein_coding|+|208I>208T|69713T>C
1 69719 . C G 7943.31 PASS BCSQ=stop_gained|OR4F5|ENST00000335137|protein_coding|+|210S>210*|69719C>G
1 69761 . A T 180095 PASS BCSQ=missense|OR4F5|ENST00000335137|protein_coding|+|224D>224V|69761A>T
1 69808 . G C 52.73 PASS BCSQ=missense|OR4F5|ENST00000335137|protein_coding|+|240V>240L|69808G>C
1 69816 . G C 158.87 PASS BCSQ=missense|OR4F5|ENST00000335137|protein_coding|+|242L>242F|69816G>C
1 69897 . T C 21493.6 PASS BCSQ=synonymous|OR4F5|ENST00000335137|protein_coding|+|269S|69897T>C
1 120705 . T C 4309.8 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 120745 . C T 2554.27 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 121028 . CTA C 81.23 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 129077 . G A 84.32 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 129122 . A G 121.6 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 129148 . GT GTT,G 343484 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 129285 . G A 6740.47 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 129301 . T C 36.87 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 129315 . A G 1616.86 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA
1 133355 . G T 107.63 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA,non_coding|CICP27||processed_pseudogene
1 133392 . G A 31.55 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA,non_coding|CICP27||processed_pseudogene
1 133477 . G T 40.05 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA,non_coding|CICP27||processed_pseudogene
1 133483 . G T 143466 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA,non_coding|CICP27||processed_pseudogene
1 133558 . C T 1041.19 PASS BCSQ=non_coding|RP11-34P13.7||lincRNA,non_coding|CICP27||processed_pseudogene
1 135147 . G A 1291.73 PASS BCSQ=3_prime_utr|AL627309.1|ENST00000423372|protein_coding
1 135151 . G A 2099.5 PASS BCSQ=3_prime_utr|AL627309.1|ENST00000423372|protein_coding
1 135232 . C T 6306.06 PASS BCSQ=3_prime_utr|AL627309.1|ENST00000423372|protein_coding
1 135265 . T C 98.15 PASS BCSQ=3_prime_utr|AL627309.1|ENST00000423372|protein_coding
1 135297 . C T 292.28 PASS BCSQ=3_prime_utr|AL627309.1|ENST00000423372|protein_coding
1 135982 . A G 3509.37 PASS BCSQ=intron|AL627309.1||protein_coding
1 136041 . C A 72.79 PASS BCSQ=intron|AL627309.1||protein_coding
1 136124 . G A 99.63 PASS BCSQ=intron|AL627309.1||protein_coding
1 136210 . G A 129.71 PASS BCSQ=intron|AL627309.1||protein_coding
1 137622 . G A 240.87 PASS BCSQ=splice_region&3_prime_utr|AL627309.1|ENST00000423372|protein_coding
1 137825 . G A 119793 PASS BCSQ=3_prime_utr|AL627309.1|ENST00000423372|protein_coding
1 267099 . C G 192.81 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267132 . T C 3289.74 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267147 . G A 142.23 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267154 . C T 19978.8 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267216 . C T 187.14 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267220 . A C 213.29 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267226 . C A 66.52 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267227 . TTAA T 101119 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267229 . A *,C 156630 PASS BCSQ=non_coding|AP006222.2||lincRNA
1 267268 . A C 1112.11 PASS .
1 267276 . A G 1380.44 PASS .
1 267282 . T C 690.8 PASS .
1 267289 . T TTA 2809.66 PASS .
1 267295 . A C,* 64218.9 PASS .
1 267300 . T *,TTA 53059.2 PASS .
1 267303 . T *,C 62423.3 PASS .
1 267305 . TATA *,T,CATA 144971 PASS .
1 267309 . ATAT *,TTAT 145363 PASS .
1 267310 . T *,A 63099.9 PASS .
1 267316 . ATATC *,A 77789.8 PASS .
1 267319 . T *,C 77970.5 PASS .
1 267324 . T *,G,C 185470 PASS .
1 267331 . T *,A 98694.5 PASS .
1 267355 . TATA T,* 182207 PASS .
1 267359 . ATAT *,A 146369 PASS .
1 647265 . C T 391.71 PASS BCSQ=non_coding|RP5-857K21.4||lincRNA
1 647380 . T C 1741.48 PASS BCSQ=non_coding|RP5-857K21.4||lincRNA
1 647398 . T C 680.51 PASS BCSQ=non_coding|RP5-857K21.4||lincRNA
1 662029 . G A 14832.6 PASS BCSQ=non_coding|RP11-206L10.1||unprocessed_pseudogene
1 662414 . C T 796.79 PASS BCSQ=non_coding|RP11-206L10.1||unprocessed_pseudogene
1 662531 . G A 382.5 PASS BCSQ=non_coding|RP11-206L10.1||unprocessed_pseudogene
1 722032 . C T 40.43 PASS BCSQ=non_coding|RP11-206L10.9||lincRNA
1 741163 . G A 67.26 PASS BCSQ=non_coding|RP11-206L10.9||lincRNA,non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript
1 741181 . T C 158.83 PASS BCSQ=non_coding|RP11-206L10.9||lincRNA,non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript
1 741235 . G A 13511.6 PASS BCSQ=non_coding|RP11-206L10.9||lincRNA,non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript
1 741260 . A G 191.75 PASS BCSQ=non_coding|RP11-206L10.9||lincRNA,non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript
1 741286 . CAG C 4534.64 PASS BCSQ=non_coding|RP11-206L10.9||lincRNA,non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript
1 745347 . T C 56.66 PASS BCSQ=non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript,non_coding|RP11-206L10.9||lincRNA
1 745370 . TA T 8641.83 PASS BCSQ=non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript,non_coding|RP11-206L10.9||lincRNA
1 745425 . AAATT A 251.88 PASS BCSQ=non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript,non_coding|RP11-206L10.9||lincRNA
1 745439 . G A 34303.8 PASS BCSQ=non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript,non_coding|RP11-206L10.9||lincRNA
1 745477 . C T 17109.4 PASS BCSQ=non_coding|RP11-206L10.8||transcribed_unprocessed_pseudogene,non_coding|RP11-206L10.8||processed_transcript
1 745573 . T G 276.91 PASS BCSQ=non_coding|RP11-206L10.10||processed_transcript
1 745620 . A G 166.67 PASS BCSQ=non_coding|RP11-206L10.10||processed_transcript
1 745642 . AC A 35881.9 PASS BCSQ=non_coding|RP11-206L10.10||processed_transcript
1 753001 . GT G 43.25 PASS BCSQ=non_coding|RP11-206L10.10||processed_transcript,non_coding|FAM87B||lincRNA
1 753016 . T C 40.09 PASS BCSQ=non_coding|RP11-206L10.10||processed_transcript,non_coding|FAM87B||lincRNA
1 753110 . G A 55.21 PASS BCSQ=non_coding|FAM87B||lincRNA
1 808662 . T C 285.9 PASS BCSQ=non_coding|FAM41C||lincRNA
1 808665 . C G 194.95 PASS BCSQ=non_coding|FAM41C||lincRNA
1 808672 . G T 174.78 PASS BCSQ=non_coding|FAM41C||lincRNA,non_coding|TUBB8P11||unprocessed_pseudogene
1 808695 . T C 140.85 PASS BCSQ=non_coding|FAM41C||lincRNA,non_coding|TUBB8P11||unprocessed_pseudogene
1 808708 . A G 182.54 PASS BCSQ=non_coding|FAM41C||lincRNA,non_coding|TUBB8P11||unprocessed_pseudogene
1 808710 . T A 2168.76 PASS BCSQ=non_coding|FAM41C||lincRNA,non_coding|TUBB8P11||unprocessed_pseudogene
1 808714 . C T 184.47 PASS BCSQ=non_coding|FAM41C||lincRNA,non_coding|TUBB8P11||unprocessed_pseudogene
1 808723 . C G 289.66 PASS BCSQ=non_coding|FAM41C||lincRNA,non_coding|TUBB8P11||unprocessed_pseudogene
1 809768 . A C 2167.1 PASS BCSQ=non_coding|FAM41C||lincRNA
1 860416 . G A 616869 PASS BCSQ=intron|SAMD11||protein_coding
1 860417 . G T 38.51 PASS BCSQ=intron|SAMD11||protein_coding
1 860431 . G T 12736.1 PASS BCSQ=intron|SAMD11||protein_coding
1 860461 . G A 822612 PASS BCSQ=intron|SAMD11||protein_coding
1 860498 . C G 61631.5 PASS BCSQ=intron|SAMD11||protein_coding
1 860504 . G A 2021.16 PASS BCSQ=intron|SAMD11||protein_coding
1 860511 . C T 66.9 PASS BCSQ=intron|SAMD11||protein_coding
1 860521 . C A 1.14406e+06 PASS BCSQ=intron|SAMD11||protein_coding
1 860564 . C T 149.61 PASS BCSQ=5_prime_utr|SAMD11|ENST00000437963|protein_coding
1 860604 . G A 37.35 PASS BCSQ=intron|SAMD11||protein_coding
1 860607 . A G 302.91 PASS BCSQ=intron|SAMD11||protein_coding
1 860637 . AG A 176.75 PASS BCSQ=intron|SAMD11||protein_coding
1 860684 . G A 77.88 PASS BCSQ=intron|SAMD11||protein_coding
1 860688 . G A 1.42925e+06 PASS BCSQ=intron|SAMD11||protein_coding
1 861172 . C T 44.68 PASS BCSQ=5_prime_utr|SAMD11|ENST00000342066|protein_coding
1 861177 . C A 271.27 PASS BCSQ=5_prime_utr|SAMD11|ENST00000342066|protein_coding
1 861178 . G A 253.29 PASS BCSQ=splice_region&5_prime_utr|SAMD11|ENST00000342066|protein_coding
1 861196 . G C 167.05 PASS BCSQ=intron|SAMD11||protein_coding
1 861209 . T A 120.43 PASS BCSQ=intron|SAMD11||protein_coding
1 861211 . C T 537.5 PASS BCSQ=intron|SAMD11||protein_coding
1 861213 . C T 69.71 PASS BCSQ=intron|SAMD11||protein_coding
|