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
PPP6R2_chr22_50338327_50450090	50397616	CAGGGGGG others(350): Show CAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0008 a0009c0016t0008	a0009c0016t0008g0221 a0009c0016t0008g0222 a0009c0016t0008g0221 a0009c0016t0008g0222	2	340	0.0059	-357	c.227 others(17): Show c.227+3482_227+3838del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23			chr22	TogoVar
PRKCA_chr17_66297613_66815743	66798489	CGGTGGTG others(350): Show CGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTG ACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18999.hp2 HG02056.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0067 a0001c0002t0003 a0001c0002t0067	a0001c0002t0003g0031 a0001c0002t0067g0093 a0001c0002t0003g0031 a0001c0002t0067g0093	2	178	0.0112	-357	c.185 others(19): Show c.1855-5364_1855-5008del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RBM19_chr12_113817057_113971325	113872408	TCCGCCCG others(350): Show TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCTCGG CCGCCCCTACTGGGAGGTGGGGAGCCCCTCTGCCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAAGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0312	1	356	0.0028	-357	c.255 others(21): Show c.2559-13869_2559-13513del	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RGPD8_chr2_112363369_112438645	112432885	TCCGCCTC others(350): Show TCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCATGACC CCTGACCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAAC AGAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCATGACCCCTGACCCATC GAGGCCGCCCCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCA GGGAGCAGCGCCCTCGGGAGCCATGACCCCTGACCCATCGAGGCCGCCGC CGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGC CCGTCGGGAGCCATGACCCCTGACCCATCGAGGCCGCCGCCGGGCCGGGT GGAGGCCG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01981.hp1 others(3): Show HG01256.hp1 HG01258.hp1 HG01981.hp1 HG02647.hp2 HG03490.hp2 NA20752.hp1	a0001 a0022 a0026 a0001 a0022 a0026	a0001c0001 a0022c0028 a0026c0032 a0001c0001 a0022c0028 a0026c0032	a0001c0001t0001 a0001c0001t0008 a0022c0028t0008 others(1): Show a0001c0001t0001 a0001c0001t0008 a0022c0028t0008 a0026c0032t0008	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0008g0071 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0008g0071 a0001c0001t0008g0072 a0022c0028t0008g0070 a0026c0032t0008g0069	6	254	0.0236	-357	c.72+ others(13): Show c.72+140_72+496del	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	1/22			chr2	TogoVar
SCGB1C2_chr17_132569_144067	140949	AGGGGGGC others(350): Show AGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCT GGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAA CATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGG GACATGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG03209.hp2 others(1): Show HG01109.hp1 HG02630.hp2 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016	4	402	0.0100	-357	c.20 others(11): Show c.2008_*2364del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1883		chr17	TogoVar
TFDP1_chr13_113579753_113646473	113594137	GTGGTGTG others(350): Show GTGGTGTGCGCGGGTCCTCAGCCGTGCCCAGGTGACAGGTGTGCTGTGTG CAGGTCCTCACCCAGCCAGGTGACAGGTGTGGTGTACACGGGTCCTCAGC CGTGCCCAGGTGACAGGTGTGGTGTACGTGGGTCCTCAGCCCTGTCCAGG TGGCAGGTGTCCTGTGTGTGGGTCCTCACCCTGCCCAGGTGACAGGTGTG CTGTGCACGCGTCCTCAGCTATACACAGGTGTCAGGCGTGATGCGTGTGG GTCCTCAGCCCTGCCCAGGTGACAGGTGTGCTGTGTGCTGATCCTCAGCC CTGCCCAGGTGACAGGTGTGCTGTGTGCTGATCCTCAGCCCTGTCCAGGT GACAGGTA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	348	0.0029	-357	c.12+ others(15): Show c.12+8311_12+8667del	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TSPEAR_chr21_44492893_44716572	44574003	CCAGCTCC others(350): Show CCAGCTCCTGCACGCCCTCGTGCTGCCAGCAGTCTAGCTGCCAGCTGGCT TGCTGTGCCTCCTCCCCCTGCCAGCAGGCCTGCTGCGTGCCCGTCTGCTG CAAGACTGTCTGCTGCAAGCCTGTGTGCTGTGTGCCCGTCTGCTGTGGGG ATTCTTCATGCTGCCAGCAGTCTAGCTGCCAGTCAGCTTGCTGCACCTCC TCCCCCTGCCAGCAGGCCTGCTGTGTGCCCATCTGCTGCAAGCCTGTCTG CTCTGGGATTTCCTCTTCGTGCTGCCAGCAGTCTAGCTGTGTGAGCTGTG TGTCCAGCCCCTGCTGCCAGGCGGTCTGTGAGCCCAGCCCCTGCCAATCA GGCTGCAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02809.hp1 HG06807.hp1 HG01496.hp2 HG02809.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0025 a0001c0001t0005g0100 a0001c0001t0007g0009 a0001c0001t0001g0025 a0001c0001t0005g0100 a0001c0001t0007g0009	3	294	0.0102	-357	c.83- others(15): Show c.83-6355_83-5999del	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TUBGCP2_chr10_133273635_133313872	133291444	TCCCTCCG others(350): Show TCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTC CGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTC CCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTG TCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCACGCG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	1	284	0.0035	-357	c.121 others(18): Show c.1214+698_1214+1054del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WRAP73_chr1_3625770_3655103	3643577	AATGGGGT others(350): Show AATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCGG ACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCG GACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCC GGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCC CGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCC CCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGC CCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAG CCCCGGAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	382	0.0026	-357	c.339 others(17): Show c.339+2732_339+3088del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
WRAP73_chr1_3625770_3655103	3644016	CGGCCCCG others(350): Show CGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCA GCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCC AGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACC CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GATCCAGT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	382	0.0026	-357	c.339 others(17): Show c.339+2293_339+2649del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
WRAP73_chr1_3625770_3655103	3644064	CAGCGGCC others(350): Show CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGG GGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAG GGGATCCAGTGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCAGAA GGGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	382	0.0026	-357	c.339 others(17): Show c.339+2245_339+2601del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
XKR4_chr8_55097028_55547054	55195137	CAAATAAT others(350): Show CAAATAATTTTCACCGACAAGTCCATGAACTAACTGGAAAAAAAGCAGTA TCTATCTCATATTAGATTCATTTACCATCAGATTTTACTATTAATGTTAA TAATTATCTATCAAAAATATAACGTTTATGTTTTTGATGAATTGTACACT AATAATAATATAACAAAAATAAAATTTAACACTGAGAGTTCTATGATCAT CTCTTTTACATTTTCATTTTAGTTTGTATACATACCTTTTATTTCAGGCA AGTATAATTGCATGATCAATTAGTTTTTTAAATAAAATATACTATTATAT ATAACATATATTTTAGTATAATATATAGCCTAAATATAAATAATTTATTA TTAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(22): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02602.hp1 HG02622.hp1 HG02723.hp2 HG02922.hp2 HG03130.hp1 HG03669.hp2 NA18522.hp2 NA18949.hp1 NA18972.hp1 NA18979.hp1 NA19002.hp1 NA19010.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0029 a0001c0001t0034 a0001c0001t0041 a0001c0001t0075 a0001c0001t0085 a0001c0001t0092 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0120 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0146 a0001c0001t0149 a0001c0001t0153 a0001c0001t0154 a0001c0001t0156	a0001c0001t0001g0169 a0001c0001t0002g0097 a0001c0001t0005g0142 others(22): Show a0001c0001t0001g0169 a0001c0001t0002g0097 a0001c0001t0005g0142 a0001c0001t0006g0166 a0001c0001t0029g0148 a0001c0001t0034g0170 a0001c0001t0041g0059 a0001c0001t0075g0151 a0001c0001t0085g0010 a0001c0001t0092g0047 a0001c0001t0098g0028 a0001c0001t0101g0014 a0001c0001t0102g0055 a0001c0001t0109g0054 a0001c0001t0110g0128 a0001c0001t0111g0130 a0001c0001t0120g0041 a0001c0001t0127g0013 a0001c0001t0128g0096 a0001c0001t0129g0063 a0001c0001t0146g0180 a0001c0001t0149g0174 a0001c0001t0153g0101 a0001c0001t0154g0181 a0001c0001t0156g0157	25	182	0.1374	-357	c.806 others(19): Show c.806+91849_806+92205del	XKR4	ENSG00000206579.10	transcript	ENST00000327381.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGAP8_chr22_44747575_44867784	44801134	CATGTGTG others(349): Show CATGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCC CTCCCCGCAGCTGTCCATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCCAT GTGTGGGGGCGCCTCTCCCCGCAGCTGTCTATGTGTGAGGGGCGCCTCTC CCCGCAGCTGTCTTTGTGTGGGGGCACCTCTCCCCGCAGCTGTCTATGTG TGAGGGGCACCTCTCCCCGCAGCTGTCTATGTGTGGGGGCACCTCTCCCC GCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCACAGCTGTCCATGTGTG GGGGCACCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCACCTCTCCCCGCA GCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0012 a0001c0009t0001g0012	1	390	0.0026	-356	c.80- others(13): Show c.80-911_80-556del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
C19orf12_chr19_29693937_29720261	29719417	TTATATAT others(349): Show TTATATATATATATAATATATATATTTATATATATAATATACATATTTAT ATATATATTATATATATTTATATATATATTATATTTATATATATTTATAT ATATTATATATATATTATATATATAATATATAAATATATTTATATAATAT AAATATATATATTTATATAATATAAATATATATATTTATATATATATAAA ATATATATAATATATAAGTTTGGACAAAGATATAGAATTATATAATATAT AAGTTTGGACAAAGATATAGAATTATATAATATATAATATAATATATCAG TATATATAATTGTACTATTATATAATTATATATAATTATATATATTTATA TATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(58): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02735.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp2 NA18968.hp2 NA18978.hp2 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19075.hp2 NA19080.hp2 NA19085.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0022 a0001c0001t0053 a0001c0002t0001 others(7): Show a0001c0001t0022 a0001c0001t0053 a0001c0002t0001 a0001c0002t0005 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0045 a0001c0002t0046 a0002c0003t0001	a0001c0001t0022g0072 a0001c0001t0022g0076 a0001c0001t0053g0236 others(31): Show a0001c0001t0022g0072 a0001c0001t0022g0076 a0001c0001t0053g0236 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0005g0079 a0001c0002t0040g0064 a0001c0002t0041g0086 a0001c0002t0042g0194 a0001c0002t0045g0080 a0001c0002t0046g0065 a0002c0003t0001g0196	61	418	0.1459	-356	c.-46 others(11): Show c.-4659_-4304del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4157		chr19	TogoVar
CARD11_chr7_2901142_3048867	3017787	CTAATCTT others(349): Show CTAATCTTTATGTTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGC TGGTCTCGATCTCCTGGGCTCAGGTGATCCTCCTGCCTTGGCCTCCCAAA GTACTGGGATTACAGGCTTGAGCCACCCCACCCGGCCCCGATATCTTGAG AACAAAAGCATTCCTAATTTGCTTTAAAGATAGTAATATCAATTCTTGCA AAATATAGTAATTAAGAAAATTAATCCTCCATCACAAATCCTTGTAGCAA AGTATATTTCCCCATGATTTTCTTTTTTTCTTTATCCTATATATAAACAA GTATTGTACCTAGGTAGACGCGTCCCTCCTCTTACTTTCAGGACCACCCT ACTCTGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG03453.hp2 HG01243.hp1 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0056 a0001c0002 a0001c0008 a0001c0056	a0001c0002t0001 a0001c0008t0001 a0001c0056t0002 a0001c0002t0001 a0001c0008t0001 a0001c0056t0002	a0001c0002t0001g0194 a0001c0008t0001g0193 a0001c0056t0002g0100 a0001c0002t0001g0194 a0001c0008t0001g0193 a0001c0056t0002g0100	3	322	0.0093	-356	c.-12 others(21): Show c.-126+25524_-126+25879del	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
DPH7_chr9_137549444_137583925	137566188	ACTCTGTC others(349): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACT	A A	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	340	0.0029	-356	c.641 others(17): Show c.641-1390_641-1035del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566544	TCTGTCTG others(349): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	340	0.0029	-356	c.641 others(17): Show c.641-1746_641-1391del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567400	ACTCTGTC others(349): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	340	0.0029	-356	c.641 others(17): Show c.641-2602_641-2247del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567512	TGGGTGAC others(349): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	340	0.0029	-356	c.641 others(17): Show c.641-2714_641-2359del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1121735	ATCTCTAT others(349): Show ATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTAT CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCT CTATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTAT CTCTATCTCTATCTATCTATCTCTATCTCTATCTCTATATCTCTATCTCT ATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0111 a0001c0001t0033g0111	1	162	0.0062	-356	c.156 others(19): Show c.1569+5712_1569+6067del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675786	CGGCGAGG others(349): Show CGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0229 a0001c0003t0004g0229	1	378	0.0027	-356	c.305 others(17): Show c.305-2095_305-1740del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696370	CGCTCGCT others(349): Show CGCTCGCTCCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCT CCCCATCAGCCTGCACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTC CCCATCAGCCTGCGCTCGCTCCTCTCACCCTCTCTCCCTCTCCTTCCTCC CCATCAGCCTGTGCGCGCTCCTCACACCCTCCCTCTCCTTCCTCCCCATC AGCCTGTACTCGCTCCTCTTACCCTCCACTCCTTCCTCCCCATCAGCCTG CGCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGC GCTCGCTCCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCTC CCCATCA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03098.hp1 HG03490.hp1 HG01099.hp1 HG03098.hp1 HG03490.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0002 a0002c0005t0001 a0002c0005t0002	a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0002g0284 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0002g0284	3	378	0.0079	-356	c.170 others(17): Show c.170-4114_170-3759del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FOXN1_chr17_28501348_28543900	28516728	CTCCACAG others(349): Show CTCCACAGGGTACACACTTCCACAGGGTACACACCTCCACAGGATCCATA CCTCAAAAGGGTACACATCTCCACAGGGTACACACCTCCACAGGATACAC ACCTCCACAGGGTACACACCTCCACAGGGTACACAACTCCACTGGGTACA CACCTCCACAGGATCCATACCTCCACAAGGACACACCTCCACAGGGTACA CACCTCCACAGGATCCATACCTCCATAGGGTACACACCTCCGCAGGATCC ATACCTCCACAGGGTACACACCTCCACAGGATCCATACCATCACAGGGTA CACGCCTCCACAGAGTACATACCTCCACAGGATCCACACCTCCACAGGGT ACACACT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	356	0.0028	-356	c.-14 others(17): Show c.-14-7211_-14-6856del	FOXN1	ENSG00000109101.8	transcript	ENST00000579795.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN1_chr17_28501348_28543900	28516839	GTACACAC others(349): Show GTACACACCTCCACAGGGTACACAACTCCACTGGGTACACACCTCCACAG GATCCATACCTCCACAAGGACACACCTCCACAGGGTACACACCTCCACAG GATCCATACCTCCATAGGGTACACACCTCCGCAGGATCCATACCTCCACA GGGTACACACCTCCACAGGATCCATACCATCACAGGGTACACGCCTCCAC AGAGTACATACCTCCACAGGATCCACACCTCCACAGGGTACACACTTCCA CAGGGTACACACCTCCACAGGATCCATACCTCAAAAGGGTACACATCTCC ACAGGGTACACACCTCCACAGGATCCACACCTCCACAGGGTACACACCTC CACAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01099.hp1 others(56): Show HG00140.hp1 HG01069.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02451.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA18950.hp2 NA18956.hp1 NA18960.hp1 NA18982.hp2 NA18998.hp1 NA19003.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA20300.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0007t0025 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0010c0015t0001	a0001c0001t0001g0006 a0001c0001t0001g0147 a0001c0001t0001g0206 others(41): Show a0001c0001t0001g0006 a0001c0001t0001g0147 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0130 a0001c0001t0002g0210 a0001c0001t0002g0229 a0001c0001t0017g0204 a0001c0007t0025g0227 a0002c0002t0001g0015 a0002c0002t0001g0205 a0002c0002t0001g0212 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0129 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0009g0035 a0002c0002t0009g0218 a0010c0015t0001g0015	59	356	0.1657	-356	c.-14 others(17): Show c.-14-7093_-14-6738del	FOXN1	ENSG00000109101.8	transcript	ENST00000579795.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GRTP1_chr13_113319163_113369130	113346194	GAGAGCAG others(349): Show GAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGAC CTCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCT GGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGA GAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCT CTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAG GAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACA GTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCT GTGGCAA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	288	0.0035	-356	c.466 others(17): Show c.466-1591_466-1236del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346251	GCCGAGAG others(349): Show GCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGA CCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGA CCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC TGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACC TCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAA AGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACC TCTGTGC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	288	0.0035	-356	c.466 others(17): Show c.466-1648_466-1293del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346260	AGATCCGG others(349): Show AGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGG CAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGAC CTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGAC AAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGAC CTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGAC CCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCT GACAGTG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	288	0.0035	-356	c.466 others(17): Show c.466-1657_466-1302del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346263	TCCGGGAG others(349): Show TCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAG AGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTG GGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAG AGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTC TGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCA GGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGAC AGTGGAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02300.hp2 HG03834.hp2 others(1): Show HG00323.hp1 HG02300.hp2 HG03834.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0209 a0001c0001t0001g0273	4	288	0.0139	-356	c.466 others(17): Show c.466-1660_466-1305del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346591	CGGGAGGA others(349): Show CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAG AGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CGGATCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	288	0.0035	-356	c.466 others(17): Show c.466-1988_466-1633del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GTPBP4_chr10_983434_1024932	1010800	CCCTCCAT others(349): Show CCCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTGG TGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTG CCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCC TCTTCATTCTCCTGCACCCCTCCATCCTGACTGTGCCTCCTGCACCACCT TCCCCCCCACCCTGTGTCTCCGCCAGGCCCTGGATGGGCTCTGCTGTGCT GGGCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCTCCTGCACC TCTTCCCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCT CCTGCAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 HG03209.hp1 HG03453.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0024 a0006c0004t0024	a0006c0004t0024g0073 a0006c0004t0024g0074 a0006c0004t0024g0073 a0006c0004t0024g0074	2	370	0.0054	-356	c.134 others(17): Show c.1344+283_1344+638del	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GYG2_chrX_2823930_2887818	2845039	ATGTGTAT others(349): Show ATGTGTATGTATATATACACGTGTGTATGTATATTTATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTAT ATACACG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18942.hp2 NA18964.hp1 others(2): Show HG01516.hp2 NA18942.hp2 NA18964.hp1 NA18987.hp1 NA19083.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0014 a0001c0001 a0002c0002 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0008c0014t0018	a0001c0001t0001g0139 a0001c0001t0002g0149 a0002c0002t0004g0148 others(2): Show a0001c0001t0001g0139 a0001c0001t0002g0149 a0002c0002t0004g0148 a0002c0002t0004g0310 a0008c0014t0018g0147	5	316	0.0158	-356	c.149 others(17): Show c.149+1699_149+2054del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
LMF1_chr16_848634_975984	952951	GCACGTCC others(349): Show GCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGAC ACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCACCCCA AACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAG CCTCCTA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02004.hp1 HG01074.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0103 a0001c0001t0001g0107	2	294	0.0068	-356	c.503 others(17): Show c.503+1050_503+1405del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50511351	GCAATCTC others(349): Show GCAATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACTGGCACCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCCTGAGCCACCGCGTCCGATCCTGCCTCAGC CTCTTGAGTAGCCGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTT TTTTTTTTTTCTTGAGACAGAGTCTTGCCCTGTGGCCCAAGTTGGAGTGC AGTGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01256.hp2 others(34): Show HG01109.hp2 HG01243.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0009	a0001c0006 a0001c0011 a0001c0018 others(7): Show a0001c0006 a0001c0011 a0001c0018 a0001c0021 a0001c0028 a0001c0030 a0003c0027 a0004c0026 a0007c0034 a0009c0033	a0001c0006t0001 a0001c0011t0001 a0001c0011t0010 others(8): Show a0001c0006t0001 a0001c0011t0001 a0001c0011t0010 a0001c0018t0005 a0001c0021t0001 a0001c0028t0009 a0001c0030t0001 a0003c0027t0001 a0004c0026t0001 a0007c0034t0001 a0009c0033t0001	a0001c0006t0001g0002 a0001c0006t0001g0008 a0001c0006t0001g0009 others(21): Show a0001c0006t0001g0002 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0171 a0001c0006t0001g0172 a0001c0006t0001g0180 a0001c0011t0001g0138 a0001c0011t0001g0139 a0001c0011t0001g0141 a0001c0011t0001g0142 a0001c0011t0001g0143 a0001c0011t0001g0176 a0001c0011t0010g0144 a0001c0018t0005g0021 a0001c0018t0005g0175 a0001c0021t0001g0177 a0001c0021t0001g0178 a0001c0028t0009g0121 a0001c0030t0001g0179 a0003c0027t0001g0120 a0004c0026t0001g0328 a0004c0026t0001g0329 a0007c0034t0001g0174 a0009c0033t0001g0173	37	414	0.0894	-356	c.-40 others(11): Show c.-4032_-3677del	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding		3650		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50511351	GCAATCTC others(349): Show GCAATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACTGGCACCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCCTGAGCCACCGCGTCCGATCCTGCCTCAGC CTCTTGAGTAGCCGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTT TTTTTTTTTTCTTGAGACAGAGTCTTGCCCTGTGGCCCAAGTTGGAGTGC AGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01256.hp1 others(33): Show HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0002c0004 a0002c0005 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0006t0002 a0001c0017t0012 a0002c0004t0003 a0002c0005t0003 a0003c0018t0002	a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0070 others(21): Show a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0003g0025 a0001c0002t0001g0006 a0001c0002t0001g0026 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0006t0002g0073 a0001c0017t0012g0066 a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0228 a0002c0005t0003g0071 a0002c0005t0003g0072 a0003c0018t0002g0065	36	384	0.0938	-356	c.108 others(17): Show c.108+2932_108+3287del	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
RPH3AL_chr17_207389_357807	288399	ACACCCTC others(349): Show ACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCC TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	133	0.0075	-356	c.352 others(17): Show c.352-6901_352-6546del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SIGIRR_chr11_400716_419999	401824	CACCCCCG others(349): Show CACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCAC CCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGC TCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGAC CCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCC GGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTG ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTC ACCCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	242	0.0041	-356	c.37 others(11): Show c.3716_*4071del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3891		chr11	TogoVar
SORCS2_chr4_7187538_7747827	7565834	GATGGTGA others(349): Show GATGGTGATGGTGATGATGGTGATGATGGTGATGATGTGATGATGGAGAT GATGATGGTGGTGATAGTGATTATGGTGGTGATGGTGATGATGGCAATGA TAGTGATGATGGTGATGGTAGTGATGGTGATGCTGTGATGATGGTGATGA TAATGGTAATGGTGATGATGGTGATAATGATGGTGATGATGGTGATAATG ATAGTGATGATGGCGATGGTGATGATGATGATGGTGATGACGGTAATGAT GACAGAGATGATGATAATGTGATAATGGTAATGGTGATGGTGATGATGGT GGTGATGATAGAGATGATAATGTGATATTGGTGATGGTGATGGTAGTGAT ATTGATA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp1 HG02602.hp1 others(1): Show HG01175.hp1 HG01346.hp1 HG02602.hp1 HG03492.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0002 a0001c0006 a0002c0004 others(1): Show a0001c0002 a0001c0006 a0002c0004 a0014c0024	a0001c0002t0035 a0001c0006t0005 a0002c0004t0003 others(1): Show a0001c0002t0035 a0001c0006t0005 a0002c0004t0003 a0014c0024t0049	a0001c0002t0035g0090 a0001c0006t0005g0165 a0002c0004t0003g0046 others(1): Show a0001c0002t0035g0090 a0001c0006t0005g0165 a0002c0004t0003g0046 a0014c0024t0049g0108	4	168	0.0238	-356	c.648 others(19): Show c.648+34221_648+34576del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM63C_chr14_77176798_77264495	77220851	ACCTCTCA others(349): Show ACCTCTCACTCACGCCCCGCCTCCCACTCACGCCCCGCCTCCCACTCACG CCCCGCCTCCCACTCACGCCTCCTCTCCCACCCACGCCTCCCCTCCCACT CTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCCCA CTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCA CACTCACGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCATGCCCTGC CTCCCACTCACGCCTCCTCTCTCACTTACACCCCACCTCCCACTCACGCC TCCCCTCCCACTCATGCCCCACCTCCCACTCACACCTCCTCTCTCATTCA CACCCCG	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	322	0.0031	-356	c.312 others(16): Show c.312+769_312+1124del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77220856	TCACTCAC others(349): Show TCACTCACGCCCCGCCTCCCACTCACGCCCCGCCTCCCACTCACGCCCCG CCTCCCACTCACGCCTCCTCTCCCACCCACGCCTCCCCTCCCACTCTCGC CTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCCCACTCTC GCCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCACACTC ACGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCATGCCCTGCCTCCC ACTCACGCCTCCTCTCTCACTTACACCCCACCTCCCACTCACGCCTCCCC TCCCACTCATGCCCCACCTCCCACTCACACCTCCTCTCTCATTCACACCC CGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	322	0.0031	-356	c.312 others(16): Show c.312+780_312+1135del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TNK2_chr3_195858364_195913551	195874978	TCCCCTCG others(349): Show TCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCC TCGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGG ATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCG CCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACG CACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGC TCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAG GCACACGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAA GAAACTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG01255.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0010 a0003c0005 a0001c0002 a0002c0010 a0003c0005	a0001c0002t0001 a0002c0010t0001 a0003c0005t0001 a0001c0002t0001 a0002c0010t0001 a0003c0005t0001	a0001c0002t0001g0052 a0002c0010t0001g0053 a0003c0005t0001g0051 others(1): Show a0001c0002t0001g0052 a0002c0010t0001g0053 a0003c0005t0001g0051 a0003c0005t0001g0054	4	372	0.0108	-356	c.125 others(19): Show c.1257-2864_1257-2509del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
ZNF888_chr19_52899415_52928428	52927013	TGGCCTCC others(349): Show TGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCTCTTTGCCTGGCCA AAACTTTTCTTTTTTAAATTGATATTAGGAAACTGAATTATATAGCTTTT TTTTTTTTTTTTTTTTTTTTTTGGTACGGAGTCTTGCTCTGTTGCCCAGG CTGGGGTGCAGTGGCATGATCTTGGCCCACTGCAACTTCCACCTCCCCGG ATCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAATACAGGCG TGCCCCACCATGCCCTGTAATGGCTTTGTATGTTTACTGGAGACGGGGTT TCACCACGTTGGCCAGGCTGGTTTCTAACTCCTGACCTCAAGTGATCCGC CCACCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0142 a0002c0003t0011g0142	1	426	0.0024	-356	c.-41 others(11): Show c.-4178_-3823del	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding		3586		chr19	TogoVar
ABR_chr17_998519_1184981	1131448	TCTTTGCA others(348): Show TCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCTTTG CACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTTGCACAC CAAATGCAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACACCAAATG CAGTGCCTGACACGCACACAGCTCCCCCCTTTGCACACCAAATGCAGTGC CTGACACGCACACAGCTCCCCCTTTGCACACCAAATGCAGTGCCTGCCAC GCGCACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCAG AGCTCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCT CCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG04204.hp2 HG01243.hp1 HG02895.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0203 a0001c0001t0001g0230 a0001c0001t0001g0124 a0001c0001t0001g0203 a0001c0001t0001g0230	3	337	0.0089	-355	c.62- others(15): Show c.62-6436_62-6082del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1238350	CCTCTGCC others(348): Show CCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTC CCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTG TTTACT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0024 a0010c0009t0024	a0010c0009t0024g0016 a0010c0009t0024g0016	1	106	0.0094	-355	c.136 others(19): Show c.1361+3426_1361+3780del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238357	CTCCCGGT others(348): Show CTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGT TCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTC CCTGCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02027.hp2 HG02080.hp1 others(1): Show HG01884.hp1 HG02027.hp2 HG02080.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0001c0001t0055 a0002c0002t0038 others(1): Show a0001c0001t0017 a0001c0001t0055 a0002c0002t0038 a0002c0002t0041	a0001c0001t0017g0030 a0001c0001t0055g0089 a0002c0002t0038g0048 others(1): Show a0001c0001t0017g0030 a0001c0001t0055g0089 a0002c0002t0038g0048 a0002c0002t0041g0074	4	106	0.0377	-355	c.136 others(19): Show c.1361+3419_1361+3773del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AP3D1_chr19_2095988_2156566	2128475	CGCTCCGA others(348): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCACA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	406	0.0025	-355	c.806 others(15): Show c.806+260_806+614del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATP2B2_chr3_10319023_10510586	10355791	CGGCCGGG others(348): Show CGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTACTTGTCCTTTCC TTTGTG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01516.hp1 HG01358.hp1 HG01516.hp1	a0001 a0001	a0001c0005 a0001c0029 a0001c0005 a0001c0029	a0001c0005t0002 a0001c0029t0002 a0001c0005t0002 a0001c0029t0002	a0001c0005t0002g0284 a0001c0029t0002g0104 a0001c0005t0002g0284 a0001c0029t0002g0104	2	290	0.0069	-355	c.213 others(19): Show c.2136+2545_2136+2899del	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	14/22			chr3	TogoVar
COL5A1_chr9_134636803_134849843	134849488	CCAGGAAC others(348): Show CCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACACCTCCC AGGAACCATGATATCACACCTCCCAGGGAGCACAGGATCAGACCCCCCAG GGAGCACAGGATCACACCTCTCAGGAAGAACAGGATCACACCTCCCGGGG AAGACGATAGCACACCTCCCAGCGAGTGTGAGATCACACCTCCCAGTGAG CGTGGGATCACACCTCCCAGGAAGCATGGTATCACACCTCCCAGGAAGCA CAGGATCACACCTCCCAGGAAGCACGGGATCACACCTCCCAGGAAGCATG GGATCACACCTCCCAGGGAGCACCAGATCACACCTCCCAGGAACCACGAT ATCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG02723.hp1 HG02922.hp2	a0001 a0001	a0001c0016 a0001c0025 a0001c0016 a0001c0025	a0001c0016t0001 a0001c0025t0015 a0001c0016t0001 a0001c0025t0015	a0001c0016t0001g0022 a0001c0025t0015g0007 a0001c0016t0001g0022 a0001c0025t0015g0007	2	272	0.0074	-355	c.71 others(11): Show c.7186_*7540del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4646		chr9	TogoVar
CSTPP1_chr11_46931761_47167247	47097243	TGCCCGGC others(348): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCG CCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	224	0.0045	-355	c.281 others(19): Show c.281-40360_281-40006del	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CYP2W1_chr7_978181_994640	989889	GAGTGGCG others(348): Show GAGTGGCGCGTGTGCTGGTGGCGGTGTGGTCGGCAGTGTGAGTGGCACCT GTGCTGGTGGTGGCGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGGGGGC GGTGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGG CAGTGTGAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGTG GCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGTGGCGCGTGTGCT GGGGGCGGTGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGGGGGCGGTGT GGTCGGCAGTGTGACAGTGGCGCGTGTGCTGGGGGTGGTGTGGTCGGCAG TGTGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	408	0.0025	-355	c.10 others(11): Show c.1068_*1422del	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		250		chr7	TogoVar
DHRSX_chrX_2214506_2505976	2276887	AGGGGAAA others(348): Show AGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAG GGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAGAGA GAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGGAGGAGAGGGAGGAAATAGGGGGAAAGAGAGAAAGAGAGA TGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAG AAGGAAGAGGAGGAAATAGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAA CAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGA GGAAAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02647.hp1 HG03098.hp1 others(2): Show HG02071.hp1 HG02647.hp1 HG03098.hp1 HG03471.hp1 NA18522.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0004c0004t0005 a0004c0004t0009	a0001c0001t0001g0003 a0002c0002t0002g0016 a0002c0002t0004g0035 others(2): Show a0001c0001t0001g0003 a0002c0002t0002g0016 a0002c0002t0004g0035 a0004c0004t0005g0030 a0004c0004t0009g0032	5	50	0.1000	-355	c.389 others(18): Show c.389-10295_389-9941del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar

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