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	status	chr	external
HRC_chr19_49146198_49160396	49154453	ACATCATC others(8): Show ACATCATCATCATCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp1 HG03139.hp1 HG03195.hp1 others(5): Show HG02451.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp1 NA21309.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0009 a0008c0009t0001g0009	8	406	0.0197	-15	c.770 others(22): Show c.770_784delATGATGATGATGATG	p.Asp others(13): Show p.Asp257_Asp261del	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding	1/6	943/2357	770/2100	257/699		chr19	TogoVar
HRC_chr19_49146198_49160396	49154632	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG03831.hp1 HG03831.hp2 others(1): Show HG02559.hp2 HG03831.hp1 HG03831.hp2 NA19080.hp2	a0017 a0029 a0037 a0017 a0029 a0037	a0017c0022 a0029c0044 a0037c0038 a0017c0022 a0029c0044 a0037c0038	a0017c0022t0001 a0029c0044t0001 a0037c0038t0001 a0017c0022t0001 a0029c0044t0001 a0037c0038t0001	a0017c0022t0001g0029 a0029c0044t0001g0062 a0037c0038t0001g0050 a0017c0022t0001g0029 a0029c0044t0001g0062 a0037c0038t0001g0050	4	406	0.0099	-3	c.603 others(10): Show c.603_605delGGA	p.Glu others(6): Show p.Glu202del	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding	1/6	764/2357	603/2100	201/699		chr19	TogoVar
HRG_chr3_186661014_186683234	186677158	GATC GATC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01175.hp2 HG02258.hp1 HG02280.hp1 others(4): Show HG01175.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02818.hp2 HG02970.hp2 HG03225.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0032 a0009c0009t0002g0048 a0009c0009t0002g0143 others(1): Show a0009c0009t0002g0032 a0009c0009t0002g0048 a0009c0009t0002g0143 a0009c0009t0002g0151	7	472	0.0148	-3	c.863 others(10): Show c.863_865delATC	p.His others(6): Show p.His288del	HRG	ENSG00000113905.5	transcript	ENST00000232003.5	protein_coding	7/7	881/1947	863/1578	288/525	INFO_REALIGN_3_PRIME	chr3	TogoVar
HRNR_chr1_152207076_152229193	152213253	TGAGCCAG others(1403): Show TGAGCCAGACCCATGTTGGCCGTAGCTGGAAGACTGCCCTGAACCAGACC CGTGTCGGCCGTGGCTAAGAGACTGGCCAGATCCAGCCCCATGTCGGCCA TAGCCAGAAGACTGACTGGAGCCAGAGCCACGGTGGCCATAGCTGGAAGA CTGGCCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCTGATG TAGAACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACCATGC TGACTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAAAGAC AGAAGAGTGACCCAAGCGAGACTCATATGGGCCACGGCTGGAAGAACGAC CTGAGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAAACCGGAC CCATGTCGGCCGCGGCTAGGGGACTGGCCAGATCCAGACCCTTGTCGGCC GTGGCCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAGTGGGAAG ACGAACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGAT CTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAGACCCATG CTGACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGACCAAAGC CAGAAGACTCGCCTAAGCCAGACCCATGTTGGCCACTGCTGGAAGACCGA CCGGAGCCAGACCCATGTCGGCCGTAGCTGGGAGACTGCCTTGACCCAGA CCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCCTGTCGGC CATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAA GACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGA TGTAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCAT GTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAG CCAGAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCA CCCTGAGCCAGACCCATATGGGCTGTAGCTGGAAGACTGCCCAGAACCAG ACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCA TGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATA GCTGGAAGATGAACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACT GTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCA GATCCATGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCGTGGTG ACCAAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGG AAGACCAACCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG01109.hp1 HG02027.hp2 others(10): Show HG00438.hp2 HG01109.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02809.hp1 HG02965.hp1 HG03225.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0020 a0001c0037 others(3): Show a0001c0013 a0001c0020 a0001c0037 a0001c0040 a0001c0121 a0001c0175	a0001c0013t0005 a0001c0020t0001 a0001c0037t0001 others(3): Show a0001c0013t0005 a0001c0020t0001 a0001c0037t0001 a0001c0040t0001 a0001c0121t0001 a0001c0175t0001	a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0020t0001g0021 others(4): Show a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0020t0001g0021 a0001c0037t0001g0025 a0001c0040t0001g0043 a0001c0121t0001g0127 a0001c0175t0001g0066	13	418	0.0311	-1410	c.696 others(9): Show c.6966_8375del	p.Gly others(15): Show p.Gly2323_Ser2792del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	8451/9629	6966/8553	2322/2850		chr1	TogoVar
HRNR_chr1_152207076_152229193	152215156	CGGGAAGA others(2813): Show CGGGAAGACGAACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTG TCCTGATCTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAG ACCCATGCTGACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGA CCAAAGCCAGAAGACTCGCCTAAGCCAGGCCCATGTTGGCCACTGCTGGA AGACCGACCGGAGCCAGACCCATGTCGGCCATAGCTGGGAGACTGCCTTG ACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCC TGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTG GCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACT GTCCTGATGCAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTA GATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTG ACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGG AAGACCACCCTGAGCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCA GAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCC AGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCT GACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTA GATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACC TGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACT CATGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCA CTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGA GTGCCCGGAACCGGACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATC CAGAGCCCTGTTGGCCATAGCTAGAAGACTGACTTGAGCCAGAGCCATGC TGACCGTGGCTGGAAGACTGACCTGTGCTAGATCCCTCCTGGTCAAAGGT TGATGACTGTCCTGATGTAGAACCATGCTGTCCTTGGCTACAGAAGTGCC CTGAGCCACTACCATGCTGACTGTAAGCAGAGGAATGTCCTGAGCCAGAC TCATGTTGACCAAAGACAGAAGAGTGACCCGAGCGAGACTCATATGGGCC ACGGCTGGAAGAACGACCTGAGCCAGACCCATGTTGGCCGTGGCTGGAGG AGTGCCCCAAACCGGACCCATGTCGGCCGCGGCTAGGGGACTGGCCAGAT CCAGACCCTTGTCGGCCGTGGCCCGAAGACTGACGGGAGCCAGACCCATG CTGACCATAGCGGGAAGACGAACGTGAGCTAGATCCGTGTCGTTCACCCC TAGATGACTGTCCTGATCTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGA CCTGAGCCAGACCCATGCTGACTGTAACTAGAGGACTGCCCTGAGCTAGA CTCGTGGTGACCAAAGCCAGAAGACTCGCCTAAGCCAGACCCATGTTGGC CACTGCTGGAAGACCGACCGGAGCCAGACCCATGTCGGCCGTAGCTGGGA GACTGCCTTGACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGA TCCAGAGCCCTGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCAT GCTGACCGTGGCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAG CTCGATGACTGTCCTGATGTAGAACCATGTTGCCCATGGGTAGAGGAATG ACCTGAGCTAGATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAG ACTCTCGGTGACCTAAGCCAGAAGAGTGACTGGAGCCAGACTCATATGGG CCACGGCTGGAAGACCACCCTGAGCCAGACCCATATGGGCTGTAGCTGGA AGACTGCCCAGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACT GGCCAGATCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCA GACCCATGCTGACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTCG TTCACCCCTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGG AGGAGTGACCTGAGCCAGATCCATGCTGAGTGCAACCAGAGGACTGCCAT GAGCTAGACTCGTGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCC ATGTCGGCCACTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGT AGCTGGAAGAGTGCCCAGAACCGGACCCATGTCGGCCGCGACTAGGAGAC TGGCCAGATCCAGCCCCATGTCGGCCATAGCCAGAAGACTGACTGGAGCC AGAGCCACGGTGGCCATAGCTGGAAGACTGGCCTGTGCTAGATCCCTCCT GGTCAAAGGTTGATGACTGTCCTGATGTAGAACCATGCTGTCCTTGGCTA CAGAAGTGCCCTGAGCCACTACCATGCTGACTGTAAGCAGAGGAATGTCC TGAGCCAGACTCATGTTGACCAAAGACAGAAGAGTGACCCGAGCGAGACT CATATGGGCCACGGCTGGAAGAACGACCTGAGCCAGACCCATGTTGGCCG TGGCTGGAGGAGTGCCCCAAACCGGACCCATGTCGGCCGCGGCTAGGGGA ATGGCCAGATCCAGACCCTTGTCGGCCGTGGCCCGAAGACTGACGGGAGC CAGACCCATGCTGACCATAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0191 a0001c0191	a0001c0191t0013 a0001c0191t0013	a0001c0191t0013g0191 a0001c0191t0013g0191	1	418	0.0024	-2820	c.365 others(9): Show c.3653_6472del	p.His others(15): Show p.His1218_Ser2157del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6548/9629	3653/8553	1218/2850		chr1	TogoVar
HRNR_chr1_152207076_152229193	152215548	CGATGACT others(701): Show CGATGACTGTCCTGATGCAGAACCATGTTGCCCATGGGTAGAGGAATGAC CTGAGCTAGATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGAC TCTCGGTGACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATATGGGCC ACGGCTGGAAGACCACCCTGAGCCAGACCCATATGGGCCGTAGCTGGAAG ACTGCCCAGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGG CCAGATCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGA CCCATGCTGACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTTGTT CACCCCTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAG GAGTGACCTGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCATGA GCTAGACTCATGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCCAT GTCGGCCACTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGTAG CTGGAAGAGTGCCCGGAACCGGACCCATGTCGGCCGCGACTAGGAGACTG GCCAGATCCAGAGCCCTGTTGGCCATAGCTAGAAGACTGACTTGAGCCAG AGCCATGCTGACCGTGGCTGGAAGACTGACCTGTGCTAGATCCCTCCTGG TCAAAGGTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG02027.hp2 HG02040.hp1 others(1): Show HG00438.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0013t0005g0018 a0001c0013t0005g0182	4	418	0.0096	-708	c.537 others(9): Show c.5373_6080del	p.Thr others(15): Show p.Thr1792_Ser2027del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6156/9629	5373/8553	1791/2850		chr1	TogoVar
HRNR_chr1_152207076_152229193	152216566	CGGGAAGA others(1403): Show CGGGAAGACGAACGTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTG TCCTGATCTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAG ACCCATGCTGACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGA CCAAAGCCAGAAGACTCGCCTAAGCCAGACCCATGTTGGCCACTGCTGGA AGACCGACCGGAGCCAGACCCATGTCGGCCGTAGCTGGGAGACTGCCTTG ACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCC TGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTG GCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACT GTCCTGATGTAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTA GATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTG ACCTAAGCCAGAAGAGTGACTGGAGCCAGACTCATATGGGCCACGGCTGG AAGACCACCCTGAGCCAGACCCATATGGGCTGTAGCTGGAAGACTGCCCA GAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCC AGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCT GACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTCGTTCACCCCTA GATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACC TGAGCCAGATCCATGCTGAGTGCAACCAGAGGACTGCCATGAGCTAGACT CGTGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCA CTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGA GTGCCCAGAACCGGACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATC CAGCCCCATGTCGGCCATAGCCAGAAGACTGACTGGAGCCAGAGCCACGG TGGCCATAGCTGGAAGACTGGCCTGTGCTAGATCCCTCCTGGTCAAAGGT TGATGACTGTCCTGATGTAGAACCATGCTGTCCTTGGCTACAGAAGTGCC CTGAGCCACTACCATGCTGACTGTAAGCAGAGGAATGTCCTGAGCCAGAC TCATGTTGACCAAAGACAGAAGAGTGACCCGAGCGAGACTCATATGGGCC ACGGCTGGAAGAACGACCTGAGCCAGACCCATGTTGGCCGTGGCTGGAGG AGTGCCCCAAACCGGACCCATGTCGGCCGCGGCTAGGGGAATGGCCAGAT CCAGACCCTTGTCGGCCGTGGCCCGAAGACTGACGGGAGCCAGACCCATG CTGACCATAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00609.hp1 HG00673.hp1 others(67): Show HG00408.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02523.hp2 HG02738.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA20905.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0003 a0001c0038 others(10): Show a0001c0001 a0001c0003 a0001c0038 a0001c0041 a0001c0182 a0001c0186 a0001c0195 a0001c0196 a0001c0197 a0001c0216 a0001c0221 a0001c0222 a0016c0058	a0001c0001t0002 a0001c0001t0012 a0001c0003t0003 others(11): Show a0001c0001t0002 a0001c0001t0012 a0001c0003t0003 a0001c0038t0003 a0001c0041t0002 a0001c0182t0003 a0001c0186t0002 a0001c0195t0002 a0001c0196t0002 a0001c0197t0002 a0001c0216t0002 a0001c0221t0002 a0001c0222t0002 a0016c0058t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 others(15): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0012g0226 a0001c0003t0003g0003 a0001c0038t0003g0041 a0001c0041t0002g0044 a0001c0182t0003g0204 a0001c0186t0002g0205 a0001c0195t0002g0210 a0001c0196t0002g0051 a0001c0197t0002g0211 a0001c0216t0002g0227 a0001c0221t0002g0232 a0001c0222t0002g0233 a0016c0058t0002g0199	70	418	0.1675	-1410	c.365 others(9): Show c.3653_5062del	p.His others(15): Show p.His1218_Ser1687del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	5138/9629	3653/8553	1218/2850		chr1	TogoVar
HRNR_chr1_152207076_152229193	152218701	GCTAGATC others(1391): Show GCTAGATCCATGTTGTTCGCTCCTAGATGACTGTCCTGACCTAGAGCCGT GTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCATGCTGAGTGTAA CCAGAGGACTGCCCTGAGCTAGACTTGTGACCAAAGCCAGAAGACTGGCC TGAGCCAGACCCATGTCGGCCACTGCTGGAAGACCGACCGGAGCCAGACC CATGTCGGCCATAGCTGGGAGACTGCCCTGACCCAGACCCACGCTGGCCG TGGCCTGGAGACTGGCCAGATCCAGAGCCATGTCGGCCGCGGCCCGAAGC GTGATGGGAGGCAGACTCATGCTGACCATAGCTGGAAGATTGACCTGAGC TAGAGTCATGTTGGCCGGAGCTTGATGACTGCCCTGACGTAGATCCATGT CGTCCCTGGCTAGAGAAGTGACCTGAGGCAGAACCATGCTGACTATAGCC CTGTCCTGAGCCAGACTCGTGTTGCCCAAAACCAGAAGCCTGGCCTGAGC CAGACTCATAATGGCCACAGCTGGAAGAACAACTTGTGCCAGACCCGTGT TGGCCGTGGCTGGAGGAGTGCCCTGAACTGGACCCATGTCGGACACGGCT AGGAGAGTGGCCAGATCCAGACCCTTGTCGGCCGTGGCCCGAAGATTGAT GGGAGCCCGACCCATGCTGACCATAGCTGGAAGACAAACCTGAGCTAGAT CCGTGTTGTTCACTCCTAGATGACTGTCCTGACCTAGAGCCGTGTTTTCT GTAGCCGGAGGAGTGACTTGAGCCAGATCCATGCTGACTGTAACCAGAGG ACTGCCCTGAGCCAGACTTGTGACCAAAGCCGGAAGACTGGCCTGAGACA GACCCATGTGGGCCATTGCTTGAAGACCAACCGGAGCCAGACCCATGTTG GCCGTAGCTGGAAGAGTGCCCAAAATCGGACCCATGTCGGCCGCGACTAG GAGACTGGCCAGATCCAGAGCCCTGTTGGCCATAGCGAGAAGACTGACTT GAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGACCTGAGGTAGCTCC ATGTTGGCCACAGCTCGATGACTGTCCTGATGTAGAACCATGTTGCCCAT GGGTAGAGGAATGACCCGAGCTAGATCCGTGTTGACCGTAGCCAGAGGAC TGTCCTGAGCGAGACTCTTGGTGACCTAAGCCAGAAGAGTGACCGGAGCC AGACTCATATGGGCCACGGCTTGAAGACCTCCCTGAGCCATACCCATGTG GGCCATAGCTGGAAGACTGCCTGGAACCAGACTCATGTCGGCCACGGCTA GGGCTAGGAGACTGGCCAGATCCAGACCCATGTCGGCTGTGTCCCAAAGA TTGACGGGAGCCAGACCCATGCTGACCATAGCTGGAAGATGAACCTGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0180 a0001c0180	a0001c0180t0001 a0001c0180t0001	a0001c0180t0001g0071 a0001c0180t0001g0071	1	418	0.0024	-1398	c.153 others(9): Show c.1530_2927del	p.Ala others(13): Show p.Ala511_Ser976del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	3003/9629	1530/8553	510/2850		chr1	TogoVar
HSFX2_chrX_149587512_149600314	149594608	GGGA GGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18968.hp2 NA18968.hp2	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0008 a0000c0009t0008	a0000c0009t0008g0029 a0000c0009t0008g0029	1	279	0.0036	-3	c.90_ others(8): Show c.90_92delTCC	p.Pro others(5): Show p.Pro31del	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	706/1966	90/1272	30/423		chrX	TogoVar
HSPA1B_chr6_31822738_31835254	31829755	TGTGTAAC others(44): Show TGTGTAACCCCATCATCAGCGGACTGTACCAGGGTGCCGGTGGTCCCGGG CC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG00735.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0000 a0004c0018t0001g0000	1	421	0.0024	-51	c.180 others(60): Show c.1806_1856delGTGTAACCCCATCATCAGCGGACTGTACCAGGGTGC CGGTGGTCCCGGGCC	p.Cys others(13): Show p.Cys603_Pro619del	HSPA1B	ENSG00000204388.7	transcript	ENST00000375650.5	protein_coding	1/1	2019/2517	1806/1926	602/641		chr6	TogoVar
HTT_chr4_3069681_3248957	3074876	CCAG CCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG01109.hp1 HG01175.hp2 others(30): Show HG00738.hp2 HG01109.hp1 HG01175.hp2 HG01433.hp1 HG02040.hp1 HG02109.hp1 HG02273.hp2 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03942.hp2 HG04228.hp2 NA18906.hp1 NA18947.hp1 NA18950.hp1 NA18964.hp1 NA18986.hp2 NA19002.hp2 NA19009.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA21309.hp2	a0006 a0007 a0010 others(7): Show a0006 a0007 a0010 a0032 a0033 a0046 a0047 a0073 a0074 a0075	a0006c0015 a0006c0022 a0006c0037 others(14): Show a0006c0015 a0006c0022 a0006c0037 a0006c0099 a0007c0007 a0007c0053 a0007c0058 a0010c0009 a0010c0056 a0032c0036 a0033c0097 a0033c0098 a0046c0055 a0047c0054 a0073c0100 a0074c0095 a0075c0094	a0006c0015t0001 a0006c0022t0001 a0006c0037t0001 others(15): Show a0006c0015t0001 a0006c0022t0001 a0006c0037t0001 a0006c0037t0021 a0006c0099t0001 a0007c0007t0003 a0007c0053t0003 a0007c0058t0033 a0010c0009t0003 a0010c0056t0007 a0032c0036t0001 a0033c0097t0001 a0033c0098t0001 a0046c0055t0011 a0047c0054t0001 a0073c0100t0001 a0074c0095t0002 a0075c0094t0003	a0006c0015t0001g0139 a0006c0015t0001g0158 a0006c0015t0001g0162 others(30): Show a0006c0015t0001g0139 a0006c0015t0001g0158 a0006c0015t0001g0162 a0006c0015t0001g0163 a0006c0022t0001g0034 a0006c0022t0001g0036 a0006c0022t0001g0039 a0006c0037t0001g0184 a0006c0037t0021g0146 a0006c0099t0001g0047 a0007c0007t0003g0023 a0007c0007t0003g0024 a0007c0007t0003g0025 a0007c0007t0003g0026 a0007c0007t0003g0027 a0007c0007t0003g0028 a0007c0053t0003g0104 a0007c0058t0033g0009 a0010c0009t0003g0276 a0010c0009t0003g0277 a0010c0009t0003g0288 a0010c0009t0003g0289 a0010c0009t0003g0291 a0010c0056t0007g0200 a0032c0036t0001g0112 a0032c0036t0001g0140 a0033c0097t0001g0061 a0033c0098t0001g0051 a0046c0055t0011g0204 a0047c0054t0001g0287 a0073c0100t0001g0046 a0074c0095t0002g0106 a0075c0094t0003g0064	33	294	0.1122	-3	c.108 others(10): Show c.108_110delGCA	p.Gln others(5): Show p.Gln37del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	253/13472	108/9429	36/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074876	CCAGCAG CCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 HG00609.hp2 HG00639.hp2 others(58): Show HG00423.hp1 HG00609.hp2 HG00639.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG03195.hp1 HG03239.hp2 HG03704.hp1 HG03834.hp1 HG04199.hp2 NA18939.hp1 NA18942.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19058.hp1 NA19058.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA20905.hp1	a0001 a0013 a0020 others(10): Show a0001 a0013 a0020 a0028 a0029 a0030 a0062 a0063 a0064 a0065 a0066 a0067 a0068	a0001c0002 a0001c0003 a0001c0085 others(15): Show a0001c0002 a0001c0003 a0001c0085 a0001c0089 a0013c0013 a0020c0052 a0020c0079 a0020c0084 a0028c0033 a0029c0032 a0030c0034 a0062c0082 a0063c0081 a0064c0080 a0065c0078 a0066c0083 a0067c0086 a0068c0087	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 others(18): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0085t0001 a0001c0089t0001 a0013c0013t0001 a0013c0013t0028 a0020c0052t0003 a0020c0079t0003 a0020c0084t0003 a0028c0033t0001 a0029c0032t0001 a0030c0034t0002 a0062c0082t0005 a0063c0081t0001 a0064c0080t0001 a0065c0078t0004 a0066c0083t0001 a0067c0086t0025 a0068c0087t0031	a0001c0002t0001g0110 a0001c0002t0001g0142 a0001c0002t0001g0145 others(58): Show a0001c0002t0001g0110 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0199 a0001c0003t0001g0077 a0001c0003t0001g0114 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0156 a0001c0003t0001g0174 a0001c0003t0001g0197 a0001c0003t0003g0115 a0001c0003t0004g0117 a0001c0003t0004g0134 a0001c0085t0001g0152 a0001c0089t0001g0037 a0013c0013t0001g0032 a0013c0013t0001g0033 a0013c0013t0001g0116 a0013c0013t0028g0198 a0020c0052t0003g0292 a0020c0079t0003g0186 a0020c0084t0003g0093 a0028c0033t0001g0120 a0028c0033t0001g0132 a0029c0032t0001g0111 a0029c0032t0001g0138 a0030c0034t0002g0221 a0030c0034t0002g0278 a0062c0082t0005g0083 a0063c0081t0001g0133 a0064c0080t0001g0183 a0065c0078t0004g0185 a0066c0083t0001g0119 a0067c0086t0025g0113 a0068c0087t0031g0101	61	294	0.2075	-6	c.105 others(13): Show c.105_110delGCAGCA	p.Gln others(11): Show p.Gln36_Gln37del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	250/13472	105/9429	35/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074876	CCAGCAGC others(2): Show CCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG02071.hp2 HG02145.hp1 others(16): Show HG00735.hp2 HG02071.hp2 HG02145.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA18983.hp2 NA18991.hp1 NA19064.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2	a0004 a0019 a0027 others(1): Show a0004 a0019 a0027 a0054	a0004c0005 a0004c0011 a0004c0066 others(4): Show a0004c0005 a0004c0011 a0004c0066 a0004c0067 a0019c0020 a0027c0027 a0054c0068	a0004c0005t0001 a0004c0011t0001 a0004c0066t0001 others(5): Show a0004c0005t0001 a0004c0011t0001 a0004c0066t0001 a0004c0067t0001 a0019c0020t0007 a0019c0020t0023 a0027c0027t0001 a0054c0068t0034	a0004c0005t0001g0001 a0004c0005t0001g0049 a0004c0005t0001g0050 others(15): Show a0004c0005t0001g0001 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0011t0001g0153 a0004c0011t0001g0160 a0004c0011t0001g0161 a0004c0011t0001g0165 a0004c0066t0001g0159 a0004c0067t0001g0118 a0019c0020t0007g0088 a0019c0020t0007g0102 a0019c0020t0023g0100 a0027c0027t0001g0035 a0027c0027t0001g0058 a0054c0068t0034g0090	19	294	0.0646	-9	c.102 others(16): Show c.102_110delGCAGCAGCA	p.Gln others(11): Show p.Gln35_Gln37del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	247/13472	102/9429	34/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074876	CCAGCAGC others(5): Show CCAGCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp1 HG01257.hp1 HG01258.hp1 others(8): Show HG01074.hp1 HG01257.hp1 HG01258.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG02148.hp1 HG02630.hp2 HG03669.hp2 NA20805.hp1 NA21309.hp1	a0009 a0025 a0043 others(1): Show a0009 a0025 a0043 a0044	a0009c0008 a0009c0059 a0025c0025 others(2): Show a0009c0008 a0009c0059 a0025c0025 a0043c0050 a0044c0060	a0009c0008t0001 a0009c0059t0001 a0025c0025t0002 others(2): Show a0009c0008t0001 a0009c0059t0001 a0025c0025t0002 a0043c0050t0010 a0044c0060t0001	a0009c0008t0001g0105 a0009c0008t0001g0157 a0009c0008t0001g0167 others(8): Show a0009c0008t0001g0105 a0009c0008t0001g0157 a0009c0008t0001g0167 a0009c0008t0001g0168 a0009c0008t0001g0179 a0009c0008t0001g0180 a0009c0059t0001g0054 a0025c0025t0002g0187 a0025c0025t0002g0188 a0043c0050t0010g0012 a0044c0060t0001g0059	11	294	0.0374	-12	c.99_ others(18): Show c.99_110delGCAGCAGCAGCA	p.Gln others(11): Show p.Gln34_Gln37del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	244/13472	99/9429	33/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074876	CCAGCAGC others(8): Show CCAGCAGCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG01891.hp1	a0045 a0045	a0045c0051 a0045c0051	a0045c0051t0001 a0045c0051t0001	a0045c0051t0001g0048 a0045c0051t0001g0048	1	294	0.0034	-15	c.96_ others(21): Show c.96_110delGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln33_Gln37del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	241/13472	96/9429	32/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074876	CCAGCAGC others(11): Show CCAGCAGCAGCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG00639.hp1 HG02280.hp1 others(1): Show HG00323.hp2 HG00639.hp1 HG02280.hp1 HG03239.hp1	a0024 a0041 a0042 a0024 a0041 a0042	a0024c0046 a0024c0047 a0041c0049 others(1): Show a0024c0046 a0024c0047 a0041c0049 a0042c0048	a0024c0046t0008 a0024c0047t0008 a0041c0049t0001 others(1): Show a0024c0046t0008 a0024c0047t0008 a0041c0049t0001 a0042c0048t0008	a0024c0046t0008g0257 a0024c0047t0008g0258 a0041c0049t0001g0010 others(1): Show a0024c0046t0008g0257 a0024c0047t0008g0258 a0041c0049t0001g0010 a0042c0048t0008g0259	4	294	0.0136	-18	c.93_ others(24): Show c.93_110delGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln32_Gln37del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	238/13472	93/9429	31/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074945	ACCG ACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02145.hp1 HG03139.hp2 others(2): Show HG01884.hp1 HG02145.hp1 HG03139.hp2 HG06807.hp2 NA19240.hp2	a0019 a0054 a0068 a0019 a0054 a0068	a0019c0020 a0054c0068 a0068c0087 a0019c0020 a0054c0068 a0068c0087	a0019c0020t0007 a0019c0020t0023 a0054c0068t0034 others(1): Show a0019c0020t0007 a0019c0020t0023 a0054c0068t0034 a0068c0087t0031	a0019c0020t0007g0088 a0019c0020t0007g0102 a0019c0020t0023g0100 others(2): Show a0019c0020t0007g0088 a0019c0020t0007g0102 a0019c0020t0023g0100 a0054c0068t0034g0090 a0068c0087t0031g0101	5	294	0.0170	-3	c.141 others(10): Show c.141_143delGCC	p.Pro others(5): Show p.Pro48del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	286/13472	141/9429	47/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3075022	AGCCGCCC others(5): Show AGCCGCCCCCGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02080.hp1 HG02970.hp2 HG03453.hp1 HG02080.hp1 HG02970.hp2 HG03453.hp1	a0027 a0055 a0027 a0055	a0027c0027 a0055c0069 a0027c0027 a0055c0069	a0027c0027t0001 a0055c0069t0001 a0027c0027t0001 a0055c0069t0001	a0027c0027t0001g0035 a0027c0027t0001g0058 a0055c0069t0001g0271 a0027c0027t0001g0035 a0027c0027t0001g0058 a0055c0069t0001g0271	3	294	0.0102	-12	c.213 others(19): Show c.213_224delGCCCCCGCCGCC	p.Pro others(11): Show p.Pro72_Pro75del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	358/13472	213/9429	71/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1B_chr6_650939_662100	656300	CACAGCCG others(17): Show CACAGCCGACTGGGGAGGGTTTCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03471.hp1 HG03471.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0000 a0012c0012t0001g0000	1	432	0.0023	-24	c.621 others(31): Show c.621_644delTGGAAACCCTCCCCAGTCGGCTGT	p.Gly others(13): Show p.Gly208_Val215del	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding	1/1	800/1162	621/837	207/278		chr6	TogoVar
HYAL1_chr3_50294893_50308574	50302778	GCTACCAC others(26): Show GCTACCACATCGAAGACACTGACATCCACGTCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18747.hp1 NA18747.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0033 a0008c0008t0002g0033	1	384	0.0026	-33	c.146 others(40): Show c.146_178delTGGACGTGGATGTCAGTGTCTTCGATGTGGTAG	p.Val others(11): Show p.Val49_Val59del	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding	2/4	311/2031	146/1308	49/435		chr3	TogoVar
HYI_chr1_43445989_43458931	43451405	CTCACCTC others(6): Show CTCACCTCGAGGCT	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18951.hp2 NA18997.hp1 NA18951.hp2 NA18997.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0017 a0006c0008t0001g0017	2	422	0.0047	-13	c.752 others(22): Show c.752_760+4delAGCCTCGAGGTGA	p.Gln others(19): Show p.Gln251_Gly254delinsArg	HYI	ENSG00000178922.18	transcript	ENST00000372430.9	protein_coding	7/8		752/834	251/277		chr1	TogoVar
IER5L_chr9_129170552_129183261	129177693	CAGCTGGT others(2): Show CAGCTGGTGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02055.hp1 HG02055.hp2 others(3): Show HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02735.hp1 HG02965.hp2 NA19088.hp1	a0003 a0006 a0003 a0006	a0003c0006 a0003c0007 a0006c0012 a0003c0006 a0003c0007 a0006c0012	a0003c0006t0001 a0003c0007t0001 a0006c0012t0002 a0003c0006t0001 a0003c0007t0001 a0006c0012t0002	a0003c0006t0001g0000 a0003c0007t0001g0000 a0006c0012t0002g0000 a0003c0006t0001g0000 a0003c0007t0001g0000 a0006c0012t0002g0000	6	426	0.0141	-9	c.351 others(16): Show c.351_359delCCACCAGCT	p.His others(13): Show p.His118_Leu120del	IER5L	ENSG00000188483.8	transcript	ENST00000372491.4	protein_coding	1/1	568/2710	351/1215	117/404		chr9	TogoVar
IFI27_chr14_94105736_94121690	94115784	TGGCCATG others(2): Show TGGCCATGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(147): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 others(19): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0001g0082 a0002c0002t0001g0084	150	467	0.3212	-9	c.129 others(16): Show c.129_137delCATGGCGGC	p.Met others(11): Show p.Met44_Ala46del	IFI27	ENSG00000165949.13	transcript	ENST00000621160.5	protein_coding	4/5	249/652	129/369	43/122	INFO_REALIGN_3_PRIME	chr14	TogoVar
IFI44L_chr1_78615448_78651145	78641091	CATGAGTA others(5): Show CATGAGTAGATCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp1 HG03579.hp1 HG02630.hp1 HG03579.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0104 a0008c0008t0105 a0008c0008t0104 a0008c0008t0105	a0008c0008t0104g0039 a0008c0008t0105g0039 a0008c0008t0104g0039 a0008c0008t0105g0039	2	430	0.0047	-12	c.112 others(21): Show c.1124_1135delGTAGATCTATGA	p.Ser others(13): Show p.Ser375_Met378del	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	7/9	1258/5829	1124/1359	375/452	INFO_REALIGN_3_PRIME	chr1	TogoVar
IFNGR2_chr21_33398413_33442516	33403590	TCGCCGCC others(5): Show TCGCCGCCGCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19030.hp1 NA19030.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0236 a0011c0014t0001g0236	1	386	0.0026	-12	c.51_ others(17): Show c.51_62delCGCCGCCGCCGC	p.Ala others(11): Show p.Ala18_Ala21del	IFNGR2	ENSG00000159128.16	transcript	ENST00000290219.11	protein_coding	1/7	182/1699	51/1014	17/337	INFO_REALIGN_3_PRIME	chr21	TogoVar
IFT46_chr11_118539543_118570931	118557032	GTCT GTCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01109.hp2 HG02451.hp1 others(2): Show HG01074.hp2 HG01109.hp2 HG02451.hp1 HG02895.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0201 a0003c0003t0001g0214 a0003c0003t0003g0032 others(1): Show a0003c0003t0001g0201 a0003c0003t0001g0214 a0003c0003t0003g0032 a0003c0003t0003g0215	5	380	0.0132	-3	c.56_ others(8): Show c.56_58delAGA	p.Lys others(5): Show p.Lys19del	IFT46	ENSG00000118096.10	transcript	ENST00000264021.8	protein_coding	4/12	332/1562	56/915	19/304		chr11	TogoVar
IGFL4_chr19_46034182_46046002	46040269	TGGAAGCA others(5): Show TGGAAGCAGGGCC	T T	stop_gained others(1): Show stop_gained disruptive_inframe_deletion	HIGH	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0018 a0004c0006t0001g0018	1	454	0.0022	-12	c.206 others(19): Show c.206_217delGGCCCTGCTTCC	p.Trp others(17): Show p.Trp69_Gln73delinsTer	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding	3/4	257/1125	206/375	69/124		chr19	TogoVar
IL21R_chr16_27397174_27457042	27448643	CCAAGAGG others(137): Show CCAAGAGGCTGCAGCTCACGGAGCTACAAGAACCAGCAGAGCTGGTGGAG TCTGACGGTGTGCCCAAGCCCAGCTTCTGGCCGACAGCCCAGAACTCGGG GGGCTCAGCTTACAGTGAGGAGAGGGATCGGCCATACGGCCTGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0007 a0005c0010t0007	a0005c0010t0007g0230 a0005c0010t0007g0230	1	372	0.0027	-144	c.978 others(8): Show c.978_1121del	p.Lys others(13): Show p.Lys327_Val374del	IL21R	ENSG00000103522.17	transcript	ENST00000337929.8	protein_coding	9/9	1439/4837	978/1617	326/538		chr16	TogoVar
IL9R_chrX_155992696_156015817	156010133	GAGC GAGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp1 HG02280.hp2 HG02630.hp2 others(8): Show HG02257.hp1 HG02280.hp2 HG02630.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03486.hp1 HG06807.hp2 NA19030.hp2 NA20129.hp1	a0003 a0019 a0003 a0019	a0003c0005 a0003c0007 a0003c0016 others(1): Show a0003c0005 a0003c0007 a0003c0016 a0019c0027	a0003c0005t0001 a0003c0007t0001 a0003c0016t0001 others(1): Show a0003c0005t0001 a0003c0007t0001 a0003c0016t0001 a0019c0027t0001	a0003c0005t0001g0026 a0003c0005t0001g0102 a0003c0005t0001g0107 others(4): Show a0003c0005t0001g0026 a0003c0005t0001g0102 a0003c0005t0001g0107 a0003c0005t0001g0117 a0003c0007t0001g0008 a0003c0016t0001g0084 a0019c0027t0001g0079	11	220	0.0500	-3	c.131 others(12): Show c.1313_1315delGCA	p.Ser others(6): Show p.Ser438del	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1377/2038	1313/1566	438/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
INAFM1_chr19_47269885_47280723	47274946	CGGCGCCG others(11): Show CGGCGCCGAGAGCCCCGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0000 a0010c0011t0002g0000	1	394	0.0025	-18	c.33_ others(23): Show c.33_50delCGAGAGCCCCGGAGGCGC	p.Glu others(11): Show p.Glu12_Ala17del	INAFM1	ENSG00000257704.4	transcript	ENST00000552360.4	protein_coding	1/1	68/839	33/429	11/142	INFO_REALIGN_3_PRIME	chr19	TogoVar
INCENP_chr11_62119011_62158169	62146762	GGAGCAGG others(23): Show GGAGCAGGAGCGGCGGGAGCAGGAGCGGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0020 a0014c0017t0001g0020	2	358	0.0056	-30	c.207 others(39): Show c.2079_2108delGGAGCAGGAGCGGCGCGAGCAGGAGCGGCG	p.Glu others(13): Show p.Glu694_Arg703del	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2243/4114	2079/2757	693/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62146777	GGAGCAGG others(8): Show GGAGCAGGAGCGGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG03098.hp2 HG00099.hp2 HG03098.hp2	a0015 a0015	a0015c0028 a0015c0033 a0015c0028 a0015c0033	a0015c0028t0001 a0015c0033t0001 a0015c0028t0001 a0015c0033t0001	a0015c0028t0001g0150 a0015c0033t0001g0044 a0015c0028t0001g0150 a0015c0033t0001g0044	2	358	0.0056	-15	c.210 others(24): Show c.2109_2123delCGAGCAGGAGCGGCG	p.Glu others(13): Show p.Glu704_Arg708del	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2273/4114	2109/2757	703/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62146777	GGAGCAGG others(23): Show GGAGCAGGAGCGGCGCGAGCAGGAGCGGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03098.hp1 HG03098.hp1	a0027 a0027	a0027c0038 a0027c0038	a0027c0038t0001 a0027c0038t0001	a0027c0038t0001g0111 a0027c0038t0001g0111	1	358	0.0028	-30	c.209 others(39): Show c.2094_2123delCGAGCAGGAGCGGCGCGAGCAGGAGCGGCG	p.Glu others(13): Show p.Glu699_Arg708del	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2258/4114	2094/2757	698/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INF2_chr14_104684618_104727535	104707525	ACCCCAC ACCCCAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG01099.hp2 HG01243.hp2 others(16): Show HG00735.hp2 HG01099.hp2 HG01243.hp2 HG01884.hp1 HG01934.hp1 HG02074.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03540.hp2 NA18522.hp1 NA18949.hp1 NA20752.hp2 NA20905.hp1	a0003 a0004 a0016 others(1): Show a0003 a0004 a0016 a0017	a0003c0010 a0003c0019 a0003c0043 others(4): Show a0003c0010 a0003c0019 a0003c0043 a0003c0044 a0004c0006 a0016c0042 a0017c0045	a0003c0010t0018 a0003c0010t0067 a0003c0010t0068 others(11): Show a0003c0010t0018 a0003c0010t0067 a0003c0010t0068 a0003c0019t0021 a0003c0019t0022 a0003c0043t0025 a0003c0044t0053 a0004c0006t0032 a0004c0006t0041 a0004c0006t0054 a0004c0006t0055 a0004c0006t0056 a0016c0042t0022 a0017c0045t0018	a0003c0010t0018g0053 a0003c0010t0018g0054 a0003c0010t0018g0242 others(15): Show a0003c0010t0018g0053 a0003c0010t0018g0054 a0003c0010t0018g0242 a0003c0010t0067g0243 a0003c0010t0068g0053 a0003c0019t0021g0026 a0003c0019t0022g0095 a0003c0043t0025g0100 a0003c0044t0053g0099 a0004c0006t0032g0098 a0004c0006t0032g0101 a0004c0006t0041g0072 a0004c0006t0041g0108 a0004c0006t0054g0096 a0004c0006t0055g0027 a0004c0006t0056g0027 a0016c0042t0022g0097 a0017c0045t0018g0054	19	380	0.0500	-6	c.128 others(15): Show c.1280_1285delCACCCC	p.Pro others(13): Show p.Pro427_Pro428del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	8/23	1411/7623	1280/3750	427/1249	INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104707525	ACCCCACC others(5): Show ACCCCACCCCCAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(31): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00673.hp2 HG01106.hp2 HG01109.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG02083.hp2 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18967.hp2 NA18970.hp1 NA18981.hp1 NA18985.hp1 NA19000.hp2 NA19030.hp2 NA19065.hp1 NA20752.hp1	a0002 a0015 a0025 a0002 a0015 a0025	a0002c0003 a0002c0013 a0002c0046 others(3): Show a0002c0003 a0002c0013 a0002c0046 a0002c0047 a0015c0048 a0025c0049	a0002c0003t0006 a0002c0003t0009 a0002c0003t0010 others(11): Show a0002c0003t0006 a0002c0003t0009 a0002c0003t0010 a0002c0003t0031 a0002c0003t0039 a0002c0003t0048 a0002c0003t0049 a0002c0003t0052 a0002c0003t0071 a0002c0013t0016 a0002c0046t0001 a0002c0047t0003 a0015c0048t0050 a0025c0049t0009	a0002c0003t0006g0007 a0002c0003t0006g0051 a0002c0003t0006g0052 others(23): Show a0002c0003t0006g0007 a0002c0003t0006g0051 a0002c0003t0006g0052 a0002c0003t0006g0232 a0002c0003t0006g0233 a0002c0003t0006g0236 a0002c0003t0006g0237 a0002c0003t0006g0238 a0002c0003t0009g0025 a0002c0003t0009g0057 a0002c0003t0010g0007 a0002c0003t0010g0012 a0002c0003t0031g0007 a0002c0003t0031g0234 a0002c0003t0039g0030 a0002c0003t0048g0007 a0002c0003t0049g0229 a0002c0003t0052g0241 a0002c0003t0071g0012 a0002c0013t0016g0042 a0002c0013t0016g0182 a0002c0013t0016g0184 a0002c0046t0001g0183 a0002c0047t0003g0079 a0015c0048t0050g0244 a0025c0049t0009g0125	34	380	0.0895	-12	c.127 others(21): Show c.1274_1285delCACCCCCACCCC	p.Pro others(13): Show p.Pro425_Pro428del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	8/23	1405/7623	1274/3750	425/1249	INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104707547	CACCCCT CACCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02109.hp1 HG03139.hp2 others(1): Show HG02055.hp1 HG02109.hp1 HG03139.hp2 NA18906.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0028 a0007c0012t0001 a0007c0012t0028	a0007c0012t0001g0127 a0007c0012t0028g0031 a0007c0012t0028g0129 a0007c0012t0001g0127 a0007c0012t0028g0031 a0007c0012t0028g0129	4	380	0.0105	-6	c.128 others(15): Show c.1281_1286delACCCCT	p.Pro others(13): Show p.Pro428_Leu429del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	8/23	1412/7623	1281/3750	427/1249		chr14	TogoVar
INTS1_chr7_1465277_1509389	1497225	CTGCTTGA others(38): Show CTGCTTGATGATCTCCCGCAGCAGGGCCCGCGAGGCCCGCAGGTAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0004 a0006c0032t0004	a0006c0032t0004g0205 a0006c0032t0004g0205	1	316	0.0032	-45	c.147 others(54): Show c.1470_1514delCTACCTGCGGGCCTCGCGGGCCCTGCTGCGGGAGAT CATCAAGCA	p.Asp others(19): Show p.Asp490_Gln505delinsGlu	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	11/48	1622/6981	1470/6573	490/2190		chr7	TogoVar
IQCE_chr7_2553979_2619728	2605877	GCTCTCCT others(56): Show GCTCTCCTGTGCCCCGCGTTCCGAGCCCCATCGCCCAGGCCACGGGCAGC CCTGTGCAGGAGGA	G G	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0023 a0023	a0023c0043 a0023c0043	a0023c0043t0018 a0023c0043t0018	a0023c0043t0018g0147 a0023c0043t0018g0147	1	416	0.0024	-63	c.174 others(72): Show c.1746_1808delCTCTCCTGTGCCCCGCGTTCCGAGCCCCATCGCCCA GGCCACGGGCAGCCCTGTGCAGGAGGA	p.Ser others(19): Show p.Ser582_Glu603delinsArg	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	20/22	1949/6857	1746/2088	582/695		chr7	TogoVar
IRF2BPL_chr14_77019543_77033708	77027304	AGCG AGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00558.hp2 HG01081.hp1 others(16): Show HG00140.hp2 HG00558.hp2 HG01081.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03669.hp1 NA18975.hp1 NA19000.hp1 NA19082.hp2 NA20905.hp1 NA21309.hp1	a0004 a0008 a0013 a0004 a0008 a0013	a0004c0005 a0008c0012 a0013c0026 a0004c0005 a0008c0012 a0013c0026	a0004c0005t0016 a0004c0005t0017 a0004c0005t0029 others(6): Show a0004c0005t0016 a0004c0005t0017 a0004c0005t0029 a0004c0005t0046 a0004c0005t0057 a0004c0005t0087 a0008c0012t0029 a0008c0012t0045 a0013c0026t0029	a0004c0005t0016g0000 a0004c0005t0017g0000 a0004c0005t0029g0000 others(6): Show a0004c0005t0016g0000 a0004c0005t0017g0000 a0004c0005t0029g0000 a0004c0005t0046g0000 a0004c0005t0057g0000 a0004c0005t0087g0000 a0008c0012t0029g0000 a0008c0012t0045g0000 a0013c0026t0029g0000	19	414	0.0459	-3	c.486 others(10): Show c.486_488delCGC	p.Ala others(6): Show p.Ala163del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1404/4166	486/2391	162/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027304	AGCGGCGG others(2): Show AGCGGCGGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02486.hp1 HG03486.hp1 HG02258.hp1 HG02486.hp1 HG03486.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0019 a0007c0010t0066 a0007c0010t0019 a0007c0010t0066	a0007c0010t0019g0000 a0007c0010t0066g0000 a0007c0010t0019g0000 a0007c0010t0066g0000	3	414	0.0073	-9	c.480 others(16): Show c.480_488delCGCCGCCGC	p.Ala others(13): Show p.Ala161_Ala163del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1404/4166	480/2391	160/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027418	TTGC TTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp1 HG02602.hp2 HG02615.hp1 others(6): Show HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG03195.hp2 HG03491.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0015 a0001c0006 a0001c0015	a0001c0006t0015 a0001c0006t0021 a0001c0006t0060 others(3): Show a0001c0006t0015 a0001c0006t0021 a0001c0006t0060 a0001c0006t0079 a0001c0006t0084 a0001c0015t0085	a0001c0006t0015g0000 a0001c0006t0021g0000 a0001c0006t0060g0000 others(3): Show a0001c0006t0015g0000 a0001c0006t0021g0000 a0001c0006t0060g0000 a0001c0006t0079g0000 a0001c0006t0084g0000 a0001c0015t0085g0000	9	414	0.0217	-3	c.372 others(10): Show c.372_374delGCA	p.Gln others(6): Show p.Gln125del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1290/4166	372/2391	124/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027418	TTGCTGC TTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0004 a0006 others(4): Show a0002 a0004 a0006 a0007 a0009 a0010 a0017	a0002c0002 a0002c0003 a0002c0009 others(9): Show a0002c0002 a0002c0003 a0002c0009 a0002c0017 a0002c0018 a0002c0020 a0004c0005 a0006c0011 a0007c0010 a0009c0027 a0010c0019 a0017c0039	a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 others(64): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0014 a0002c0002t0015 a0002c0002t0019 a0002c0002t0020 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0002t0028 a0002c0002t0032 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0038 a0002c0002t0041 a0002c0002t0042 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0072 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0078 a0002c0002t0081 a0002c0003t0002 a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 a0002c0003t0011 a0002c0003t0014 a0002c0003t0027 a0002c0003t0039 a0002c0003t0040 a0002c0003t0044 a0002c0009t0043 a0002c0009t0062 a0002c0017t0014 a0002c0018t0038 a0002c0020t0010 a0004c0005t0016 a0004c0005t0017 a0004c0005t0029 a0004c0005t0046 a0004c0005t0057 a0004c0005t0087 a0006c0011t0003 a0007c0010t0019 a0007c0010t0066 a0009c0027t0014 a0010c0019t0086 a0017c0039t0003	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0011g0000 others(64): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0011g0000 a0002c0002t0014g0000 a0002c0002t0015g0000 a0002c0002t0019g0000 a0002c0002t0020g0000 a0002c0002t0023g0000 a0002c0002t0024g0000 a0002c0002t0025g0000 a0002c0002t0027g0000 a0002c0002t0028g0000 a0002c0002t0032g0000 a0002c0002t0033g0000 a0002c0002t0034g0000 a0002c0002t0035g0000 a0002c0002t0036g0000 a0002c0002t0038g0000 a0002c0002t0041g0000 a0002c0002t0042g0000 a0002c0002t0051g0000 a0002c0002t0052g0000 a0002c0002t0053g0000 a0002c0002t0054g0000 a0002c0002t0055g0000 a0002c0002t0056g0000 a0002c0002t0063g0000 a0002c0002t0064g0000 a0002c0002t0065g0000 a0002c0002t0067g0000 a0002c0002t0068g0000 a0002c0002t0069g0000 a0002c0002t0070g0000 a0002c0002t0071g0000 a0002c0002t0072g0000 a0002c0002t0073g0000 a0002c0002t0074g0000 a0002c0002t0075g0000 a0002c0002t0078g0000 a0002c0002t0081g0000 a0002c0003t0002g0000 a0002c0003t0003g0000 a0002c0003t0009g0000 a0002c0003t0010g0000 a0002c0003t0011g0000 a0002c0003t0014g0000 a0002c0003t0027g0000 a0002c0003t0039g0000 a0002c0003t0040g0000 a0002c0003t0044g0000 a0002c0009t0043g0000 a0002c0009t0062g0000 a0002c0017t0014g0000 a0002c0018t0038g0000 a0002c0020t0010g0000 a0004c0005t0016g0000 a0004c0005t0017g0000 a0004c0005t0029g0000 a0004c0005t0046g0000 a0004c0005t0057g0000 a0004c0005t0087g0000 a0006c0011t0003g0000 a0007c0010t0019g0000 a0007c0010t0066g0000 a0009c0027t0014g0000 a0010c0019t0086g0000 a0017c0039t0003g0000	175	414	0.4227	-6	c.369 others(13): Show c.369_374delGCAGCA	p.Gln others(13): Show p.Gln124_Gln125del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1290/4166	369/2391	123/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027439	CTGCTGCT others(5): Show CTGCTGCTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02451.hp2 HG02615.hp2 others(6): Show HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02886.hp2 HG03139.hp2 HG03486.hp2 HG03579.hp2 NA18961.hp2 NA19007.hp1	a0005 a0005	a0005c0007 a0005c0013 a0005c0007 a0005c0013	a0005c0007t0026 a0005c0007t0037 a0005c0007t0058 others(2): Show a0005c0007t0026 a0005c0007t0037 a0005c0007t0058 a0005c0007t0059 a0005c0013t0001	a0005c0007t0026g0000 a0005c0007t0037g0000 a0005c0007t0058g0000 others(2): Show a0005c0007t0026g0000 a0005c0007t0037g0000 a0005c0007t0058g0000 a0005c0007t0059g0000 a0005c0013t0001g0000	9	414	0.0217	-12	c.342 others(19): Show c.342_353delACAGCAGCAGCA	p.Gln others(13): Show p.Gln115_Gln118del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1269/4166	342/2391	114/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027445	CTGCTGT CTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 HG02074.hp1 NA18942.hp2 others(4): Show HG02015.hp2 HG02074.hp1 NA18942.hp2 NA18951.hp1 NA18975.hp2 NA18992.hp1 NA19010.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0027 a0002c0008t0003 a0002c0008t0027	a0002c0008t0003g0000 a0002c0008t0027g0000 a0002c0008t0003g0000 a0002c0008t0027g0000	7	414	0.0169	-6	c.342 others(13): Show c.342_347delACAGCA	p.Gln others(13): Show p.Gln115_Gln116del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1263/4166	342/2391	114/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027448	CTGT CTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(157): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0011 others(3): Show a0001 a0008 a0011 a0012 a0015 a0016	a0001c0001 a0001c0014 a0001c0024 others(9): Show a0001c0001 a0001c0014 a0001c0024 a0001c0029 a0001c0031 a0001c0034 a0001c0038 a0008c0012 a0011c0028 a0012c0030 a0015c0036 a0016c0037	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0014t0001 a0001c0024t0003 a0001c0029t0013 a0001c0031t0004 a0001c0034t0004 a0001c0038t0018 a0008c0012t0029 a0008c0012t0045 a0011c0028t0007 a0012c0030t0001 a0015c0036t0005 a0016c0037t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(30): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 a0001c0001t0013g0000 a0001c0001t0018g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0047g0000 a0001c0001t0048g0000 a0001c0001t0049g0000 a0001c0001t0050g0000 a0001c0001t0091g0000 a0001c0001t0092g0000 a0001c0001t0093g0000 a0001c0001t0094g0000 a0001c0001t0095g0000 a0001c0001t0096g0000 a0001c0001t0097g0000 a0001c0001t0098g0000 a0001c0001t0099g0000 a0001c0014t0001g0000 a0001c0024t0003g0000 a0001c0029t0013g0000 a0001c0031t0004g0000 a0001c0034t0004g0000 a0001c0038t0018g0000 a0008c0012t0029g0000 a0008c0012t0045g0000 a0011c0028t0007g0000 a0012c0030t0001g0000 a0015c0036t0005g0000 a0016c0037t0001g0000	160	414	0.3865	-3	c.342 others(10): Show c.342_344delACA	p.Gln others(6): Show p.Gln115del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1260/4166	342/2391	114/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027466	CTGCTGTT others(5): Show CTGCTGTTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0014 a0009c0027t0014	a0009c0027t0014g0000 a0009c0027t0014g0000	1	414	0.0024	-12	c.315 others(19): Show c.315_326delACAGCAACAGCA	p.Gln others(13): Show p.Gln106_Gln109del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1242/4166	315/2391	105/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027502	GGCCGCCG others(5): Show GGCCGCCGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03831.hp1 HG03831.hp1	a0015 a0015	a0015c0036 a0015c0036	a0015c0036t0005 a0015c0036t0005	a0015c0036t0005g0000 a0015c0036t0005g0000	1	414	0.0024	-12	c.279 others(19): Show c.279_290delAGCAGCGGCGGC	p.Ala others(11): Show p.Ala94_Ala97del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1206/4166	279/2391	93/796		chr14	TogoVar
IRF5_chr7_128932927_128955038	128947297	CACTCTGC others(23): Show CACTCTGCAGCCGCCCACTCTGCGGCCGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(204): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0012t0001 a0003c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(106): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0002g0024 a0001c0001t0002g0116 a0001c0001t0004g0037 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0010g0025 a0001c0001t0011g0184 a0001c0001t0012g0127 a0001c0001t0013g0187 a0001c0001t0017g0183 a0001c0003t0004g0188 a0001c0003t0004g0190 a0001c0004t0001g0035 a0001c0004t0001g0122 a0001c0005t0001g0051 a0001c0007t0001g0141 a0001c0012t0001g0144 a0003c0008t0001g0036	207	404	0.5124	-30	c.572 others(37): Show c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC	p.Arg others(13): Show p.Arg191_Leu200del	IRF5	ENSG00000128604.21	transcript	ENST00000357234.10	protein_coding	6/9	706/2899	572/1545	191/514	INFO_REALIGN_3_PRIME	chr7	TogoVar
IST1_chr16_71890531_71936199	71922608	AATGCCC AATGCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(118): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01884.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA19003.hp1 NA19007.hp1 NA19011.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0003 a0002c0005 others(1): Show a0002c0002 a0002c0003 a0002c0005 a0004c0006	a0002c0002t0002 a0002c0002t0016 a0002c0002t0017 others(16): Show a0002c0002t0002 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0031 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0020 a0002c0003t0028 a0002c0003t0029 a0002c0005t0002 a0004c0006t0007 a0004c0006t0021	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0009 others(100): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0022 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0281 a0002c0002t0016g0139 a0002c0002t0017g0003 a0002c0002t0018g0104 a0002c0002t0031g0018 a0002c0003t0001g0044 a0002c0003t0001g0192 a0002c0003t0001g0217 a0002c0003t0001g0219 a0002c0003t0001g0230 a0002c0003t0001g0235 a0002c0003t0001g0252 a0002c0003t0001g0256 a0002c0003t0001g0260 a0002c0003t0001g0263 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0002g0146 a0002c0003t0003g0016 a0002c0003t0003g0093 a0002c0003t0003g0095 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0099 a0002c0003t0004g0054 a0002c0003t0005g0153 a0002c0003t0007g0008 a0002c0003t0007g0079 a0002c0003t0007g0080 a0002c0003t0007g0081 a0002c0003t0007g0083 a0002c0003t0007g0180 a0002c0003t0008g0225 a0002c0003t0010g0020 a0002c0003t0020g0063 a0002c0003t0028g0030 a0002c0003t0029g0082 a0002c0005t0002g0017 a0002c0005t0002g0101 a0002c0005t0002g0102 a0002c0005t0002g0112 a0004c0006t0007g0008 a0004c0006t0021g0078	121	352	0.3438	-6	c.705 others(13): Show c.705_710delCATGCC	p.Met others(13): Show p.Met236_Pro237del	IST1	ENSG00000182149.21	transcript	ENST00000378799.11	protein_coding	7/10	779/4561	705/1101	235/366	INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB5_chr3_124756948_124892365	124763647	TTTGTTGA others(2): Show TTTGTTGAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00733.hp2 HG00741.hp2 HG01069.hp1 others(27): Show HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01361.hp2 HG01515.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG02080.hp2 HG02602.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG04228.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18979.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19009.hp1 NA19068.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0008	a0003c0004 a0003c0025 a0005c0010 others(2): Show a0003c0004 a0003c0025 a0005c0010 a0007c0024 a0008c0018	a0003c0004t0004 a0003c0004t0010 a0003c0025t0004 others(3): Show a0003c0004t0004 a0003c0004t0010 a0003c0025t0004 a0005c0010t0004 a0007c0024t0004 a0008c0018t0001	a0003c0004t0004g0017 a0003c0004t0004g0018 a0003c0004t0004g0022 others(27): Show a0003c0004t0004g0017 a0003c0004t0004g0018 a0003c0004t0004g0022 a0003c0004t0004g0024 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0027 a0003c0004t0004g0031 a0003c0004t0004g0032 a0003c0004t0004g0033 a0003c0004t0004g0034 a0003c0004t0004g0035 a0003c0004t0004g0037 a0003c0004t0004g0039 a0003c0004t0004g0045 a0003c0004t0004g0046 a0003c0004t0004g0048 a0003c0004t0004g0049 a0003c0004t0004g0050 a0003c0004t0004g0058 a0003c0004t0004g0059 a0003c0004t0004g0061 a0003c0004t0004g0256 a0003c0004t0004g0338 a0003c0004t0010g0042 a0003c0025t0004g0016 a0005c0010t0004g0349 a0005c0010t0004g0350 a0007c0024t0004g0020 a0008c0018t0001g0185	30	352	0.0852	-9	c.236 others(18): Show c.2367_2375delGTTCAACAA	p.Phe others(13): Show p.Phe790_Lys792del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	15/15	2740/4440	2367/2400	789/799		chr3	TogoVar

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