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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RALYL_chr8_84178274_84926844	84310752	TAAAATGT others(328): Show TAAAATGTATATTAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCGT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03098.hp1 others(3): Show HG01884.hp1 HG02055.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0013 a0001c0001t0002g0032 a0001c0001t0004g0016 others(3): Show a0001c0001t0001g0013 a0001c0001t0002g0032 a0001c0001t0004g0016 a0001c0001t0004g0026 a0001c0001t0016g0002 a0001c0001t0017g0027	6	82	0.0732	-335	c.-24 others(21): Show c.-24+126342_-24+126676del	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	253914	CGGCGTCT others(328): Show CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTT CCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTT CCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATAT GACTACCCTACGTACTTCCTATGAGGGGAGCCGCAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	133	0.0075	-335	c.439 others(17): Show c.439-6964_439-6630del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254044	CGCATGGC others(328): Show CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	133	0.0075	-335	c.439 others(17): Show c.439-7094_439-6760del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254999	TTTCCATC others(328): Show TTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC TGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0058 a0001c0001t0037g0058	1	133	0.0075	-335	c.439 others(17): Show c.439-8049_439-7715del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255116	CGCATGGC others(328): Show CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	133	0.0075	-335	c.439 others(17): Show c.439-8166_439-7832del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255417	CGTGACTA others(328): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TGTTCCATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0093 a0001c0001t0016g0093	1	133	0.0075	-335	c.439 others(17): Show c.439-8467_439-8133del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255659	CGTCTGTC others(328): Show CGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTA TGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA TCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACG GCGTCTGTCCTGTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGAC TACCCTACGTACTTCCTATGAGGGGAGCTGCACGGT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	-335	c.439 others(17): Show c.439-8709_439-8375del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257549	CGTCCCTA others(328): Show CGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTTTT CCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACTT CCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG02074.hp1 others(4): Show HG00280.hp2 HG01167.hp2 HG02074.hp1 HG03831.hp1 NA18959.hp2 NA18983.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0015t0007	a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0009g0094 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0009g0094 a0001c0001t0011g0007 a0001c0001t0012g0053 a0001c0001t0015g0041 a0001c0015t0007g0026	7	133	0.0526	-335	c.439 others(19): Show c.439-10599_439-10265del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257594	CTGCACGG others(328): Show CTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTC CTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	133	0.0075	-335	c.439 others(19): Show c.439-10644_439-10310del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SBK2_chr19_55523611_55542133	55530466	CCTGCGGG others(328): Show CCTGCGGGTTTAGTGTGGCCTAGGGTGACCCCGTGAGGCCTAGTGTGACC TGTGAGGCCTGTGGGTTTAGTGGGGCCTAGTGTGACCTGTGAGGCCTGTG GGTTTAGTGTGGCTTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGTGGC CTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGTGGCCTAGGGTGACCCC GTGAGGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGGGGCCTAGTG TGACCTGTGAGGCCTGTGGGTTTAGTGTGGCTTAGTGTGACCCGTGAGGC CTGTGGGTTTAGTGTGGCCTAGTGTGACCTGTGAGG	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0003 a0009c0016t0003	a0009c0016t0003g0250 a0009c0016t0003g0250	1	434	0.0023	-335	c.456 others(15): Show c.456+342_457-144del	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3			chr19	TogoVar
SLC45A1_chr1_8313114_8349165	8341187	AAGACTCC others(328): Show AAGACTCCGTTTCAAAAAAAAAAAAAAAAAGAGTAAGAGGGACAATGAAT AGAAATTTCACTTCACAGCCGGGTGCGGTGGCTCACGCCTGTAATCTCAG CACTTTGGGAGGCTGAGGCGGGCGGATTACCTGAGGTCAGGAGTTCAAGA CCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAT TAGCCAGGCGTGGTGGCGGACGCCTATAGTCCCAGCTACACGGGAGGCTG AGGCAGGAGAATGGCGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCAAG ATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	388	0.0026	-335	c.198 others(19): Show c.1980+1499_1980+1833del	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1238235	TAGGAAAG others(328): Show TAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG AGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCA GGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGG CCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCAGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03834.hp1 NA21309.hp1 HG02004.hp2 HG03834.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0092 a0003c0004t0001g0302 a0003c0004t0001g0390 a0003c0004t0001g0092 a0003c0004t0001g0302 a0003c0004t0001g0390	3	456	0.0066	-335	c.732 others(15): Show c.732+204_732+538del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238297	GGCCTGGA others(328): Show GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGA GCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTC AGGAAAGACATCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGGTCA GGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAG CCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02148.hp1 HG02293.hp1 HG00642.hp1 HG02148.hp1 HG02293.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0052 a0009c0011t0001g0287 a0009c0011t0001g0289 a0009c0011t0001g0052 a0009c0011t0001g0287 a0009c0011t0001g0289	3	456	0.0066	-335	c.732 others(15): Show c.732+259_732+593del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC9A2_chr2_102614553_102716355	102706024	TAAGAATG others(328): Show TAAGAATGAGTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(257): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0004 others(2): Show a0001c0001 a0001c0003 a0002c0004 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0003t0003 a0002c0004t0001 a0003c0006t0004 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(256): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0079 a0001c0001t0003g0096 a0001c0001t0003g0114 a0001c0001t0003g0125 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0247 a0001c0001t0003g0255 a0001c0001t0003g0268 a0001c0001t0003g0279 a0001c0001t0003g0315 a0001c0001t0003g0342 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0317 a0001c0001t0005g0064 a0001c0001t0005g0168 a0001c0001t0005g0318 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0290 a0001c0001t0006g0294 a0001c0001t0006g0295 a0001c0001t0007g0105 a0001c0001t0007g0269 a0001c0001t0007g0328 a0001c0001t0007g0335 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0009 a0001c0001t0010g0077 a0001c0001t0010g0082 a0001c0001t0010g0083 a0001c0001t0013g0313 a0001c0001t0013g0316 a0001c0001t0014g0144 a0001c0001t0014g0225 a0001c0001t0015g0272 a0001c0001t0015g0288 a0001c0001t0016g0291 a0001c0001t0016g0293 a0001c0001t0017g0094 a0001c0001t0018g0265 a0001c0001t0019g0055 a0001c0001t0020g0003 a0001c0001t0021g0006 a0001c0001t0023g0008 a0001c0001t0024g0340 a0001c0001t0025g0341 a0001c0001t0026g0252 a0001c0001t0027g0075 a0001c0001t0029g0122 a0001c0001t0030g0010 a0001c0001t0031g0117 a0001c0001t0032g0230 a0001c0001t0033g0204 a0001c0001t0034g0289 a0001c0001t0036g0296 a0001c0003t0003g0012 a0001c0003t0003g0233 a0002c0004t0001g0145 a0002c0004t0001g0147 a0003c0006t0004g0334 a0004c0005t0001g0130	260	344	0.7558	-335	c.206 others(17): Show c.2068+102_2068+436del	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMG6_chr17_2054843_2308785	2242356	CAAAAAAA others(328): Show CAAAAAAAAAAAAAAAAAAAAAAAATTAGTCGGGCATGGTGGCAGGCACC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCG GGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAGATAAATAAGCCATCT GTGGTGGTGTGAGCATGCAGTCCCAGTGACACGGGAGGCTGAGCCACGAG TTCAAGGCTATAGTGCGGTATGATCACACCTGTGAATAGCCACTGCACTT CAGCCTGGGTAACACAGACAGGCTCCATCTCTTTAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0009 a0011c0008t0009	a0011c0008t0009g0224 a0011c0008t0009g0224	1	278	0.0036	-335	c.272 others(19): Show c.2723+1967_2723+2301del	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245991751	CCAGAAAC others(328): Show CCAGAAACGGCCTGCCGTCATTTCTATCATATTCTATTGGCCACACACAC CAACTTACAACTGAACCTCAGAAACGGCCTGCCGTCATTTCTATCATATT CTATTGGCCACACACACCAACTTACAACTGAACCTCAGAAACGGCCTGCC GTCATTTCTATCATATTCTATTGGCCACACACACCAACTTACAACTGAAC CTCAGAAACGGCCTGCCGTCATTTCTATCATATTCTATTGGCCACACACA CCAACTTACAACTGAACCTCAGAAACGGCCTGCCGTCATTTCTATCATAT TCTATTGGCCACACACACCAACTTACAACTGAACCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00738.hp1 others(35): Show HG00423.hp1 HG00597.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01175.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG03130.hp2 HG03225.hp1 HG03491.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18971.hp1 NA19057.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0007t0001	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0042 others(35): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0002g0010 a0001c0002t0002g0037 a0001c0002t0002g0070 a0001c0002t0002g0088 a0001c0012t0002g0074 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0133 a0002c0003t0001g0137 a0002c0003t0002g0131 a0002c0004t0001g0098 a0002c0004t0001g0140 a0002c0004t0001g0149 a0002c0007t0001g0120	38	150	0.2533	-335	c.532 others(19): Show c.532-62149_532-61815del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNPH_chr20_1261294_1314327	1302029	ATTTCTAA others(328): Show ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTC AAAATAAACCCCATTCCCATTAGCAATCACCGCCAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02258.hp1 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0040 a0001c0002t0016 a0001c0002t0040	a0001c0002t0016g0036 a0001c0002t0040g0034 a0001c0002t0016g0036 a0001c0002t0040g0034	2	350	0.0057	-335	c.440 others(17): Show c.440+1452_440+1786del	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
STOX1_chr10_68822531_68898060	68827942	GGGACCCG others(328): Show GGGACCCGGAGGGGAGGGGCGTCCCGGCCCGTGCAGCTGGCGCCGGGCTC GCTGGCGCTAGTGCTGTGCCGGCTGGAGGCGCAGAAGGCGGCGGGGGCCG CGGAGGAGCCTGGTGGGCGCGCGGTGTTCCGCGCTTTCCGTCGCGCCAAC GCGCGCTGCTTCTGGAACGCGCGGCTGGCGCGCGCCGCCTCGCGGCTGGC CTTCCAGGGCTGGCTGCGGCGGGGGGTGCTGCTGGTGCGCGCGCCCCCCG CCTGCCTGCAGGTGCTGCGCGATGCCTGGCGGCGCCGGGCCCTGCGGCCG CCGCGCGGCTTCCGCATCAGGGCGGTGGGTGAGTGC	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0308 a0012c0015t0001g0308	1	312	0.0032	-335	c.310 others(14): Show c.310+12_310+346del	STOX1	ENSG00000165730.16	transcript	ENST00000298596.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCFL5_chr20_62836005_62866822	62866293	GATCCCAG others(328): Show GATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACTTGATGTCAGGA GTTCGAGACCAGCCTGGCTAACATGGCAAAACCCCATCTTTACTAAAAAT ACAAAAATTGGCTGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTTG GCAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGCAGAGGTTGCAGT GAACTGATATTGTGCCACTGAACTCCAGCCTGGGCAACAGAGCGAAACCC TGTCTCAAAAAAATAATAAATAAAAAATAACAAAACAAAACAAAACAAAC CATGGAGCAGGCCGGGCGCAGTGGCTCACACCTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	390	0.0026	-335	c.-49 others(11): Show c.-4958_-4624del	TCFL5	ENSG00000101190.13	transcript	ENST00000335351.8	protein_coding		4472		chr20	TogoVar
TERB1_chr16_66749640_66806584	66789290	TAAAAAAA others(328): Show TAAAAAAAAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0022 a0006c0005t0001g0022	1	352	0.0028	-335	c.271 others(15): Show c.271+970_272-994del	TERB1	ENSG00000249961.10	transcript	ENST00000433154.6	protein_coding	5/18			chr16	TogoVar
TPO_chr2_1408463_1548673	1445044	CCTTCTTG others(328): Show CCTTCTTGTTTGTATGATGCAGTCATTGCTGCAGGAGGTACTGTGTTGGA AGGGAATGGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCA GGAGGCACCATGTTGGAAGGAAATGGGGCAGGCTCCTTCCTGTTTGTATG ATCCAGTCACTGCTGCAGGAGTCACCATGTTGGAAGGGAATGGGCAGGCT CCTTCTTGTTTGTATGATCCAATCACTGCTGCAGGAGGCACCATGTTGGA AGGGAATGGGCAGGCTCCTTCCTGTTTGTATGATCCAGTCATTGCTGCAG GAGGCACTGTGTTGGAAGGGAATGAGCAGGCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0019	1	130	0.0077	-335	c.483 others(17): Show c.483-8646_483-8312del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS53_chr17_503668_719839	506618	GGGTCAGG others(328): Show GGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGG TGACCTTCGAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTT CTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTTGAG ATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTC AGGACGGTGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACC TTCGAAAGCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGA AGAGCACCGGTGACCTTTGAGAGCGGGGTCAGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02622.hp2 others(8): Show HG01884.hp1 HG01891.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03139.hp2 HG03225.hp1 NA18959.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0001t0033 a0001c0001t0087 others(6): Show a0001c0001t0029 a0001c0001t0033 a0001c0001t0087 a0001c0001t0088 a0001c0001t0097 a0001c0001t0111 a0001c0001t0112 a0001c0001t0127 a0001c0002t0007	a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0033g0205 others(8): Show a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0087g0198 a0001c0001t0088g0152 a0001c0001t0097g0199 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0127g0159 a0001c0002t0007g0062	11	232	0.0474	-335	c.12 others(13): Show c.12175_*12509del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2049		chr17	TogoVar
AAGAB_chr15_67195667_67259661	67242127	TAAAAATC others(327): Show TAAAAATCATATCGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(116): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02602.hp2 HG02723.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03491.hp2 HG03579.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0020 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0013	a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(113): Show a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0009g0006 a0001c0001t0020g0023 a0002c0002t0001g0151 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0159 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0225 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0361 a0002c0002t0007g0130 a0002c0002t0007g0131 a0002c0002t0007g0204 a0002c0002t0013g0134 a0002c0002t0013g0158	119	380	0.3132	-334	c.74- others(15): Show c.74-5641_74-5308del	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179245469	TACAAAGA others(327): Show TACAAAGATGGGGGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0079 a0010c0079	a0010c0079t0011 a0010c0079t0011	a0010c0079t0011g0018 a0010c0079t0011g0018	1	276	0.0036	-334	c.688 others(19): Show c.688+27108_688+27441del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144556934	AGGCAAAA others(327): Show AGGCAAAAGGCTGAACCTTCATAGTATTCAGTGGCAAAAGCCTGAACCTT CATAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGGCAAAG GCTGAACCTTCATAGTATTCAGCGGCAAAAGCCTGAACCTTCATAGTACT CAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACCT TCATAGTATTCAGAGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCAA AGGCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCTTCGTAGTAT TCAGAGGCAAAGGCTGAACCTTCGTAGTATTCAGT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19043.hp1 HG03041.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0002t0001g0025 a0001c0001t0001g0024 a0001c0002t0001g0025	2	246	0.0081	-334	c.513 others(17): Show c.513-1625_513-1292del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ASTN2_chr9_116418112_117420057	116714784	TAAGAATC others(327): Show TAAGAATCATGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(87): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0002c0004 a0003c0016 a0003c0019 a0004c0024 a0005c0015 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0001c0003t0014 a0001c0005t0005 a0001c0007t0001 a0001c0008t0005 a0001c0009t0004 a0001c0009t0008 a0001c0010t0001 a0001c0010t0004 a0001c0011t0004 a0001c0012t0001 a0001c0013t0009 a0001c0014t0017 a0001c0017t0002 a0001c0021t0006 a0001c0022t0001 a0001c0023t0002 a0001c0025t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0003c0016t0004 a0003c0019t0002 a0004c0024t0013 a0005c0015t0003 a0007c0018t0003	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(87): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0003g0013 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0005g0035 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0001t0009g0086 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0001t0016g0075 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0003t0002g0044 a0001c0003t0003g0030 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0003t0007g0071 a0001c0003t0007g0074 a0001c0003t0012g0001 a0001c0003t0014g0083 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0012t0001g0098 a0001c0013t0009g0072 a0001c0014t0017g0050 a0001c0017t0002g0089 a0001c0021t0006g0056 a0001c0022t0001g0020 a0001c0023t0002g0069 a0001c0025t0001g0080 a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003 a0003c0016t0004g0027 a0003c0019t0002g0025 a0004c0024t0013g0101 a0005c0015t0003g0019 a0007c0018t0003g0031	90	102	0.8824	-334	c.280 others(21): Show c.2806+10653_2806+10986del	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
BAIAP2_chr17_81030151_81122434	81053909	GTGGGGTG others(327): Show GTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCTT GGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAAGG GTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGT GGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAAGGGTGGG AGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGACCCCGTGGGGTGGGAG CTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGTGGGAGCT GCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	376	0.0027	-334	c.130 others(15): Show c.130+207_130+540del	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDC42EP5_chr19_54460026_54478296	54471871	CCCCCCAG others(327): Show CCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGACCCCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGC CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CCCAGCCCCTCCTCCCTCAGACTCATGAGTCCAGA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	421	0.0024	-334	c.-14 others(17): Show c.-141-520_-141-187del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CNOT4_chr7_135356795_135515102	135504451	ACATCCGG others(327): Show ACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTATTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(136): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01993.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0010t0002 a0002c0002t0001 a0002c0002t0006 a0006c0007t0001	a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 others(136): Show a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0348 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0005g0001 a0001c0001t0008g0350 a0001c0010t0002g0326 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0006g0002 a0006c0007t0001g0311	139	362	0.3840	-334	c.-93 others(17): Show c.-93+5104_-93+5437del	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241806424	TCCCCCTC others(327): Show TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	314	0.0032	-334	c.22 others(11): Show c.2259_*2592del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2138		chr2	TogoVar
GGCT_chr7_30491621_30509829	30495985	TTTTTTTT others(327): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCTATCCTAAGCTTATTTTATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	444	0.0023	-334	c.77 others(10): Show c.773_*1106del	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding		635		chr7	TogoVar
GJB1_chrX_71218224_71230516	71230182	CCTGTAAT others(327): Show CCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCGGATCTGTTGAGGC CAGGAGTTCAAGACCAGCCTGGTCAATATGGCAAAACCCTGTCTCTATTA AAAATACAAAAATCAGGCAGGCGTGGTGGTGGGCGCCTGTAGTCCCACCT ACTCAGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCAGAGGCT GCAGTAAGCCGAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGTGA GACTCTGAAAAAAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAG GGAGGAAGGAAAGAAAGATTAGCTCATAAAATCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0031	-334	c.56 others(11): Show c.5624_*5957del	GJB1	ENSG00000169562.13	transcript	ENST00000361726.7	protein_coding		4667		chrX	TogoVar
HACL1_chr3_15555699_15606569	15592684	ACGCACAT others(327): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTAT ACACATGTACGCACATGTGTGCGTGTATACACATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG02055.hp2 others(12): Show HG01109.hp1 HG01168.hp2 HG02055.hp2 HG02280.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03225.hp2 HG03471.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0042 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385	15	428	0.0351	-334	c.228 others(17): Show c.228-1338_228-1005del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592700	GTATACAC others(327): Show GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTAT ACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGC GTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACAT GTGTGCGTGTATACACATGTACGCATATGTACATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp2 HG03942.hp1 others(3): Show HG02965.hp1 HG03486.hp2 HG03942.hp1 NA18981.hp2 NA19000.hp1 NA19080.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0004 a0001c0001t0001 a0007c0009t0004	a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0081 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0123 a0007c0009t0004g0394	6	428	0.0140	-334	c.228 others(17): Show c.228-1354_228-1021del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HORMAD1_chr1_150693060_150725895	150718959	TAGAATTC others(327): Show TAGAATTCTCAATTAATGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.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.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0005c0005 a0006c0004 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0003c0003t0001 a0004c0006t0001 a0005c0005t0001 a0006c0004t0001 a0007c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(189): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0003 a0001c0001t0002g0032 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0003g0114 a0001c0001t0004g0192 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0003c0003t0001g0021 a0003c0003t0001g0068 a0003c0003t0001g0083 a0004c0006t0001g0086 a0005c0005t0001g0109 a0006c0004t0001g0119 a0007c0007t0001g0079	383	392	0.9770	-334	c.33+ others(13): Show c.33+180_33+513del	HORMAD1	ENSG00000143452.16	transcript	ENST00000361824.7	protein_coding	2/14			chr1	TogoVar
KIF5A_chr12_57545044_57591633	57560779	ATTGCTTG others(327): Show ATTGCTTGAGCCCAGGAGTTTGAGACCAGCCCAGGCAACATGGTGAGACT CTGCCTCTACAAAAAATAAACAAAATTAGGCAGATATAGTGGTATGTGCC TGTGGTCCCAGCTACTTGGGAGGATTGCTTGGGCCTGGGAGGTTGCAGCT GCAGTGAGCTGTGATTTCGCCACTGTACTCCAGCCTACATGACAGATGAG ACCCTGACTCAAGAAAAAGAAAAGAAAAGAAAATAGAGAGATTTTTTGAT TATTTGTTTGTTTATTTGTTTGTTTGTTTGATACAGGGTCTCTCTCTGTC ACCCAGGCTGGAGTGCAGTGGCCCGATCTTGGCTC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	362	0.0028	-334	c.130 others(17): Show c.130-2659_130-2326del	KIF5A	ENSG00000155980.13	transcript	ENST00000455537.7	protein_coding	1/28			chr12	TogoVar
MIER2_chr19_300573_349796	303426	AATACACC others(327): Show AATACACCAAAGCACATTCTCATCAGACTCAATACACCAAAGCACATTCT CATCAGACTCAATACACCAAAGCACATCCTCATCAGACACCTCAATACAC CAAAGCACATCCTCATCAATACACCAAAGCACATCCTCATCAGACTCCTC AATACACCAAAGCACATTCTCATCAGACACCTCAATACACCAAAGCACAT CCTCATCAGACTCAATACACCAAAGCACATTCTCATCAGACTCAATACAC CAAAGCACATTCTCATCAGACACCTCAATACACCAAAGCACATCCTCATC AGACTCAATACACCAAAGCACATCCTCATCAGACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	384	0.0026	-334	c.29 others(11): Show c.2930_*3263del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		2146		chr19	TogoVar
MIER2_chr19_300573_349796	309674	ACACACAA others(327): Show ACACACAAGGCTTCAGGGAGACGAGAAGGGACACACACACGCACACAAGG CTTCAGGGACACGAGAAGGGACACACACACACGCACACAAGGCTTCAGGG AGACGAGAAGGGACACACACACACACACACAAGGCTTCAGGGAGACGAGA AGGGACACACACACACACGCACACAAGGCTTCAGGGAGACGAGAAGGGAC ACACACGCACACAAGGCTTCAGGGACACGAGAAGGGACACACACACACAC GCACACAAGGCTTCAGGGAGACGAGAAGAGACACACACACGCACACAAGG CTTCAGGGAGACGAGAAGGGACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	384	0.0026	-334	c.985 others(16): Show c.985-1083_985-750del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
NTM_chr11_131365615_132341822	132069947	ATGTCACA others(327): Show ATGTCACACAGCCAAGTTAACACGTCAAACTGACGATCACAGGTTAGTTA ACACGTCACACAGCCAAGTAAGTTAACACGTCAAACTGACCGTCACAGGT TAGTTAACACGTCACACAGCCAAGTTAACACGTCACACAGCCAAGTTAAC ACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCAAGTTA ACACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCAAGT TAACACGTCAAACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAA AACACGTCAAACTGACCATCACAGGTTAGTTAACG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	86	0.0116	-334	c.168 others(19): Show c.168-76286_168-75953del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31510659	TACATATG others(327): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTA TATCTATATGTAACATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0033 a0001c0002t0023g0209 a0001c0002t0023g0033 a0001c0002t0023g0209	2	244	0.0082	-334	c.894 others(17): Show c.894-7175_894-6842del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PRDM15_chr21_41793225_41884344	41806037	CACCACCA others(327): Show CACCACCATCACCACCACCACCATCACCATCACCACCACCATCACCACCA CCACCATCACCACCACCATCACCACCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCATCACCATCACCACCACCATCACCACCACCAC CATCACCACCACCACCATCACCATCACCATCACCATCACCACCATCACTA CCACCATCACCACCACCACCATCACCACCACCCATCACCACCACCACCAT CACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCATCA CCATCACCACCACCATCACCACCACCACCATCACT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp1 HG02451.hp2 others(3): Show HG00741.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG02896.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0016 a0001c0030 a0005c0042 a0001c0016 a0001c0030 a0005c0042	a0001c0016t0008 a0001c0030t0008 a0005c0042t0008 a0001c0016t0008 a0001c0030t0008 a0005c0042t0008	a0001c0016t0008g0040 a0001c0016t0008g0052 a0001c0016t0008g0058 others(3): Show a0001c0016t0008g0040 a0001c0016t0008g0052 a0001c0016t0008g0058 a0001c0016t0008g0062 a0001c0030t0008g0167 a0005c0042t0008g0165	6	406	0.0148	-334	c.265 others(19): Show c.2653-1757_2653-1424del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
RSPH10B2_chr7_6749103_6803765	6755693	GGGAGGCC others(327): Show GGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTCGACACCAGCCTG GCCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAG TATGGAGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGA GAATCACTTGAACCTGCAGTGAGGTTGCAGTGAGCCAGTGAGCCAAGATC CTGCCACTGCATTCCAACCTGCAGGACAGGGCTAGAGAGTCTGTCTAAAA AAAAAAAAAAAAAACAAACCCAAAAAACACAGAACTGGGCCGGGCACCCA CACCCGGTGACTCACGCCTGTAATCCCAGCACTTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0044 a0002c0006t0001g0044	1	108	0.0093	-334	c.-20 others(19): Show c.-206+1554_-205-1296del	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
RTN4RL1_chr17_1929677_2030334	1961783	AAAAAAAA others(327): Show AAAAAAAAAAAAAAAATTAGCAGGGCGTGGTGGCATGTGCCTGTAATCCC AGCTACTTGGGAGGCTGTGGCAGGAGAATCGCTCGAACCCGGGAGGTGGA GGTTGCAGTGAGCCAAGATCACACCATTGGACTCCAGCCTGGGCTACAGA GCGAGACTCTGCCTCAAAAAAAAAAAAGAAAAGAAAAGAAAGAAAAGAAA GAAAGAAAAGAAAAGCAGGCCGGGCGTGGTGGCTCATGCTTATAATCCCA GTGCTTTGGGAGGCTGAGGTAAGAGGATCACTTGAGTCCAGGGGTTTCAG AACAGCCTAGGCAACACAGCAAGACCCTATCTCTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03579.hp2 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0102 a0001c0001t0094 a0001c0001t0102	a0001c0001t0094g0015 a0001c0001t0102g0079 a0001c0001t0094g0015 a0001c0001t0102g0079	2	384	0.0052	-334	c.14- others(17): Show c.14-24309_14-23976del	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
SLC6A18_chr5_1220381_1251189	1238265	GGGGCCTC others(327): Show GGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGA AAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAA GAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTT GGAGTGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGG GGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0003 a0010c0012t0003	a0010c0012t0003g0240 a0010c0012t0003g0240	1	456	0.0022	-334	c.732 others(15): Show c.732+209_732+542del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
TERB1_chr16_66749640_66806584	66789290	TAAAAAAA others(327): Show TAAAAAAAAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00544.hp2 others(207): Show HG00099.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0003 a0001c0006 a0002c0002 others(2): Show a0001c0003 a0001c0006 a0002c0002 a0005c0004 a0008c0011	a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0002c0002t0001 a0002c0002t0005 a0005c0004t0001 a0008c0011t0001	a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0003t0001g0015 others(195): Show a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0329 a0001c0003t0002g0330 a0001c0003t0002g0331 a0001c0003t0002g0332 a0001c0003t0002g0333 a0001c0003t0002g0334 a0001c0003t0002g0335 a0001c0006t0001g0192 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0143 a0002c0002t0005g0324 a0005c0004t0001g0142 a0008c0011t0001g0184	210	352	0.5966	-334	c.271 others(15): Show c.271+971_272-994del	TERB1	ENSG00000249961.10	transcript	ENST00000433154.6	protein_coding	5/18			chr16	TogoVar
ZFAND3_chr6_37814727_38159624	37839266	CGCCTCCC others(327): Show CGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGGGTAGCTGG GACTACAGACGCGTGCCACCATGCCTAGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCTGGGATGGTCTCGATCTCCTGACCTC AAGTGATCTGCCTGCCTTGGCCTCCCAAAATGCTGGGATAACAGGCGTGA GCCACCGTGCCCGGCCAGTTATTTTTTTATTTTTTATTTTTTGTTGTTGT TGTTTTGTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCTCTGCAAGCTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	318	0.0031	-334	c.71+ others(17): Show c.71+19258_71+19591del	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANXA7_chr10_73370101_73419058	73417831	TAAAAGCA others(326): Show TAAAAGCATCTGAAATTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01884.hp2 others(14): Show HG00735.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp2 HG03098.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0003 a0001c0001t0005 a0001c0007t0007 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0007t0007 a0005c0006t0006	a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(14): Show a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0005g0028 a0001c0007t0007g0078 a0005c0006t0006g0021	17	264	0.0644	-333	c.-41 others(11): Show c.-4154_-3822del	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding		3774		chr10	TogoVar
BRSK2_chr11_1384934_1467689	1430776	CGGGGTCT others(326): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	360	0.0028	-333	c.92- others(15): Show c.92-5261_92-4929del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(326): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(3): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01433.hp1 HG04184.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0002c0033 a0003c0006 a0002c0001 a0002c0033 a0003c0006	a0002c0001t0001 a0002c0033t0001 a0003c0006t0001 a0002c0001t0001 a0002c0033t0001 a0003c0006t0001	a0002c0001t0001g0036 a0002c0001t0001g0166 a0002c0001t0001g0173 others(3): Show a0002c0001t0001g0036 a0002c0001t0001g0166 a0002c0001t0001g0173 a0002c0001t0001g0227 a0002c0033t0001g0161 a0003c0006t0001g0147	6	248	0.0242	-333	c.226 others(19): Show c.2268-3738_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CAMK1D_chr10_12344547_12840545	12775787	AGGTGAGA others(326): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01975.hp2 HG02155.hp2 others(2): Show HG00280.hp2 HG01975.hp2 HG02155.hp2 HG03831.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0018 a0001c0001t0050	a0001c0001t0002g0206 a0001c0001t0004g0017 a0001c0001t0009g0100 others(2): Show a0001c0001t0002g0206 a0001c0001t0004g0017 a0001c0001t0009g0100 a0001c0001t0018g0190 a0001c0001t0050g0027	5	214	0.0234	-333	c.565 others(17): Show c.565+5990_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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