##fileformat=VCFv4.1
##samtoolsVersion=0.1.18 (r982:295)
##ALT=<ID=DUP:TANDEM,Description="Tandem Duplication">
##INFO=<ID=MANUAL_COMMENT,Number=1,Type=String,Description="Comment from manual review">
##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation">
##INFO=<ID=EVENT_SEQ,Number=1,Type=String,Description="The event sequence">
##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##INFO=<ID=EFF,Number=.,Type=String,Description="Predicted effects for this variant.Format: 'Effect ( Effect_Impact | Functional_Class | Codon_Change | Amino_Acid_change | Gene_Name | Gene_BioType | Coding | Transcript | Exon [ | ERRORS | WARNINGS ] )' ">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	37-65
2	111883262	.	G	A	.	.	INTRAGENIC(MODIFIER||||MIR4435-1|Non-coding_transcript|NON_CODING||),INTRAGENIC(MODIFIER||||MIR4435-2|Non-coding_transcript|NON_CODING||),INTRAGENIC(MODIFIER||||RGPD5|mRNA|CODING||),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_001204106|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_001204107|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_001204108|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_001204109|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_001204110|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_001204111|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_001204112|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_001204113|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_006538|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_138621|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_138622|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_138623|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_138624|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_138625|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_138626|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_138627|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_207002|),INTRON(MODIFIER||||BCL2L11|mRNA|CODING|NM_207003|)	.	.
2	198257795	.	T	C	.	.	SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V1219|SF3B1|mRNA|CODING|NM_012433|NM_012433.ex.2)	.	.
2	198262708	.	C	G	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_DONOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198264974	.	A	T	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_DONOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198265173	.	T	A	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198265526	.	A	G	.	.	SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G877|SF3B1|mRNA|CODING|NM_012433|NM_012433.ex.8)	.	.
2	198266123	.	C	A	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_DONOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198267770	.	GAAAA	GAAAAAA	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198268308	.	C	T	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_DONOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198269903	.	T	A	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_ACCEPTOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198270199	.	A	T	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198274493	.	C	T	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_DONOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198281636	.	C	T	.	.	DOWNSTREAM(MODIFIER||||SF3B1|mRNA|CODING|NM_001005526|),INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_ACCEPTOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198281638	.	G	C	.	.	DOWNSTREAM(MODIFIER||||SF3B1|mRNA|CODING|NM_001005526|),INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198281639	.	A	T	.	.	DOWNSTREAM(MODIFIER||||SF3B1|mRNA|CODING|NM_001005526|),INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198283232	.	C	G	.	.	DOWNSTREAM(MODIFIER||||SF3B1|mRNA|CODING|NM_001005526|),INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_DONOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198283305	.	T	C	.	.	DOWNSTREAM(MODIFIER||||SF3B1|mRNA|CODING|NM_001005526|),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K141|SF3B1|mRNA|CODING|NM_012433|NM_012433.ex.21)	.	.
2	198285752	.	C	A	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_001005526|),INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_DONOR(HIGH||||SF3B1|mRNA|CODING|NM_001005526|),SPLICE_SITE_DONOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
2	198285858	.	C	A	.	.	INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_001005526|),INTRON(MODIFIER||||SF3B1|mRNA|CODING|NM_012433|),SPLICE_SITE_ACCEPTOR(HIGH||||SF3B1|mRNA|CODING|NM_001005526|),SPLICE_SITE_ACCEPTOR(HIGH||||SF3B1|mRNA|CODING|NM_012433|)	.	.
4	55599268	.	C	T	.	.	SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I794|KIT|mRNA|CODING|NM_001093772|NM_001093772.ex.17),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I798|KIT|mRNA|CODING|NM_000222|NM_000222.ex.17)	.	.
4	106162588	.	TAA	TA	.	.	INTRON(MODIFIER||||TET2|mRNA|CODING|NM_001127208|),UTR_3_PRIME(MODIFIER||||TET2|mRNA|CODING|NM_017628|)	.	.
4	106196829	.	T	G	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L1721W|TET2|mRNA|CODING|NM_001127208|NM_001127208.ex.11)	.	.
7	148504716	.	AGGGGGG	AGGGGG	.	.	UTR_3_PRIME(MODIFIER||||EZH2|mRNA|CODING|NM_001203247|),UTR_3_PRIME(MODIFIER||||EZH2|mRNA|CODING|NM_001203248|),UTR_3_PRIME(MODIFIER||||EZH2|mRNA|CODING|NM_001203249|),UTR_3_PRIME(MODIFIER||||EZH2|mRNA|CODING|NM_004456|),UTR_3_PRIME(MODIFIER||||EZH2|mRNA|CODING|NM_152998|)	.	.
7	148523545	.	C	G	.	.	INTRON(MODIFIER||||EZH2|mRNA|CODING|NM_001203247|),INTRON(MODIFIER||||EZH2|mRNA|CODING|NM_001203248|),INTRON(MODIFIER||||EZH2|mRNA|CODING|NM_001203249|),INTRON(MODIFIER||||EZH2|mRNA|CODING|NM_004456|),INTRON(MODIFIER||||EZH2|mRNA|CODING|NM_152998|),SPLICE_SITE_DONOR(HIGH||||EZH2|mRNA|CODING|NM_004456|)	.	.
10	89685315	.	G	T	.	.	INTRON(MODIFIER||||PTEN|mRNA|CODING|NM_000314|),SPLICE_SITE_DONOR(HIGH||||PTEN|mRNA|CODING|NM_000314|)	.	.
11	64536604	.	A	G	.	.	INTRON(MODIFIER||||SF1|mRNA|CODING|NM_001178030|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_001178031|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_004630|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201995|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201997|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201998|),INTRON(MODIFIER||||SF1|mRNA|CODING|NR_033649|),INTRON(MODIFIER||||SF1|mRNA|CODING|NR_033650|)	.	.
11	64536897	.	C	T	.	.	INTRON(MODIFIER||||SF1|mRNA|CODING|NM_001178030|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_001178031|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_004630|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201995|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201997|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201998|),INTRON(MODIFIER||||SF1|mRNA|CODING|NR_033649|),INTRON(MODIFIER||||SF1|mRNA|CODING|NR_033650|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_001178030|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_001178031|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_004630|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_201995|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_201997|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_201998|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NR_033649|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NR_033650|)	.	.
11	64537727	.	C	T	.	.	INTRON(MODIFIER||||SF1|mRNA|CODING|NM_001178030|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_001178031|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_004630|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201995|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201997|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201998|),INTRON(MODIFIER||||SF1|mRNA|CODING|NR_033649|),INTRON(MODIFIER||||SF1|mRNA|CODING|NR_033650|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_001178030|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_001178031|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_004630|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_201995|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_201997|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NM_201998|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NR_033649|),SPLICE_SITE_DONOR(HIGH||||SF1|mRNA|CODING|NR_033650|)	.	.
11	64544100	.	T	C	.	.	INTRON(MODIFIER||||SF1|mRNA|CODING|NM_001178030|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_001178031|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_004630|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201995|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201997|),INTRON(MODIFIER||||SF1|mRNA|CODING|NM_201998|),INTRON(MODIFIER||||SF1|mRNA|CODING|NR_033649|),INTRON(MODIFIER||||SF1|mRNA|CODING|NR_033650|),SPLICE_SITE_ACCEPTOR(HIGH||||SF1|mRNA|CODING|NM_001178030|),SPLICE_SITE_ACCEPTOR(HIGH||||SF1|mRNA|CODING|NM_001178031|),SPLICE_SITE_ACCEPTOR(HIGH||||SF1|mRNA|CODING|NM_004630|),SPLICE_SITE_ACCEPTOR(HIGH||||SF1|mRNA|CODING|NM_201995|),SPLICE_SITE_ACCEPTOR(HIGH||||SF1|mRNA|CODING|NM_201997|),SPLICE_SITE_ACCEPTOR(HIGH||||SF1|mRNA|CODING|NM_201998|),SPLICE_SITE_ACCEPTOR(HIGH||||SF1|mRNA|CODING|NR_033649|),SPLICE_SITE_ACCEPTOR(HIGH||||SF1|mRNA|CODING|NR_033650|)	.	.
11	118339489	.	G	T	.	.	INTRON(MODIFIER||||MLL|mRNA|CODING|NM_001197104|),INTRON(MODIFIER||||MLL|mRNA|CODING|NM_005933|),SPLICE_SITE_ACCEPTOR(HIGH||||MLL|mRNA|CODING|NM_001197104|),SPLICE_SITE_ACCEPTOR(HIGH||||MLL|mRNA|CODING|NM_005933|)	.	.
11	118350888	.	G	A	.	.	INTRON(MODIFIER||||MLL|mRNA|CODING|NM_001197104|),INTRON(MODIFIER||||MLL|mRNA|CODING|NM_005933|),SPLICE_SITE_ACCEPTOR(HIGH||||MLL|mRNA|CODING|NM_001197104|),SPLICE_SITE_ACCEPTOR(HIGH||||MLL|mRNA|CODING|NM_005933|)	.	.
11	118350954	.	G	C	.	.	INTRON(MODIFIER||||MLL|mRNA|CODING|NM_001197104|),INTRON(MODIFIER||||MLL|mRNA|CODING|NM_005933|),SPLICE_SITE_DONOR(HIGH||||MLL|mRNA|CODING|NM_001197104|),SPLICE_SITE_DONOR(HIGH||||MLL|mRNA|CODING|NM_005933|)	.	.
11	118366414	.	G	A	.	.	INTRON(MODIFIER||||MLL|mRNA|CODING|NM_001197104|),INTRON(MODIFIER||||MLL|mRNA|CODING|NM_005933|),SPLICE_SITE_ACCEPTOR(HIGH||||MLL|mRNA|CODING|NM_001197104|),SPLICE_SITE_ACCEPTOR(HIGH||||MLL|mRNA|CODING|NM_005933|)	.	.
11	118379916	.	G	A	.	.	INTRON(MODIFIER||||MLL|mRNA|CODING|NM_001197104|),INTRON(MODIFIER||||MLL|mRNA|CODING|NM_005933|),SPLICE_SITE_DONOR(HIGH||||MLL|mRNA|CODING|NM_001197104|),SPLICE_SITE_DONOR(HIGH||||MLL|mRNA|CODING|NM_005933|)	.	.
11	119144577	.	G	A	.	.	INTRON(MODIFIER||||CBL|mRNA|CODING|NM_005188|),SPLICE_SITE_ACCEPTOR(HIGH||||CBL|mRNA|CODING|NM_005188|)	.	.
12	12044003	.	C	T	.	.	INTRAGENIC(MODIFIER||||MIR1244-1|Non-coding_transcript|NON_CODING||),INTRAGENIC(MODIFIER||||MIR1244-2|Non-coding_transcript|NON_CODING||),INTRAGENIC(MODIFIER||||MIR1244-3|Non-coding_transcript|NON_CODING||),INTRON(MODIFIER||||RNU6-19|Non-coding_transcript|NON_CODING|NR_046487|),UTR_3_PRIME(MODIFIER||||ETV6|mRNA|CODING|NM_001987|)	.	.
12	50024409	.	G	A	.	.	INTRON(MODIFIER||||PRPF40B|mRNA|CODING|NM_001031698|),INTRON(MODIFIER||||PRPF40B|mRNA|CODING|NM_012272|),SPLICE_SITE_DONOR(HIGH||||PRPF40B|mRNA|CODING|NM_001031698|)	.	.
12	111856506	.	G	T	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aTc|S186I|SH2B3|mRNA|CODING|NM_005475|NM_005475.ex.2)	.	.
12	111872828	.	G	C	.	.	INTRON(MODIFIER||||SH2B3|mRNA|CODING|NM_005475|)	.	.
12	111884608	.	T	C	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W262R|SH2B3|mRNA|CODING|NM_005475|NM_005475.ex.3)	.	.
17	7578115	.	T	C	.	.	INTRON(MODIFIER||||TP53|mRNA|CODING|NM_000546|),INTRON(MODIFIER||||TP53|mRNA|CODING|NM_001126112|),INTRON(MODIFIER||||TP53|mRNA|CODING|NM_001126113|),INTRON(MODIFIER||||TP53|mRNA|CODING|NM_001126114|),INTRON(MODIFIER||||TP53|mRNA|CODING|NM_001126115|),INTRON(MODIFIER||||TP53|mRNA|CODING|NM_001126116|),INTRON(MODIFIER||||TP53|mRNA|CODING|NM_001126117|),INTRON(MODIFIER||||TP53|mRNA|CODING|NM_001126118|)	.	.
17	7579472	.	G	C	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P33R|TP53|mRNA|CODING|NM_001126118|NM_001126118.ex.8),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P72R|TP53|mRNA|CODING|NM_000546|NM_000546.ex.8),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P72R|TP53|mRNA|CODING|NM_001126112|NM_001126112.ex.8),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P72R|TP53|mRNA|CODING|NM_001126113|NM_001126113.ex.9),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P72R|TP53|mRNA|CODING|NM_001126114|NM_001126114.ex.9),UPSTREAM(MODIFIER||||TP53|mRNA|CODING|NM_001126115|),UPSTREAM(MODIFIER||||TP53|mRNA|CODING|NM_001126116|),UPSTREAM(MODIFIER||||TP53|mRNA|CODING|NM_001126117|)	.	.
17	74732507	.	A	G	.	.	DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001080510|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206983|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206984|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206985|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206986|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206987|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NR_038193|),DOWNSTREAM(MODIFIER||||MIR636|Non-coding_transcript|NON_CODING|NR_030366|),EXON(MODIFIER||||SRSF2|mRNA|CODING|NR_036608|),SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S134|SRSF2|mRNA|CODING|NM_001195427|NM_001195427.ex.2),SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S134|SRSF2|mRNA|CODING|NM_003016|NM_003016.ex.1),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242532|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242533|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242534|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242535|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242536|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242537|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_024311|)	.	.
17	74733099	.	G	A	.	.	DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001080510|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206983|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206984|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206985|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206986|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NM_001206987|),DOWNSTREAM(MODIFIER||||METTL23|mRNA|CODING|NR_038193|),EXON(MODIFIER||||SRSF2|mRNA|CODING|NR_036608|),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D48|SRSF2|mRNA|CODING|NM_001195427|NM_001195427.ex.3),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D48|SRSF2|mRNA|CODING|NM_003016|NM_003016.ex.2),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242532|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242533|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242535|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242536|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_001242537|),UPSTREAM(MODIFIER||||MFSD11|mRNA|CODING|NM_024311|),UPSTREAM(MODIFIER||||MIR636|Non-coding_transcript|NON_CODING|NR_030366|),UTR_5_PRIME(MODIFIER||||MFSD11|mRNA|CODING|NM_001242534|NM_001242534.ex.1)	.	.
19	33792880	.	G	C	.	.	STOP_GAINED(HIGH|NONSENSE|taC/taG|Y147*|CEBPA|mRNA|CODING|NM_004364|NM_004364.ex.1),UPSTREAM(MODIFIER||||LOC80054|Non-coding_transcript|NON_CODING|NR_026887|)	.	.
19	56180968	.	C	T	.	.	SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D397|U2AF2|mRNA|CODING|NM_001012478|NM_001012478.ex.11),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D401|U2AF2|mRNA|CODING|NM_007279|NM_007279.ex.11)	.	.
20	30954295	.	A	G	.	.	INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_001164603|),INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_015338|)	.	.
20	30955512	.	G	A	.	.	INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_001164603|),INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_015338|)	.	.
20	30956927	.	G	A	.	.	INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_001164603|),INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_015338|),SPLICE_SITE_DONOR(HIGH||||ASXL1|mRNA|CODING|NM_001164603|),SPLICE_SITE_DONOR(HIGH||||ASXL1|mRNA|CODING|NM_015338|)	.	.
20	30956928	.	T	G	.	.	INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_001164603|),INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_015338|),SPLICE_SITE_DONOR(HIGH||||ASXL1|mRNA|CODING|NM_001164603|),SPLICE_SITE_DONOR(HIGH||||ASXL1|mRNA|CODING|NM_015338|)	.	.
20	31021086	.	G	A	.	.	INTRON(MODIFIER||||ASXL1|mRNA|CODING|NM_015338|),SPLICE_SITE_ACCEPTOR(HIGH||||ASXL1|mRNA|CODING|NM_015338|)	.	.
20	31022959	.	T	C	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L815P|ASXL1|mRNA|CODING|NM_015338|NM_015338.ex.12)	.	.
20	31024274	.	T	C	.	.	SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S1253|ASXL1|mRNA|CODING|NM_015338|NM_015338.ex.12)	.	.
20	31025163	.	A	G	.	.	UTR_3_PRIME(MODIFIER||||ASXL1|mRNA|CODING|NM_015338|)	.	.
21	36164910	.	G	A	.	.	INTRON(MODIFIER||||RUNX1|mRNA|CODING|NM_001001890|),INTRON(MODIFIER||||RUNX1|mRNA|CODING|NM_001754|)	.	.
21	36231876	.	CT	C	.	.	INTRON(MODIFIER||||RUNX1|mRNA|CODING|NM_001001890|),INTRON(MODIFIER||||RUNX1|mRNA|CODING|NM_001122607|),INTRON(MODIFIER||||RUNX1|mRNA|CODING|NM_001754|),SPLICE_SITE_ACCEPTOR(HIGH||||RUNX1|mRNA|CODING|NM_001001890|),SPLICE_SITE_ACCEPTOR(HIGH||||RUNX1|mRNA|CODING|NM_001122607|),SPLICE_SITE_ACCEPTOR(HIGH||||RUNX1|mRNA|CODING|NM_001754|)	.	.
22	30733111	.	C	A	.	.	SYNONYMOUS_CODING(LOW|SILENT|gtG/gtT|V605|SF3A1|mRNA|CODING|NM_001005409|NM_001005409.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtT|V670|SF3A1|mRNA|CODING|NM_005877|NM_005877.ex.4)	.	.
22	30733787	.	C	T	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A550T|SF3A1|mRNA|CODING|NM_001005409|NM_001005409.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A615T|SF3A1|mRNA|CODING|NM_005877|NM_005877.ex.5)	.	.
22	30734777	.	C	T	.	.	INTRON(MODIFIER||||SF3A1|mRNA|CODING|NM_001005409|),INTRON(MODIFIER||||SF3A1|mRNA|CODING|NM_005877|),SPLICE_SITE_DONOR(HIGH||||SF3A1|mRNA|CODING|NM_001005409|),SPLICE_SITE_DONOR(HIGH||||SF3A1|mRNA|CODING|NM_005877|)	.	.
22	30748939	.	C	T	.	.	INTRON(MODIFIER||||SF3A1|mRNA|CODING|NM_001005409|),INTRON(MODIFIER||||SF3A1|mRNA|CODING|NM_005877|),SPLICE_SITE_DONOR(HIGH||||SF3A1|mRNA|CODING|NM_001005409|),SPLICE_SITE_DONOR(HIGH||||SF3A1|mRNA|CODING|NM_005877|),UPSTREAM(MODIFIER||||CCDC157|mRNA|CODING|NM_001017437|)	.	.
X	15826395	.	G	T	.	.	INTRON(MODIFIER||||ZRSR2|mRNA|CODING|NM_005089|),SPLICE_SITE_DONOR(HIGH||||ZRSR2|mRNA|CODING|NM_005089|)	.	.
X	39911528	.	A	C	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gGt|V1649G|BCOR|mRNA|CODING|NM_001123384|NM_001123384.ex.1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gGt|V1667G|BCOR|mRNA|CODING|NM_001123383|NM_001123383.ex.1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gGt|V1667G|BCOR|mRNA|CODING|NM_017745|NM_017745.ex.1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gGt|V1701G|BCOR|mRNA|CODING|NM_001123385|NM_001123385.ex.1)	.	.
X	39933339	.	A	G	.	.	SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D420|BCOR|mRNA|CODING|NM_001123383|NM_001123383.ex.12),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D420|BCOR|mRNA|CODING|NM_001123384|NM_001123384.ex.11),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D420|BCOR|mRNA|CODING|NM_001123385|NM_001123385.ex.12),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D420|BCOR|mRNA|CODING|NM_017745|NM_017745.ex.12)	.	.
X	44833961	.	G	A	.	.	INTRON(MODIFIER||||KDM6A|mRNA|CODING|NM_021140|),SPLICE_SITE_DONOR(HIGH||||KDM6A|mRNA|CODING|NM_021140|)	.	.
X	44870265	.	G	C	.	.	INTRON(MODIFIER||||KDM6A|mRNA|CODING|NM_021140|),SPLICE_SITE_DONOR(HIGH||||KDM6A|mRNA|CODING|NM_021140|)	.	.
X	44894231	.	G	T	.	.	INTRON(MODIFIER||||KDM6A|mRNA|CODING|NM_021140|),SPLICE_SITE_DONOR(HIGH||||KDM6A|mRNA|CODING|NM_021140|)	.	.
X	44896935	.	G	A	.	.	INTRON(MODIFIER||||KDM6A|mRNA|CODING|NM_021140|),SPLICE_SITE_DONOR(HIGH||||KDM6A|mRNA|CODING|NM_021140|)	.	.
X	44922666	.	G	A	.	.	INTRON(MODIFIER||||KDM6A|mRNA|CODING|NM_021140|),SPLICE_SITE_ACCEPTOR(HIGH||||KDM6A|mRNA|CODING|NM_021140|)	.	.
X	44929077	.	C	A	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aAg|T726K|KDM6A|mRNA|CODING|NM_021140|NM_021140.ex.17)	.	.
X	44937644	.	G	C	.	.	INTRON(MODIFIER||||KDM6A|mRNA|CODING|NM_021140|),SPLICE_SITE_ACCEPTOR(HIGH||||KDM6A|mRNA|CODING|NM_021140|)	.	.
X	44969323	.	G	A	.	.	INTRON(MODIFIER||||KDM6A|mRNA|CODING|NM_021140|),SPLICE_SITE_ACCEPTOR(HIGH||||KDM6A|mRNA|CODING|NM_021140|)	.	.
X	44970626	.	G	A	.	.	INTRON(MODIFIER||||KDM6A|mRNA|CODING|NM_021140|),SPLICE_SITE_ACCEPTOR(HIGH||||KDM6A|mRNA|CODING|NM_021140|)	.	.
X	129147079	.	T	C	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Ctc|F111L|BCORL1|mRNA|CODING|NM_021946|NM_021946.ex.3)	.	.
X	133547519	.	A	T	.	.	INTRON(MODIFIER||||PHF6|mRNA|CODING|NM_001015877|),INTRON(MODIFIER||||PHF6|mRNA|CODING|NM_032458|),SPLICE_SITE_ACCEPTOR(HIGH||||PHF6|mRNA|CODING|NM_001015877|),SPLICE_SITE_ACCEPTOR(HIGH||||PHF6|mRNA|CODING|NM_032458|),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|A140|PHF6|mRNA|CODING|NM_032335|NM_032335.ex.6)	.	.
X	133547943	.	G	A	.	.	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G226R|PHF6|mRNA|CODING|NM_001015877|NM_001015877.ex.7),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G226R|PHF6|mRNA|CODING|NM_032458|NM_032458.ex.7),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G227R|PHF6|mRNA|CODING|NM_032335|NM_032335.ex.7)	.	.