Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
EFEMP2_chr11_65861441_65877800	65869978	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0026 a0004c0005t0001g0026	1	374	0.0027	0	c.608 others(5): Show c.608-2A>T		EFEMP2	ENSG00000172638.13	transcript	ENST00000307998.11	protein_coding	6/10						chr11	TogoVar
EFHB_chr3_19874472_19939217	19905655	CATGGCTC others(5159): Show CATGGCTCGTCCATCATTAAAATGTGGTGTTGGTACTCCATACACACTAC ACCTATGGAAACTTGATGGGTTATACTTTCGGTTCTTTGCCTCTCCTGTG GAAAAAGAAAGGAAGACTTATGACTTAAGCAACACGAATAACCTTATCAT GCAAGATGCACACTATGTTCTCATTGACATTGAAAATGAGAATGGAACAA AAAATGAAATTGTAACAGTGCAGAAACTGCACAGATTTAGCTACAGATGA CAGAAGCATTCCCCCATGTGAGCTGGGAGACTGGTGGGATGCTACACACA ACAATACGTTGTGTTAATATTTGAAAAGACATATGTAAAAAACTCCAAAG ACTCCATCAAAAAACTGTTAGAACTAATGAATTTGGCTGGGCACAGTAGC TCATGCCTGTAATCCCAGCACTTTGTGAGGCCGAGACTGGTGGATCACTT GAGGCCAGGAGTTCGAGACCAGTTCACCAGTCTGGCCAACATGGTGAAAC CGTGTCTTCTCTAAAAATTCAAAAATTAGCTGGTCATGATGGCATGCACC TGTAATCCCAGCTACTTCGGAGGCTGAGGCACGAGAATCGCTTGAACCCA GGAGGCGGAGGTTGTGGTAAGCCAAGATCGTGCCACTGCACTCCAGCCTG GGCAACAGAGTGAGGCTCTTTCTCAAAAAACAAAAGAACTAATAAGTGAA TTAAGTAAAGTCAAAGAATACAAAATCAACACATAAAAGTCCATGGCATT TCTATAAAAAATAACAACCTAGACAAAAAAGAAATCAAGAAAATAATTCA ATTTATGATAGCATAAAAAAATACTTAGGAATAAACTTAACCAAGGGGGT AAAAGACCTGTACACTGAAAACTATAAAACAATGATGAAAGAAATTGAAG AGGACACAAATAAAATGAAGATATTCATTCCATGCTCATTGATCAGAATA ATTAATTTTCTTAAAATGTTCATACTACCCAAAGCAAAATGCAGATTCAA TGTGATCCCTATCAAAATTCCAATAGCATTCTTCACAGAAATAGAAAAAA AAAAATCTTAAAAATTTATATAGAACCACAAAAGGCTCTGAATAGCCAAA GTAATTATTAGGAAAAAGAAAAAAGTTAGAGGCATCACACATCCTAAATT TAAATTATATTACAGAGCTGTAGTAATTAGAACAGTATGGTACTGGCATA AAAACAGACATACAGGCTAGTGGAACAGAATGGAGAGCCCAGAAATAAAT CCAAACATATACAATACACTAATTTTCAACAAGGGCAGCAAGAAGAAATG ACGACACAAGGATAGTCTCTTCAATAAATGGTCCTGGGAAACCTGATTTC CACATGCAACACCATACACAAAAATCAACTAAAAATAGATTAAAAAAAAA AAACTAAACGTTAAGACCTGAAACCATAAAACTCATAGAAGAAAAAATAG AGGAAAAACTTATTGACATTGGCCTTGGCAATGATGTCTTAGATACAAAA GCTCAGACTACAAAAGCAAAAATAAATAAATGAGACTACATCAAATTAAA AACCTTCTGCATAGCAAAGGAAACAATCACCAAAATGAAAAGGCAACCTA TGAGTTGGGAAAAAAATATTTGCAAACTATGTATCTGATAGAGGGTTAAT ATTCAAAATTTATAGAAAATATGTAGCTCAATTCTTAAAATGGGTGAAGA ACTTTAATATTTAGAAAGTAAGTAAGGACATTGTATGGGAAAAAGAGATA TCAATGATGAAAAACTGCAGGGTCTCCACCATTGTTATGGAAATCCTGAA GATCAAGGGAGGTATGGCAATGATTTAGGTCTCTGGCAGCACTTTCCACT ATGCTAAGATTTGAGAGGTTTGGTGTTTTGCACTTGTTCTCACTGAGATT TGGTGCGATCATCAGAACATTGCGACCCTCATATTTCATTTACCTCATAT TAGAAACATTCAAAGGGTGATTGAGAGCTGAGAAACCAACAGAGGAGTCT TTTTATTTAAAACTGAATACTGTGCTTTTTTCTTTTCAAGTCTTGATGTG GTATTAGTTTTCTATTTCGAGATAAGAAAGTAGGACTGAAACTAGAGAAC AACCAAGAGGGTAAGAAATGTTGGAGTAAAGATATTCAGCCTCACTAGTA ACTCAAATAATGTAAATAAAAACAGTAAATGTCTTGTTATTGAAGTAACA AGAAATTATAATTGTCTCTTAGTTAAGCAAAAATAAAGAAGATTGGCTGA GCTCATTATTGGGAAGGGTGTGGAGAAATGGATATTCTCATACTCTGGGT CTAAGGGCAAATTGGGCAGTAATTTGAGCTGACAGTTTGGCTCTAAAAGT AAAAATTTCTCAGAAATCTAGGAATGTAACTTAAGGAAATAGCCAATCAC ATTTACAAAGGTATATCAACAATATGTTTTTGTAATAGTGAAAATATAAT GTAGATACTGACATGAAAAGACATTCCAAAATATTTCATAAGACAAAAAA AGCAAAAGGAAAAATGTATATATGATGTGGAACAAAATGAACATACATAC TGATATATACAAAAGTGCAAAGAAAAACATCTATGAACATATTATCGGCT GGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAGGCA GATGGATCGCCTGAGATTAGAAGTTCGAGACCAGCCTGACCAACACGGTG AAACCCAGTCTCTACTAAAAATACAGAAATTAGCCAGGCATGGTGGCGGG CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCAGGCCACTTCACTCCAG CCTGGACGAAAGAGCAAAACTCCGTCTCAAAAAAAGAAAGAAAGAGAGAA AGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGTTCTGTGTGAGATAGAGAATTGTGGGAATTTTTTGTATATTG TATATTTCTGTATAGCTTTCATTTTATAAAAGTATCTATCACTTTAGTAA TGATTAAAATTAAGTTATTTTAAAGTATTAAGTGTATTTTAAATGTTGTA GGTCCATATTTATTGCTATCTACATATTATTTAAGTAAAAAATTTAAAAT ATATAGAGCAGGCTCCCTAAAAGCATGGAGAGTATTATCCCATTTATTTA ATGATTAATGATTTAATGGCTGAATGGATGGGGGTTAGAAAAAATGTTCA GAGAGAGGAAGTGGAGCAAGACGGCAGAATAGAAAGCTCCACTGATCATG TCCCAGTCCCGTGTCCCAGACCCACACCCGCCCCCCACCCCCTACAAGGA CCAAGTTGACAACTATCTACACAGATATGAGTGCCCATCTCAAAAATCAG GTGGGCAACTCATAGTACTTGATTTTAACTTCATAGCACTGAAAAAAAAA AGGCACTCAAGAGATAGAAAAAATAGTTTTGAATCACAGACACCACCCCT CCCCAACCCCGGCAGCAGCAGAGTGATGGGCAGAGCTTCTCCTGGCACCA GGGCAGGGAGAACACAGCAATTGTGAGGTATCAAACTCAGTGCTTTCCTG TTAGAGCAGAATGGAAAACTGAACCAAACTCAGCTGATGCCCGTCCCCAG AGGCAGCATTTAAATCAGCCCCACCAGAAAAGGAATTGCCAATCCCAGTA GTCCAAACTTGAGTGCCTGCAAACCTCGCCACCAAGGGCTACAGCACTCT GTGTCTCCAAGTAACCTTGAAAGGCAGTCTAGGCCATAAGGACTGGAACT CTTAGGCGACTCCCAGAGCAGAACCAGGCCCAGAGACAGTGGACTGGGGG TGGGGTAGGTGGTGGGATACATGTCATACTGGGACACCAGCTGGGGCAGC CAAGGGAATGCTGGCATCACCCCTCCCTTAACCCCAGGCTGCACAGCTCC GCTCATGGCTCCAAAAGGGACCCCTTCCTTCCGCTTGAGGAGAGGAGAGG GAAGAGCAGGGAAGACTTCACCTTGCATCTAGGACACCACCTCAGCCACA GCAAGATAGGGCACTGTGGGACTCAGGAGGCCGCCATTCCAGGCCCTGGT TTGCAGATGACGTTTCTAGACACATCCGGGGCCAAAAGGATGTGTCTTTC CTTCACTGCCTTGAAGGAAAGAACCCAATCCTGGCAGCATTCATCACCTG CTAACCGAAGAGCTCTTGGGCCCTGAATAACCAGCTGCAGTTATTCAGGG CCCAGGTAGTATATCAAGGGCCTTGGGTAAGCCTCTGAGACTTCCTGGCT TCAGAAGAGACTTAGCACATTACCAGCTGTGGTAGCTACAGAGCAAAACT CCTTCTGCTTGAGAAAAGTAGAGGGAAAAGTAAGGGGAACTTTGTCCTAC ACCTTGGGTACCAGCATGGCCACAGGGGAGCAGAGCACGAAGCAGGCTCT TAGGGTTCCTGATTCCAGGACTTGGCTCTTGAATAGCATTTCTAGACCTG CTCTGGGCCATAGAGGAATCCACTTCCCTGAAGGGTAAGTCCCAGGCCAT TAACTTCAAGCTGACTTAAGAGACCTTGGGCCTTAAGAGAACATTGGTGG TAGTCTGGCAGTATTCCTCATGGCCTGGGGTGGCGGTGGCTACCCAGTGA GGTTCCTCTGTCTTTGGGAGGGGGAGGGAAGAGTGGGAAAGACTGTATCT TGTGGTTTGAGTGCCAGCTCAGCTGCAATACAGTAGAATACCTGGTAGAC GTCTAAAATTTTTGACTCTAGTCCTTGACTCCCAGACAGTACTTCTGTAC CCACCCAGGGCCTGGGGGACCTCACCACCCTGAAGGGAAGGACACAGGCC TGGCTGGCTTTACCACCTGTTAATTGTAGAGCCCCAGGACCTTGAGTGAA CGTAGGCTGCAGCCAGAGGTTGAGTACAGCAGGACTTGGGTGAGACCAAA TGCTACACTAGCTTCAAGTCTGATCCAATACAGTCAGCAGTGGTGGCCAC AGGGGTACTTGTGTCACTCAACCCCCAGCTTTAGGTGGCTCAGAACCGAG AGAAAGACTGTATGTTTAGGAGAAAGTAAAGGAAAAGAACATGAGCCTCT GCCTTGTAACCCAGGGA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03831.hp2 HG03831.hp2	a0025 a0025	a0025c0037 a0025c0037	a0025c0037t0001 a0025c0037t0001	a0025c0037t0001g0136 a0025c0037t0001g0136	1	344	0.0029	-5166	c.128 others(14): Show c.1288+4482_1382del	p.Glu others(5): Show p.Glu431fs	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	6/13	1581/2860	1289/2502	430/833			chr3	TogoVar
EFNA1_chr1_155122876_155139899	155133938	G G	GCCCTCTC others(7): Show GCCCTCTCACCTTGC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	350	0.0029	14	c.506 others(26): Show c.506-16_506-3dupCCCTCTCACCTTGC		EFNA1	ENSG00000169242.12	transcript	ENST00000368407.8	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
EIF3CL_chr16_28374715_28408841	28392144	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01106.hp1 HG02257.hp1 HG02280.hp2 others(5): Show HG01106.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02647.hp1 HG02809.hp1 NA18522.hp2 NA20129.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0018 a0003c0003 a0006c0009 a0002c0018 a0003c0003 a0006c0009	a0002c0018t0001 a0003c0003t0002 a0006c0009t0002 a0002c0018t0001 a0003c0003t0002 a0006c0009t0002	a0002c0018t0001g0028 a0003c0003t0002g0010 a0003c0003t0002g0011 others(5): Show a0002c0018t0001g0028 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0016 a0006c0009t0002g0015	8	172	0.0465	0	c.777 others(5): Show c.777-2A>G		EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	8/20						chr16	TogoVar
EIF4B_chr12_53001456_53047215	53039625	TGCAGGAA others(27): Show TGCAGGAAAGATGGCAAAAAGGATCAAGACTCCAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0152 a0004c0008t0001g0152	1	372	0.0027	-34	c.168 others(45): Show c.1683-4_1712delGCAGGAAAGATGGCAAAAAGGATCAAGACTCCAG	p.Lys others(13): Show p.Lys562_Arg571del	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	14/15		1683/1836	561/611			chr12	TogoVar
ELAC2_chr17_12986612_13023027	13011784	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	400	0.0025	0	c.560 others(5): Show c.560-2A>G		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	6/23						chr17	TogoVar
EMILIN2_chr18_2842006_2921003	2906766	TCCCCGAC others(21): Show TCCCCGACGCCCGGCAGAGGCGCCCTCGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01123.hp1 HG03669.hp1 NA18945.hp2 others(4): Show HG01123.hp1 HG03669.hp1 NA18945.hp2 NA18950.hp2 NA18966.hp1 NA19065.hp2 NA19066.hp2	a0004 a0004	a0004c0011 a0004c0039 a0004c0043 a0004c0011 a0004c0039 a0004c0043	a0004c0011t0002 a0004c0011t0003 a0004c0039t0063 others(1): Show a0004c0011t0002 a0004c0011t0003 a0004c0039t0063 a0004c0043t0003	a0004c0011t0002g0184 a0004c0011t0003g0148 a0004c0011t0003g0287 others(4): Show a0004c0011t0002g0184 a0004c0011t0003g0148 a0004c0011t0003g0287 a0004c0011t0003g0329 a0004c0011t0003g0397 a0004c0039t0063g0017 a0004c0043t0003g0164	7	452	0.0155	-28	c.236 others(40): Show c.2360-11_2376delACGCCCGGCAGAGGCGCCCTCGCCCCCG	p.Lys others(5): Show p.Lys787fs	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	5/8		2360/3162	787/1053		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML2_chr19_45604400_45644397	45634457	CCACGGTA others(20): Show CCACGGTAGCCATAGCTGGAGCCACCCA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0037 a0010c0023t0001g0037	1	382	0.0026	-27	c.180 others(37): Show c.180-13_193delTGGGTGGCTCCAGCTATGGCTACCGTG	p.Tyr others(4): Show p.Tyr61fs	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	4/19	214/2234	180/1950	60/649			chr19	TogoVar
ENDOV_chr17_80410167_80443086	80415648	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	420	0.0024	0	c.57- others(4): Show c.57-2A>G		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	1/9						chr17	TogoVar
ENDOV_chr17_80410167_80443086	80422204	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(32): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG01257.hp2 HG01943.hp1 HG01952.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG03669.hp1 HG03831.hp2 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA19005.hp1 NA19058.hp1 NA19078.hp1 NA19083.hp1 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0018 a0001c0001t0001g0172 a0001c0001t0001g0257 others(15): Show a0001c0001t0001g0018 a0001c0001t0001g0172 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0014 a0001c0001t0002g0158 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0003g0147 a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0089 a0001c0001t0004g0163 a0001c0001t0004g0255 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0016g0262	35	420	0.0833	0	c.364 others(5): Show c.364-2A>G		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	3/9						chr17	TogoVar
ENTPD2_chr9_137043107_137059061	137048861	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	400	0.0025	0	c.128 others(6): Show c.1285-1G>A		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	8/8						chr9	TogoVar
ENTPD3_chr3_40382184_40433744	40397267	CTGAACAG others(3724): Show CTGAACAGTCATGCCATTACACTTGGTTTCCTTGGAGCTCAGTGAAAACA TCATGGCTATGATTACTGAACAGTCATGCCATTACACTTGGTTTCCTTGG AGCTCAGTGAAAACATCATGGCTATGAGTACAGGTTTTAGAGTCCGTTAG ACTCAGGCTTGATCCCAGGTCTGTGATCTTGGGCATTTACTTACTACTGT AAGCCTCGGTTTGCCCATGTGTCGAATGGTATGATATGATATGATATGAT ATGATAACATATGTCTTATACAGGCAATAACACAAAGCACTTTCTGCAGT GCCTAGAATAAGTGCAGGACAAGGCTTATTACTACTACTATTTATTATCA TAGTAATAATGATAATAATAATAAACAAATCTAAGAAAGTTGACCTTATG CTTCTGCTTTCGCTATTGCTTTAGACAGATCACACAATCCTTAAGTGTTG GACCAAGGAGACTGGCCCTTTCAGTTAACATTAATTGCATTCACTGTTAG ATACAGAGTAATTTAACCAGTTTCCTTATTCTATACATTTCTAAACTGAA AGACTGCTTCCTTTCAGTTAATCCACTGTGTCTTCAGATCCACATTTGAG CCATGGTTTTTTCTGACACTGCATTAGACAGAGGATTACTTACTACTTTT TATCCGAACATCACCTTGCCAGCTGAACTGAAATTCATTCCCATCCCCTC TCCCCCAAAAGAATCACACTGAGTTTCACTGTTTAGGCAAAAGAGCTCTG AAAACTGGTTAAAGACCATTTTTCCCACTTTTGAAAATGTCAGTGAATGA TGGTAGGGCTAGATCCGTGTGAGTCGGTAGAGGTGGGCCTATATCAGCAG GTGCCGGAGGGACAGCCATTTCTCCAGTCTCACAGAGCAAAGTCTGGCTG CTGCAGACCCTGGTGAAAGCTGGATCCCAGTTGGAGTTACAAATGAGAAT GGATACTCTTCTCTCTGATCTTGGCCCAGCAGCCCTGAGCTTCAGAAACA CAGGAAAAACATGCACCCTTTTTGAAGGGTTGGAATAAAGATTTGAGGAA AGGAAGGTGACAGTTTTTCTCCTATTCTCTCTCTCCTCTTGTTTTATGGT TCAGCACCAGGCGTGGCAGGGCGGGCTGGAGTGGTGGTGATCAGGTCAGG AGCAGGGGGGAGGAAAGAAAGCAGACCAAGAATATAGAGGCCTGGACCTC TTTAGTTTAGTGCCTGGTTTCCTTCTTGCCTTCAGTTTCAACCTGTACTT TAATCTCCCTGTGAGTCGCTGCCTGTGACAGATTATGAACAATGCCACCC TTGTTCCCCATGAGGGATGTCAGGTCAGGATCCTGATCAACATTCATCAT ACTGAAGGGCTGAGATTAAGAGGCTGTCCAAGTTCACATACCAGTGAACA CAGATGTTCTATTTCAAAATAATGGAGAGGCTATGATTCAGGAGCTGGAG CAACTTTTTAAAAATATGGTCCCATTTCAAACAAAACAAGCATTTGTAAT ATAGATAATAAAAAGTTGGAAACCTCCTAAATGTATAGGATCAGGAAATT GGTTAAATTACTCTGTACCTAAAAGTGAATACAATGAATGTATGAAAATG GTGATATCAATCTGTTTCTACTGTCAGGAAGACATGTTCATGATATACTT TTAAGAAAAGAGCATTGCATGGCCAGATGCGGTAGCTCATCCCTGTAATA CCAGCAGCATTTTGGGAGGCGGAGGTGGGTGAATCACTTGAGCCCAGGAG TTCGAGACCAGGCTGGGAAACATGGCGAAACCCTGTCTTTACAAAAAATA TAAAAATTAGCCAGGTGTGATGGTGCACACCTGTAATCCCAGCTACTCGA AAAGCTGGGGCTGAGAATCGATTGAGCCTGAGAAGTTGAGGCTGCAGTGA GTCGTTGGTGGCACCACTGCATATATACAATGATATATGTATATATCCAG ATACATATATACATATATTGTTAGAAAAGATACAACAAGGGCTAACGCAA TAGTTGGATTTGAGGGATGCTTTGTTTTCTTTTCTGTTTTTCTTGTTTTG TGATTTTATTTGTTTCTTTTGCTTGACTGGCTTTTCTATATATGCTAATA GCCTGTATTTATGAGTAGCCATTAAGCATTAGGCATATAGCCTTCTATTT ACTTCTGCAAGTAAGTCCTCTAAAGATGAGGGAACCCAGAAAGGTTAGGC AACTTACCCAGTCCAGCATCATAAAATCGAGAATCCATCTGAGTCAGCTT GCCTCCAGACCCAACTTCATCATCTTCTGTGGGACAGGCTAGGTTAACCC AAAGGTGGTGCGGTGGGAGACTTCAGGCCACCCTGAAGGCCTCTGGATGC CCTAGGATGACTCTGAGCACAAACAGATACGGGGCTTAGGTATGCATTGC TAATTCCAAATTCTATAGGCTACTAATACATGCTCTTTCCTGGTCAGGTT TGGTCCAGAGCCTGGGCTGGGCCAAACCTGCAGGTGAAACTTTCTAGTGC CTGCTCAAGTTGGACAAATTGGTCCAGGACTCTCAGCCTACTCTCCTGCA CACAGCCAGCCCCAGCACTGCCCAGCAACACCTGCCTGTTCATTTGTTGA CATACACATTGCCAAAGTGTGATCAATATGTCAATATTATTTTTTTATTT TGCTTTTTTTCTCCTTAATTATGAATACTTTAATTCTGAGCACTGATACA GGTATTAACATGCCTCAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCGGGAGTTTGAGA CCAGCCTGCCCAACATGGTGAAACCTTATCTCTACTAAAAACACAAAAAT TAGCCAGGGATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAG ATCGTGCCACTGCAATCCAGCCTGGGTGATAAGAGTGAACTGCATCTCAA AAAAAAAAAAAAAAAGAAAAAAGGAAATGCCTCTACCCTGTGAAAAACTT CTTATAACTTCTTCCTATGCTTTTATTTTGGTTGTTTATTTTTAGACTGA TAAGCCTAGAAGTTTGGAAATAGAGGGCATCCAGGTGACTATTCATTTTC CGTCTGAGACGAAGATGGCTTTTGTACCTCTCCCCAGAGGTCTGAATGAG GAAGAATCAGGCAACTCAATTGTATGCAAGATCCATCATGAAGTACAATT CTCAACCTTGGCTGAGTGTTGGACTCACCTGGGACTTTTAAAACCTGTTG ATGCCTGAGTCCACTCTCAGAGATTCTGATTTAATTGGTATGGGGTGTAG ACTTGGCATTGGGGGATTTTTTAAGCTCTCCAGGTGATTCTAATGCATTG CAAAGTGATAATTATTTCCTAGAACCTGCCCTACCTTTCCTCATTCCCTT CCCTCACAATCCAAGGAGACAAAATTGGTTTGGAGAAAATAATTTTTCTT ATTGATTAGCCCTTCCCTAAGCGAAGCAGTGTGGATTAAGGTACTCAGGG TTCTCAGTGGCCCACTGAGAAAGCAGTCCTCAGAGGAGTCCCGCCCATTC TGACTCTCCCTTTCCCTTTTTATTCAGTATGGTATTGTGCTGGATGCCGG GTCTTCAAGAACCACAGTCTACGTGTATCAATGGCCAGCAGAAAAAGAGA ATAATACCGGAGTGGTCAGTCAAACCTTCAAA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0230 a0007c0015t0001g0230	1	374	0.0027	-3731	c.169 others(12): Show c.169-3624_275del	p.Tyr others(4): Show p.Tyr57fs	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	4/11		169/1590	57/529		INFO_REALIGN_3_PRIME	chr3	TogoVar
ENTPD5_chr14_73958230_74024288	74015931	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	380	0.0026	0	c.-23 others(6): Show c.-237-1G>A		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	1/15						chr14	TogoVar
ENTPD5_chr14_73958230_74024288	74015932	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00642.hp2 HG00735.hp2 HG00642.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0337 a0001c0002t0002g0338	2	380	0.0053	0	c.-23 others(6): Show c.-237-2A>G		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	1/15						chr14	TogoVar
EOGT_chr3_68970225_69018684	69007823	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	444	0.0023	0	c.312 others(5): Show c.312-2A>T		EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	5/17						chr3	TogoVar
EPB41L4A_chr5_112157619_112424277	112165119	C C	CTAAAA CTAAAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0021 others(26): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0002c0003 a0002c0007 a0002c0008 a0002c0018 a0003c0004 a0003c0005 a0004c0010 a0004c0011 a0004c0014 a0005c0006 a0005c0015 a0006c0012 a0006c0016 a0006c0023 a0007c0013 a0007c0017 a0008c0009 a0009c0029 a0010c0025 a0012c0024 a0013c0020 a0014c0028 a0015c0027 a0016c0019 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0025 a0001c0002t0031 a0001c0002t0032 a0001c0002t0036 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0049 a0001c0002t0050 a0001c0021t0002 a0001c0026t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0019 a0002c0003t0026 a0002c0003t0044 a0002c0007t0002 a0002c0007t0021 a0002c0007t0030 a0002c0007t0034 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0002c0018t0035 a0003c0004t0004 a0003c0004t0023 a0003c0004t0048 a0003c0005t0009 a0003c0005t0013 a0004c0010t0011 a0004c0011t0001 a0004c0014t0011 a0005c0006t0004 a0005c0015t0004 a0006c0012t0002 a0006c0012t0015 a0006c0016t0001 a0006c0023t0002 a0007c0013t0007 a0007c0017t0002 a0008c0009t0010 a0008c0009t0023 a0009c0029t0010 a0010c0025t0001 a0012c0024t0033 a0013c0020t0047 a0014c0028t0003 a0015c0027t0010 a0016c0019t0010 a0017c0030t0001	a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0103 others(217): Show a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0219 a0001c0001t0005g0113 a0001c0001t0005g0116 a0001c0001t0005g0123 a0001c0001t0005g0139 a0001c0001t0005g0157 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0006g0013 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0007g0126 a0001c0001t0007g0141 a0001c0001t0007g0145 a0001c0001t0007g0147 a0001c0001t0007g0197 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0014g0182 a0001c0001t0016g0044 a0001c0001t0017g0004 a0001c0001t0017g0048 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0020g0002 a0001c0001t0022g0209 a0001c0001t0024g0111 a0001c0001t0024g0129 a0001c0001t0027g0064 a0001c0001t0028g0014 a0001c0001t0029g0005 a0001c0001t0037g0135 a0001c0001t0038g0169 a0001c0001t0040g0137 a0001c0001t0045g0200 a0001c0001t0046g0104 a0001c0001t0051g0226 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0105 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0143 a0001c0002t0001g0162 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0002g0012 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0097 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0108 a0001c0002t0003g0115 a0001c0002t0003g0118 a0001c0002t0003g0140 a0001c0002t0003g0146 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0142 a0001c0002t0005g0150 a0001c0002t0005g0222 a0001c0002t0014g0098 a0001c0002t0014g0124 a0001c0002t0015g0046 a0001c0002t0019g0075 a0001c0002t0022g0109 a0001c0002t0025g0223 a0001c0002t0025g0224 a0001c0002t0031g0059 a0001c0002t0032g0042 a0001c0002t0036g0125 a0001c0002t0039g0173 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0002t0043g0165 a0001c0002t0049g0094 a0001c0002t0050g0225 a0001c0021t0002g0016 a0001c0026t0001g0203 a0002c0003t0001g0155 a0002c0003t0002g0006 a0002c0003t0003g0096 a0002c0003t0006g0038 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0006g0056 a0002c0003t0012g0095 a0002c0003t0012g0215 a0002c0003t0012g0218 a0002c0003t0012g0221 a0002c0003t0019g0073 a0002c0003t0026g0003 a0002c0003t0044g0220 a0002c0007t0002g0052 a0002c0007t0021g0076 a0002c0007t0030g0053 a0002c0007t0034g0079 a0002c0008t0001g0132 a0002c0008t0001g0214 a0002c0008t0016g0057 a0002c0008t0021g0078 a0002c0018t0035g0077 a0003c0004t0004g0087 a0003c0004t0004g0090 a0003c0004t0004g0167 a0003c0004t0004g0217 a0003c0004t0023g0151 a0003c0004t0048g0085 a0003c0005t0009g0025 a0003c0005t0009g0026 a0003c0005t0009g0030 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0027 a0003c0005t0013g0028 a0003c0005t0013g0032 a0004c0010t0011g0071 a0004c0010t0011g0072 a0004c0010t0011g0080 a0004c0011t0001g0152 a0004c0011t0001g0153 a0004c0014t0011g0069 a0004c0014t0011g0070 a0005c0006t0004g0088 a0005c0006t0004g0128 a0005c0006t0004g0207 a0005c0006t0004g0208 a0005c0006t0004g0210 a0005c0006t0004g0211 a0005c0015t0004g0161 a0006c0012t0002g0047 a0006c0012t0015g0045 a0006c0016t0001g0130 a0006c0023t0002g0015 a0007c0013t0007g0106 a0007c0013t0007g0107 a0007c0017t0002g0029 a0008c0009t0010g0049 a0008c0009t0010g0050 a0008c0009t0023g0202 a0009c0029t0010g0037 a0010c0025t0001g0138 a0012c0024t0033g0074 a0013c0020t0047g0204 a0014c0028t0003g0163 a0015c0027t0010g0036 a0016c0019t0010g0011 a0017c0030t0001g0188	222	228	0.9737	5	c.193 others(18): Show c.1933-6_1933-2dupTTTTA		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	22/22						chr5	TogoVar
EPHX2_chr8_27486143_27550564	27540552	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0327 a0001c0004t0004g0327	1	374	0.0027	0	c.127 others(6): Show c.1277-2A>G		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	14/18						chr8	TogoVar
EPSTI1_chr13_42881388_42997241	42895109	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03942.hp1 NA20905.hp2 HG03942.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0158 a0001c0002t0001g0115 a0001c0002t0001g0158	2	352	0.0057	0	c.816 others(5): Show c.816-1G>A		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	9/10						chr13	TogoVar
ERICH2_chr2_170765378_170803977	170798040	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	390	0.0026	0	c.111 others(6): Show c.1115-1G>T		ERICH2	ENSG00000204334.8	transcript	ENST00000697325.1	protein_coding	8/9						chr2	TogoVar
ERICH5_chr8_98059568_98098609	98089075	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19060.hp1 NA19060.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0414 a0007c0014t0001g0414	1	442	0.0023	0	c.59- others(4): Show c.59-1G>T		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2						chr8	TogoVar
ERICH6_chr3_150654885_150708920	150686355	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0048 a0002c0001t0001g0048	1	348	0.0029	0	c.554 others(5): Show c.554-1G>A		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	3/13						chr3	TogoVar
ERRFI1_chr1_8006727_8031309	8015693	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02145.hp1 HG02965.hp1 HG03209.hp2 others(5): Show HG02145.hp1 HG02965.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0031 a0001c0003t0001g0051 a0001c0003t0001g0014 a0001c0003t0001g0031 a0001c0003t0001g0051	8	402	0.0199	0	c.-73 others(5): Show c.-73-1G>A		ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding	1/3						chr1	TogoVar
ESYT3_chr3_138429616_138484925	138476441	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02735.hp2 HG02735.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0178 a0012c0020t0001g0178	1	338	0.0030	0	c.257 others(6): Show c.2575-2A>G		ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	21/22						chr3	TogoVar
EXTL2_chr1_100867391_100899842	100888830	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02258.hp2 NA20300.hp1 HG02258.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	2	410	0.0049	0	c.-71 others(5): Show c.-71-2A>G		EXTL2	ENSG00000162694.14	transcript	ENST00000370114.8	protein_coding	1/4						chr1	TogoVar
FAM161B_chr14_73927276_73955094	73934395	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	442	0.0023	0	c.180 others(6): Show c.1806-1G>C		FAM161B	ENSG00000156050.10	transcript	ENST00000286544.5	protein_coding	8/8						chr14	TogoVar
FAM47E_chr4_76246721_76288783	76283379	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0184 a0004c0004t0001g0184	1	392	0.0026	0	c.110 others(6): Show c.1105-2A>G		FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	7/7						chr4	TogoVar
FAM90A17_chr8_7741034_7754044	7746649	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18974.hp2 NA18974.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0000 a0011c0017t0000	a0011c0017t0000g0059 a0011c0017t0000g0059	1	108	0.0093	0	c.124 others(5): Show c.124-2A>T		FAM90A17	ENSG00000285720.1	transcript	ENST00000650426.1	protein_coding	1/3						chr8	TogoVar
FAM98C_chr19_38398093_38414084	38406908	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02280.hp1 NA19240.hp2 HG02280.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	380	0.0053	0	c.751 others(5): Show c.751-2A>C		FAM98C	ENSG00000130244.13	transcript	ENST00000252530.10	protein_coding	6/7						chr19	TogoVar
FAM9B_chrX_9019232_9039127	9027966	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	258	0.0039	1	c.394 others(6): Show c.394-1dupG		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding	6/8						chrX	TogoVar
FANCA_chr16_89732549_89821647	89784963	GCCTGTGT others(58): Show GCCTGTGTGGAGAGAAGAGCGTGAAGCCCAGGACAGCCAGGCGCGGCTGC ACCACCTAGGCAGTGT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18950.hp1 NA18950.hp1	a0033 a0033	a0033c0025 a0033c0025	a0033c0025t0003 a0033c0025t0003	a0033c0025t0003g0180 a0033c0025t0003g0180	1	334	0.0030	-65	c.136 others(77): Show c.1360-64_1360delACACTGCCTAGGTGGTGCAGCCGCGCCTGGCTG TCCTGGGCTTCACGCTCTTCTCTCCACACAGG	p.Ala others(5): Show p.Ala454fs	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	15/43	1392/5452	1360/4368	454/1455			chr16	TogoVar
FANCG_chr9_35068839_35084942	35075326	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.143 others(6): Show c.1434-1G>C		FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	10/13						chr9	TogoVar
FANCM_chr14_45130930_45205890	45159080	TTA TTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02056.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03831.hp2 HG03927.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18999.hp1 NA19011.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA20805.hp1	a0003 a0005 a0011 others(2): Show a0003 a0005 a0011 a0017 a0027	a0003c0002 a0005c0004 a0011c0014 others(2): Show a0003c0002 a0005c0004 a0011c0014 a0017c0033 a0027c0027	a0003c0002t0001 a0005c0004t0001 a0011c0014t0001 others(2): Show a0003c0002t0001 a0005c0004t0001 a0011c0014t0001 a0017c0033t0001 a0027c0027t0001	a0003c0002t0001g0002 a0003c0002t0001g0174 a0003c0002t0001g0175 others(37): Show a0003c0002t0001g0002 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201 a0003c0002t0001g0202 a0003c0002t0001g0206 a0005c0004t0001g0010 a0005c0004t0001g0017 a0005c0004t0001g0023 a0005c0004t0001g0024 a0005c0004t0001g0099 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0011c0014t0001g0140 a0011c0014t0001g0141 a0017c0033t0001g0190 a0027c0027t0001g0109	43	238	0.1807	-2	c.139 others(15): Show c.1397-3_1397-2delTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
FANCM_chr14_45130930_45205890	45185207	TCTTA TCTTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0022 a0027	a0002c0003 a0002c0006 a0002c0007 others(22): Show a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0031 a0002c0032 a0003c0002 a0004c0005 a0005c0004 a0006c0010 a0007c0009 a0008c0011 a0008c0025 a0009c0016 a0010c0015 a0011c0014 a0012c0012 a0014c0034 a0015c0030 a0016c0029 a0017c0033 a0018c0024 a0019c0026 a0022c0019 a0027c0027	a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 others(24): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0008t0004 a0002c0008t0007 a0002c0031t0006 a0002c0032t0001 a0003c0002t0001 a0004c0005t0001 a0005c0004t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0008c0025t0002 a0009c0016t0005 a0010c0015t0001 a0011c0014t0001 a0012c0012t0002 a0014c0034t0002 a0015c0030t0001 a0016c0029t0001 a0017c0033t0001 a0018c0024t0001 a0019c0026t0008 a0022c0019t0001 a0027c0027t0001	a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 others(107): Show a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0002g0142 a0002c0003t0002g0153 a0002c0003t0002g0155 a0002c0003t0002g0156 a0002c0003t0002g0162 a0002c0003t0002g0165 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0006t0002g0212 a0002c0006t0002g0213 a0002c0006t0002g0214 a0002c0006t0002g0215 a0002c0006t0002g0216 a0002c0006t0002g0217 a0002c0006t0002g0218 a0002c0006t0002g0219 a0002c0006t0002g0220 a0002c0007t0003g0146 a0002c0007t0003g0147 a0002c0007t0003g0148 a0002c0007t0003g0149 a0002c0007t0003g0166 a0002c0007t0003g0171 a0002c0008t0004g0143 a0002c0008t0004g0150 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0004g0173 a0002c0008t0007g0163 a0002c0031t0006g0160 a0002c0032t0001g0209 a0003c0002t0001g0002 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201 a0003c0002t0001g0202 a0003c0002t0001g0206 a0004c0005t0001g0154 a0004c0005t0001g0157 a0004c0005t0001g0158 a0004c0005t0001g0159 a0004c0005t0001g0161 a0004c0005t0001g0164 a0004c0005t0001g0210 a0004c0005t0001g0211 a0005c0004t0001g0010 a0005c0004t0001g0017 a0005c0004t0001g0023 a0005c0004t0001g0024 a0005c0004t0001g0099 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0006c0010t0001g0137 a0006c0010t0001g0138 a0006c0010t0001g0203 a0006c0010t0001g0204 a0006c0010t0001g0205 a0007c0009t0001g0012 a0007c0009t0001g0013 a0007c0009t0001g0014 a0007c0009t0001g0015 a0007c0009t0001g0016 a0008c0011t0002g0051 a0008c0011t0002g0052 a0008c0011t0002g0053 a0008c0025t0002g0136 a0009c0016t0005g0207 a0009c0016t0005g0208 a0010c0015t0001g0197 a0010c0015t0001g0198 a0011c0014t0001g0140 a0011c0014t0001g0141 a0012c0012t0002g0006 a0014c0034t0002g0139 a0015c0030t0001g0168 a0016c0029t0001g0226 a0017c0033t0001g0190 a0018c0024t0001g0144 a0019c0026t0008g0145 a0022c0019t0001g0019 a0027c0027t0001g0109	114	238	0.4790	-4	c.451 others(17): Show c.4516-5_4516-2delCTTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
FASTKD3_chr5_7854159_7874031	7859540	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	462	0.0022	0	c.188 others(6): Show c.1885-1G>A		FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	6/6						chr5	TogoVar
FBF1_chr17_75904574_75946042	75914933	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18964.hp1 NA18964.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0218 a0003c0003t0002g0218	1	318	0.0031	0	c.262 others(6): Show c.2629-1G>C		FBF1	ENSG00000188878.20	transcript	ENST00000636174.2	protein_coding	24/29						chr17	TogoVar
FCER2_chr19_7683776_7707131	7696916	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	456	0.0022	0	c.380 others(5): Show c.380-2A>G		FCER2	ENSG00000104921.15	transcript	ENST00000597921.6	protein_coding	7/10						chr19	TogoVar
FCF1_chr14_74708144_74743620	74734034	CTCAGTGA others(34): Show CTCAGTGACCTCAGTGTGAACATCACTCCATGTCTCTTACAG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0115 a0003c0006t0003g0115	1	364	0.0028	-41	c.454 others(53): Show c.454-41_454-1delTCAGTGACCTCAGTGTGAACATCACTCCATGTC TCTTACAG		FCF1	ENSG00000119616.11	transcript	ENST00000341162.8	protein_coding	6/7						chr14	TogoVar
FCHO1_chr19_17746477_17793561	17754311	TTGCAGAT others(13): Show TTGCAGATGGGGAAACTGAGG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0083 a0001c0002t0013g0083	1	352	0.0028	-20	c.-18 others(31): Show c.-182-5_-168delTGCAGATGGGGAAACTGAGG		FCHO1	ENSG00000130475.16	transcript	ENST00000596536.6	protein_coding	2/29				834		chr19	TogoVar
FCRL1_chr1_157789403_157825120	157801578	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0138	1	406	0.0025	0	c.887 others(5): Show c.887-1G>A		FCRL1	ENSG00000163534.15	transcript	ENST00000368176.8	protein_coding	5/10						chr1	TogoVar
FER1L5_chr2_96637764_96709883	96691824	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	226	0.0044	0	c.307 others(6): Show c.3076-1G>A		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	29/52						chr2	TogoVar
FER_chr5_108742897_109201841	108867763	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp2 HG02559.hp2 HG02572.hp2 others(4): Show HG01884.hp2 HG02559.hp2 HG02572.hp2 HG02886.hp2 HG02965.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0001t0009 a0001c0004t0006 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0004t0006 a0001c0004t0023 a0001c0008t0012	a0001c0001t0002g0115 a0001c0001t0009g0082 a0001c0004t0006g0078 others(4): Show a0001c0001t0002g0115 a0001c0001t0009g0082 a0001c0004t0006g0078 a0001c0004t0006g0079 a0001c0004t0006g0080 a0001c0004t0023g0083 a0001c0008t0012g0081	7	138	0.0507	1	c.482 others(6): Show c.482-3dupC		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FGF16_chrX_77442389_77462278	77456274	C C	CA CA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	309	0.0032	1	c.379 others(6): Show c.379-2dupA		FGF16	ENSG00000196468.8	transcript	ENST00000439435.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
FIG4_chr6_109686296_109830426	109732621	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(13): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0015 a0003c0005 a0003c0007 a0003c0017 a0003c0018 a0004c0006 a0004c0008 a0005c0019 a0006c0013	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0004 a0002c0009t0002 a0002c0012t0001 a0002c0014t0002 a0002c0015t0001 a0003c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0017t0001 a0003c0018t0001 a0004c0006t0001 a0004c0008t0002 a0005c0019t0006 a0006c0013t0002	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0122 others(274): Show a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0198 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0255 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0279 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0351 a0001c0001t0002g0353 a0001c0001t0003g0001 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0014 a0001c0003t0001g0097 a0001c0003t0001g0145 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0188 a0001c0003t0001g0243 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0319 a0001c0003t0001g0368 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0218 a0002c0002t0001g0358 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0139 a0002c0002t0002g0150 a0002c0002t0002g0164 a0002c0002t0002g0211 a0002c0002t0002g0225 a0002c0002t0002g0298 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0003g0209 a0002c0002t0004g0006 a0002c0002t0004g0123 a0002c0002t0004g0186 a0002c0002t0004g0196 a0002c0002t0004g0197 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0238 a0002c0002t0004g0294 a0002c0002t0004g0305 a0002c0002t0004g0352 a0002c0002t0004g0354 a0002c0002t0004g0355 a0002c0002t0004g0356 a0002c0002t0004g0357 a0002c0002t0004g0359 a0002c0002t0004g0360 a0002c0002t0005g0125 a0002c0002t0005g0126 a0002c0002t0005g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0140 a0002c0004t0001g0160 a0002c0004t0001g0174 a0002c0004t0001g0178 a0002c0004t0001g0189 a0002c0004t0001g0199 a0002c0004t0001g0205 a0002c0004t0001g0212 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0219 a0002c0004t0001g0220 a0002c0004t0001g0231 a0002c0004t0001g0232 a0002c0004t0001g0242 a0002c0004t0001g0248 a0002c0004t0001g0256 a0002c0004t0001g0295 a0002c0004t0004g0230 a0002c0009t0002g0157 a0002c0009t0002g0158 a0002c0009t0002g0159 a0002c0012t0001g0137 a0002c0014t0002g0011 a0002c0015t0001g0181 a0003c0005t0001g0002 a0003c0005t0001g0068 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0311 a0003c0005t0001g0312 a0003c0005t0001g0316 a0003c0005t0001g0317 a0003c0005t0001g0320 a0003c0005t0001g0325 a0003c0005t0001g0326 a0003c0005t0001g0327 a0003c0005t0001g0329 a0003c0005t0001g0330 a0003c0005t0001g0331 a0003c0005t0001g0332 a0003c0005t0001g0333 a0003c0005t0001g0334 a0003c0005t0001g0335 a0003c0005t0001g0336 a0003c0005t0001g0337 a0003c0005t0001g0338 a0003c0005t0001g0340 a0003c0005t0001g0341 a0003c0005t0001g0342 a0003c0005t0001g0343 a0003c0005t0001g0345 a0003c0005t0001g0346 a0003c0005t0001g0349 a0003c0005t0001g0350 a0003c0007t0001g0313 a0003c0007t0001g0321 a0003c0007t0001g0328 a0003c0007t0001g0347 a0003c0007t0002g0348 a0003c0017t0001g0314 a0003c0018t0001g0318 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0324 a0004c0006t0001g0339 a0004c0006t0001g0344 a0004c0008t0002g0309 a0004c0008t0002g0310 a0004c0008t0002g0315 a0004c0008t0002g0322 a0004c0008t0002g0323 a0005c0019t0006g0016 a0006c0013t0002g0222	279	370	0.7541	1	c.447 others(6): Show c.447-3dupT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
FKBP14_chr7_30005587_30031702	30022817	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0055 a0003c0004t0001g0055	1	326	0.0031	0	c.198 others(5): Show c.198-1G>T		FKBP14	ENSG00000106080.11	transcript	ENST00000222803.10	protein_coding	1/3						chr7	TogoVar
FKBP14_chr7_30005587_30031702	30022818	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0055 a0003c0004t0001g0055	1	326	0.0031	0	c.198 others(5): Show c.198-2A>G		FKBP14	ENSG00000106080.11	transcript	ENST00000222803.10	protein_coding	1/3						chr7	TogoVar
FLNA_chrX_154343531_154379634	154364166	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18957.hp2 NA18957.hp2	a0021 a0021	a0021c0042 a0021c0042	a0021c0042t0001 a0021c0042t0001	a0021c0042t0001g0098 a0021c0042t0001g0098	1	279	0.0036	0	c.213 others(6): Show c.2137-1G>T		FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	14/47						chrX	TogoVar
FLNA_chrX_154343531_154379634	154364167	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18957.hp2 NA18957.hp2	a0021 a0021	a0021c0042 a0021c0042	a0021c0042t0001 a0021c0042t0001	a0021c0042t0001g0098 a0021c0042t0001g0098	1	279	0.0036	0	c.213 others(6): Show c.2137-2A>T		FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	14/47						chrX	TogoVar
FLT4_chr5_180596506_180654600	180614180	C C	CTGGGGAG others(197): Show CTGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGG AAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGT GGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAG GGAAGCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTG GTGGA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0008 a0013c0019t0008	a0013c0019t0008g0059 a0013c0019t0008g0060 a0013c0019t0008g0059 a0013c0019t0008g0060	2	388	0.0052	204	c.322 others(217): Show c.3220-2_3220-1insTCCACCACGGGACACGCTTCCCTCCGTCTCCC CATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACA CGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTCCGTCTC CCCATCCACCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCGCGGGA CAAGCTTCCCTCTGTCTCCCCA		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29						chr5	TogoVar
FLT4_chr5_180596506_180654600	180614180	CTGGGGAG others(27): Show CTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01167.hp1 HG02109.hp1 HG02809.hp2 others(3): Show HG01167.hp1 HG02109.hp1 HG02809.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1	a0006 a0021 a0024 a0006 a0021 a0024	a0006c0014 a0006c0033 a0021c0034 others(1): Show a0006c0014 a0006c0033 a0021c0034 a0024c0046	a0006c0014t0002 a0006c0014t0009 a0006c0033t0009 others(2): Show a0006c0014t0002 a0006c0014t0009 a0006c0033t0009 a0021c0034t0009 a0024c0046t0009	a0006c0014t0002g0374 a0006c0014t0009g0301 a0006c0014t0009g0302 others(3): Show a0006c0014t0002g0374 a0006c0014t0009g0301 a0006c0014t0009g0302 a0006c0033t0009g0376 a0021c0034t0009g0287 a0024c0046t0009g0327	6	388	0.0155	-34	c.322 others(48): Show c.3220-35_3220-2delTCCACCACGGGACAAGCTTCCCTCTGTCTCC CCA		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29						chr5	TogoVar
FMO5_chr1_147181261_147230339	147189008	GCTCATGC others(9568): Show GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCAC AAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAATCCCATCTC TACTAAAAATACAAAAATGAGCTGGGTTTGGTGGTGTGCACCTGTAGTCC TAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAG AGGTTGCAGTGAGCGAAGATCGTGCCACTTACTCCAGCCTGAGTGACAGA GTGAGACTCCGTCTAAAAAAAAAAAAAGGCAGTTTAAGGAGTAAGGATGG AAGTTAACAATGCAGAAGGCTTAGGGAGGCAGCAAAAGGTGAGAATTTAG AAAATTTAGTGCAGAGGTTTGGCAGTGAAAGGAAGGAGGAAAATAGGAGA GCACCTGGAAGTTGTAACGGAATTAAATAAAAACTTACTTTCTCCTCCTC CCACACAAAGGAAAGTTATGCAAGTATCATCAGTTGAAGATAACCACCTC TTTAGGCCTGGAATGATTGTGTCTCTCAGTTTTCCACAGAAATTTAGAGA CTTACCATCAATTTCCACTTTGTCCAAATAAAAAACACCCAGCGATTGAG CTTAAGTTCTGAAATTCAGACTGCTAAATGATTGTGTTCATCAAAACACT AAGCAGCTGGCTGTTACCATGTTCCCAACTCACAGTGACTATTCATACCA TGAGCCACTGTGACTTGAGTGTGCTGTCACATGAGCATTGCCAGCAAAGC GGCCACTGCAGACTTGTAAATCTACCTACAGATTTGTAATTCACCCATAG CTACCTCTCATTCATTTACTGTCACTCTTCCTTCCTCTGGCAAGTCTACT AGCACTTCAAGTAATCCTCACAAAAATAATATACCTTCTGCCTTCTGATT TTATTTCCATATGCATTTTCCTATGTGACTTTTTTTAGGCATTAAACATA TGATTTTAGACACCTAAAACTTTTCTCTCTTTTCTTACCCATATTTAGAC TACTAGTGCTATTTCTCCATTCTATTGTCACAAATTATTTTTCCTTTTTT CTTCATAATAGAATCTAAATCCTTAAGCTAACATGAGGCAGTTAAATACA GTACAATATTTCTTTTATTAAGAAATAAGTAGAAATGTAACCATATATCT TCCTGGGAGAGTTTCTTACCTTTTGTCAATTTCCTCTTGAGCTTTAGATA TTTCTGCCATCATTTCACTCTGTGAGGGCAATGTCTTTAGACCTAAAAAC AAAAATTAACATTTTAACTGTAAAATTACCTCAGAAGGAACAATAATCCT ATAAACAATTACTATGCTATGGAGAATTCAAAGAAATACAGGGTAAGTTT CCTGTACTCAAGGAGGTTACAATTCACTTGATCACCTTACCACCACCACA ATATAATATTAACATCTGCAGCTTACTCTACTTATTCTTCTTTGTCTTTG GAAGGGATTTCCCCTACTCTGACTTCCAACCAATACCTGCCTCCTCCCTA ATGTAGTCTTTCAGTTGGGAAATGAAATATGGACATGAGAAAATGGACTT AAAGGTATATGGAAAATTAGTTACAAAGTTAAAGGGCAGGGGAGTGGGAA AACACAGCTGCACCTGTATTCTTGATAACAAAGGGACCTTATATCAACAG AAAGAGAATGAAGTAAAAATAAATTTTTTGTTTTTATTATTATACCTTAA GTTTTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATACGTATACAT GTGCCATGCTGGTGTGCAGCACCCATTAACTCGTCATTTAGCATTAGGTA TATCTCGTAATGCTATCCCTCCCCACTACCCCCACCCCACAACAGTCCCT GGAGTGTGATGTTCCCCTTCCTGTGTCCATCTGTTCTGATTGTTCAATTC CCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTCTCCTTGTGATAG TTTGCTGAGAATGATGGTTTCCAGTTTAATCCATGTCCCTACAAAGGACA TGAACTCTTCATTTTTTATGGCTGCATAATATTCCATGGTGTATATGTGC CACATTTTCTTAATCCAGTCTATCGTTGTTGGACATTTGGCTTGGTTCCA AGACTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGG ATGGTTGGGTCAAATGGTACTTCCAGTTCTAGATTCCTGAGGAATCGCCA CAGTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCCCATTGTGGT TTTGATTTGCATTTCTCTGATGGCCAGCGATGATGAGAATTTTTTCATGT ATTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCC TTTGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTATAAACTTGTTT GAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG TGAAAATTTTTTCCCATTTTCTTGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTAGTCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATC CAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTAT TAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTGTCAGGTTTGTCAAAG ATCAGATGGTTGTAGACATGCGGCATTATTTCTGAGGGCTCTGTCCTGTT CCATTGATCTATATCTCCCTTTTGGTACCAGTACCATGCTGTTTTGGTTA CTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCGTGATGCCTCCAGCT TTGTTCTTTTGGCTTAGGATTGACTTGGTGATGCGGGCTCTTTTTTGGTT CCATATGAACTTTAAAATAGTTTTTTCCAATTCTGTGAAGAAAGTCATTG GTCACTTGATGCGGATGGCATTTAATCTATAAATTACCTTGGGCAGTATG GCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTT CCATTTCTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTATTTCT CCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTT ATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTC TGTTTGTCTGTTGTTGGTGTATAAGACTGCTTGTGATTTTTGTACATTGA TTTTGTATCCTGAGACTTTGCTGAAGTTGCTCATCAGCTTAAGGAGATTT TGGGCTGAGACAATGGGGTTTTCTAGATATACAATCATGTCGTCTGCAAA CAGGGACAATTTGACTTCCTCTTTTCCTAATCGAATACCCTTTATTTCCT TCTCCTGCCTAATTGCCCTGGCCAGAATATCCAACACTCTGTTGAATAGG AGTGGTGAGAGAGGGCATCCCTATCTTGTGCCAGTTTTCAAAGGGAATGC TTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGG TAGCTCTTATTATTTTCAGATACATCCCATCGATACCTAATTTATTGAGA GTTTTTAGCATGAAGTGTTGTTGAATTCTGTCAAAGGCCTTTTCTGCATC TATTGAGATAATCATGTGGTTTTTGTCATTGGTTCTGTTTATATGCTGGA TTACATTTATTGATTTGTGTATGTTGAACCAGCCTTGCATCCCAGGGATG AAGCCCACTTGATCATGGCAGATAAGCTTTTTGATGAGCTGCTGGATTCA GTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATA TTGGTCTAAAATTCTTTTTTGTTGTGTCTCTGCCAGGCTTTGGTATCAGG ATGATGCTGGCCTCATAAAATGAGTTAGGGAAGATTCCTTCTTTTTCTAT TGATTGGAATAGTTTCAGAAGGAATGGTACCAGCTCCTCTTTGTACCTCT GGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGT AAGCTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAG AGATTCAGCTTCTTCCTGGTTTAGTCTTGGGAGGGTGTATGTGTTGAGGA ATTTATCCGTTTCTTCTAGATTTTCTAGTTTATTTGTGTAGAGGTGTTTA TAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATC CCCTTTATCATTTTTACTGCATCTATTTGATTCTTCTCTTTTCTTCTTTA TTAGTCTTGCTAGCAGTTTATCAATTTTGTTGATCCTTTCAAAAAACCAG CTCCTGGATTCATTAATTTTTTGAAGGGTTTTTTGTGACTTAATTTCCTT CAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTTCTAGCTTTTGAAT GTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCA ATTTTGGATCTTTCCTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTT CCCTCTACACACTGCTTTAAATGTGTTCCAGAGATTCTGGTATGTTGTGT CTTTGTTCCCATTGGTTTCAAAGAACATCTTTATTTCTGCTTTCGTTTCG TTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGT TGAGTGGTTTTGAGTGAGTTTTTTAGTCCTGAGTTCTAGTTTCATTGCAC TGTGGTCTGAGAGACAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTG AGGAGTGCTTTACTTCCAACTATGTGATCAATTTTGCAATAGGTGTGGTG TGGTGCTGAAAAAAATGTATATTCCGTTGATTTGGGGTGGAGAGTTCTGT AGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTA TCCTTGTTAACCTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGT GTTAAAGTCTCCCATTATTATTGCGTGGGAGTCTAAGTCTCTTTGTAGGT CACTAAGGACTTGCTTTATGAATCTGGGTGCTCCTGCATTGGGTGCATAT ATATTTAGGATAGTTAGGTCTTCTTGTTGAATTGATCCCTTTACCATTAT TTAATGGCCTTCTTTGTCTCTTTAGATCTTTGCTGGTTTAAAGTCTGTTT TATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCGATTTGCT TGGTAGATCTTCCTCCATCCCTTTATTTTGAGCCTATGTGTGTCTCTGCA CATGAGATGGGTTTCCTGAATACAGCACACTGTTGGGTCTTGACTCTTTA TCCAATTTGCCAGTCTGTGTATTTTAATTGGAGCATTTAGCCCATTTACA TTTAAAGTTAATATTGTTATGTGTGAATTTGGTTCTGTGATTATGATGTT AGCTGGTTATTTTGCTTGTTAGTTGATGCAGTTTCTTCCTAGCCTTGACA GTCTTTACATTTTGGCATGTTTTTGCAGTGGCTGGTACCGGTTGTTCCTT TCCATGTTTAGTGCTTCCTTCAGGAGCTCTTTTAGAGCAGGCCTGGTGGT CACAAAATCTCTCAGCATTTGCTTGTCTGTAAAGTATTTTATGTCTCCTT CACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTC TTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAG AGTTACTGCCGAGAGATCTGCTGTTAGTCTGATGGGCTTCCCTTTGTGGG TAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCA ACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTTGAGGA GTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAATGTTGGCCTGCC TTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCC AACTTGGTTCCATTCTCCCCGTCACTTTCAGGTTCACCAATCCGACGTAG ATTTGGTCTTTTCACATAGTCCCATATTCCTTGGATGCTTTGTTCGTTTC TTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCACTTCATTTCATTCCTT TCATCTTCCATCACTGATATCCTACCAAACCCAAATAATTTTTTTTTGTA GTTTTAGTAGAGACGAGGTTTCACCATATTGGTCAGGCTGGTCTCGAACT CCTGACCTCAGATGATCCACCCGTCTCTGCATCCCAAGGTGCTGGGATTA CAGGCATGAGCCACCATGCCCAGCCAAAATAAATCTTAATCACATTTTAT GCCTAAAGTCCTGTGGAAGATAAGCTTCATTTTCTAAACATGTTTCTTTG ATAAGAGTAGGGGTTAAGGCCAAGGGGAACTCATAATACCTAATATTAAC TGATAAATTTAAGTAAGATGCACAAACAGTTCCAGTTGTAGGAATTATAC ACCAAGGACAGGGCTAGACTAAGGCTTAATAGTATTTAAGCCAGTATGAA CAATGCTAAGCTTAAACAATTAGTTGTATGCCCCTATAACTAGGGACTAT GCCATGTAGAAGATTTTGGCCACATCCAGTCCTAAGGTGTCACTCCATAA AATTGTGGAATATGGAATTTCAGAATGGCAATATATTTTACCTGATACAA GCATTCTTTCTACAAGTACTCTAACCTAGTGGTTATCTCATTCCTCTTTA AACATCACTGGTGATGGGTATCTATAATAATTATATCTGAGGTGATTATA TAATTATTTGACTGCTCTGGCTGCTGGAACATTATTGTTTTTATTGACCC CAAGATCTGACTCTTTGCATTTGCACCACTGGACCAAGCTCTGCTTTCTG GAGCCACAGAGTTTAATGTTAATACATGACAGCTCTTGAAACATTTGGAA ATGATTGTCATAACTCCTTTAAGTCTTCTCATTATCAGGCTAAACAGTAC ATGTTTCCCATATAATGGTTTTCACATTCTCTGCCATCTTGGTTGCCCTT CACTAAGCATACTCTAATAACTATCCTGGTGTATCCCTCTTAAAATATGG AACTCAGAAGTTCATCACTCTCAAATAGCCTTCTGTTGTTTTCCATGTGT TTTTACATTTTAGCCATGGGAATTATTATTTATCATCATAAATCAATTAG GAAACACTGAAATGCTTCATTTAAGCTTAATCATAGGTCTCTTCGGATAC TCAAAATAAGCGTTTTGAGAGTCAATTTCCAAATTACTTCTACACAACCA CAAGTTTTACTTCTATTAGCTAGAAACATGAAGGAGGAGGTATATTTCTT GATTGTGGGAGACACCCAATTCATAAAAGAAAGAAAAAAACAACAAAAAA CCCTATCTATTACCCTATCTGTCTATATATAGATAGATAAAGAGGTATAT ACATCTTAGTCTAGAGCTCATGGGGTGAAAAAATTTAAAAAAATTAAAAA ATTTTAAAAAGATGTATACATCTTTTTACGTGTATACTCTGTGGTACAGT TATGTCTTAATTCATAAATTTTGTTTTTGCAGTGTTTCCTTATTTAGACA CATTAGCTTTACCATATTTCTTATCTCCCTCCATGTCTTTGCTCCCTGTC TTAGTTTCCCAATTCCAATGAATGGCCTCAACACCTGAACAGATTCTTTT CTGTCTCTCTTCTCCAACATGCTTTCTGTCACCAAATTCTTCAGATTTGC CTGTGAAATTTCATTTAAGTCTGGCTCCTCCAATTCCTTTAGAGTGTCAT TACCTTGGTTTAAAGCTCTCATGCTGTCTTACTGAGACTTTTACCACAGG CTCGTACTGACCTATTTCCCATTTCACTCCTCTCTAACATATCTTCTAAA CTGGAGATCTGATTTGACTCCTCTTCCAGTTAAAATCCTTCAGTGGTTCT CCAACTTGTACCTTAAATGCAAACTCTTGATATTGCCTGTGAATATTTCT AGTTTCATTTTCCTTCATTCCTATAACACTTTACCAGCATTCTGAACTAC TTGCAGTTCCCAGAACTCTATTTGTTCTGTCACTTTCATCTAACTTTGCA TAAACAGTAGTGATTATTTCCCCTCTATGGTCAATATTTCCTTGTCCTTT TAGTAAATTCCTATGTAGTTGTAGGGAGAATTGGGTACTTATTGCCCACT GCTCTCATGGCAGCTCTTCTGCATTGCTACTGGAGCACTTGTTTAGGATA TAGTTAAATATCTGCTGAATGAACAAATCATTAAGCGTCTGTTTACTTGT CTGTCTTTGATATGGTTTGGCTGTGTCCCCACCCAAATCTTATCTTGAAT TTTGGGTCCCACAATCCCCATGTGTCATGGGAGGGGCCTGGTGGGAGGTG ATTTAATCATGGGGTGGTTACTCTCATACTGCTCATGCTGTTCTCATGAT ACTGAGTGAGTTCTCACGAGATCTGATGGTTTTATACGGGGCTTTCCCTT TCACTCAGCACTCATTCTCTCTCCTGCCACCCTGTGAAGAAGTTCCTTCT GCCATGATTGTAAGTTTCCTGAGGCCTCCCCAGCCATGCAGAACTGTGAG TGAATTAAACCTCTTTCCTTTAGAAACTACTCAGCCTCAGGCAGTTCTTT ATAGCAGCATGAGAATGGGCTAACACAGTCTTCCTTGCTTGGCTCTGCAT TCCAGAAAGATAGGGATTTTCTGTATGGTCATATTTGCTTCTCCAGCCCC TAGCAGAAGGCCTGGTACATACTAAAAGGTCAGTATATGTTATCTGAAGA ATGTTGAAGAACAGTGAGGAACTGAAGTTCAGAGATCTTCCAAGGGTTCC AAGACAAGGTGGGAAGGAAGAGAGTCTGAATTAGAGTTCTGTGGTGGTAG GCCTTCAGTCTGCTGTCAGCCTAAAGCAGGTTGTATCTGTGTAATCCTGA CTTGCTCCTGCATATTTCAGTGTATAGCTAATGTTATGAGAGAAAAGAGA TCTGGCTCCCATTCTGCAATTTCAGTCCAGTTCAGGCTTTTAACATAACT GGAAATTGGCTAAGGTAGCCCATAAGCTGAGATCCTCAAATAAGAAGTTT CTACATCAGAATTTAGAATTTAATTTACCTCAAGGCTAAACTGACATTTC TTAGAATAGATGTTTATTAGATACCTCTTATGTGCTAGGCAGTGGTCTAG GCTTGCAATACAAAGGCAAATAAACATGAGTCCTTTACTTAAGGAGCTAT CACTATATTACAAAGGGAGGGAAGAAATATGCATAGACTTTTCCTATAGA AATAAAAAGTAAAAGGAGGGCATATCAAGAAGAAAGCACAGTGGAAGCAA AAGCACAGGGTACAAGGGTACCTGCTGTGTTTGCTGCTTAGTGGGTACGT CATCCAGTGCATCTAGAGTATTGTAGGAAGTATGGTAAAGACTAGTGAAA GATGGGCCTGAGGCCGGGTACAGTGA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02451.hp2 HG03225.hp2 HG02451.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	2	406	0.0049	-9575	c.118 others(19): Show c.1183+2569_1256+1168del		FMO5	ENSG00000131781.13	transcript	ENST00000254090.9	protein_coding	8/9						chr1	TogoVar

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Search Results (Total: 1040 hits)