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
RAP1GAP2_chr17_2791438_3042741	3001295	TATCAGCC others(191): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0092 a0003c0018t0092	a0003c0018t0092g0096 a0003c0018t0092g0096	1	218	0.0046	-198	c.120 others(19): Show c.1200+3017_1200+3214del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001394	AATCAGCC others(191): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG03490.hp2 others(1): Show HG00099.hp2 HG00738.hp1 HG03490.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0006 a0002c0003t0012 a0002c0003t0069 others(1): Show a0001c0004t0006 a0002c0003t0012 a0002c0003t0069 a0002c0003t0072	a0001c0004t0006g0120 a0002c0003t0012g0073 a0002c0003t0069g0020 others(1): Show a0001c0004t0006g0120 a0002c0003t0012g0073 a0002c0003t0069g0020 a0002c0003t0072g0021	4	218	0.0184	-198	c.120 others(19): Show c.1200+3055_1200+3252del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114103784	AGCCACGG others(191): Show AGCCACGGACACCCACCCCCGATGCGTCCACACTGCCGCCGACCACAGAC ACCCACCCCTGATGCGTTCACACTGCCCCCGGCCACAGACACCCACCCCT GATGCGTCCACACTGCCCCGGCCACGGACACCCACCCCCGATGCGTCCAC GCTGCCACAGCCACGGACACCCACCCCCGATGCGTCCACACTGCCGCCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	6	67	0.0896	-198	c.55+ others(17): Show c.55+28453_55+28650del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RNF213_chr17_80255852_80403794	80314259	GTGGTAAA others(191): Show GTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGAGGTACTGG AGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTG GTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18986.hp2 NA19240.hp1 HG02723.hp1 NA18986.hp2 NA19240.hp1	a0002 a0008 a0018 a0002 a0008 a0018	a0002c0002 a0008c0028 a0018c0108 a0002c0002 a0008c0028 a0018c0108	a0002c0002t0010 a0008c0028t0018 a0018c0108t0006 a0002c0002t0010 a0008c0028t0018 a0018c0108t0006	a0002c0002t0010g0050 a0008c0028t0018g0244 a0018c0108t0006g0083 a0002c0002t0010g0050 a0008c0028t0018g0244 a0018c0108t0006g0083	3	292	0.0103	-198	c.281 others(19): Show c.2811+1097_2811+1294del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314337	GTGGTGGT others(191): Show GTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGT GGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGA TGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTG GAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0091 a0091	a0091c0113 a0091c0113	a0091c0113t0021 a0091c0113t0021	a0091c0113t0021g0031 a0091c0113t0021g0031	1	292	0.0034	-198	c.281 others(19): Show c.2811+1171_2811+1368del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314679	GTGGTGGT others(191): Show GTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGA GGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGG TGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTA ATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01071.hp1 others(9): Show HG00639.hp2 HG00741.hp2 HG01071.hp1 HG01243.hp1 HG01928.hp2 HG02145.hp2 HG02622.hp2 HG02965.hp2 HG03130.hp2 HG03486.hp1 HG03579.hp1 NA20300.hp2	a0001 a0002 a0008 others(4): Show a0001 a0002 a0008 a0051 a0052 a0054 a0069	a0001c0021 a0001c0124 a0001c0132 others(6): Show a0001c0021 a0001c0124 a0001c0132 a0002c0039 a0008c0013 a0051c0135 a0052c0134 a0054c0137 a0069c0065	a0001c0021t0001 a0001c0021t0002 a0001c0124t0002 others(8): Show a0001c0021t0001 a0001c0021t0002 a0001c0124t0002 a0001c0132t0026 a0002c0039t0014 a0008c0013t0028 a0008c0013t0044 a0051c0135t0078 a0052c0134t0008 a0054c0137t0016 a0069c0065t0025	a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069 others(9): Show a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069 a0001c0124t0002g0068 a0001c0132t0026g0006 a0002c0039t0014g0240 a0008c0013t0028g0241 a0008c0013t0044g0236 a0051c0135t0078g0016 a0052c0134t0008g0014 a0054c0137t0016g0015 a0069c0065t0025g0029	12	292	0.0411	-198	c.281 others(19): Show c.2811+1525_2811+1722del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
ROBO1_chr3_78592239_79772998	78842356	TTTTATAT others(191): Show TTTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATAT TTTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATAT TTTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATAT TTTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	44	0.0227	-198	c.500 others(19): Show c.500-95654_500-95457del	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
RPTOR_chr17_80539838_80971368	80744199	CCCTGGTT others(191): Show CCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0066 a0001c0040t0066	a0001c0040t0066g0180 a0001c0040t0066g0180	1	196	0.0051	-198	c.655 others(17): Show c.655-9805_655-9608del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP1_chr12_48037897_48111079	48056650	AATATATT others(191): Show AATATATTATTTAATATATTACATATTACATATATAAATATATTATTTAA TATATTACATATTACATATATAAATATATTATTTAATATATTACATATTA CATATATAAATATATTTAACATATTACATATTACATATATATTATTTAAT ATATTACATATTACATATATAAATATATTTAACATATTACATATTACAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0303 a0001c0001t0024g0303	1	394	0.0025	-198	c.140 others(19): Show c.1407+6862_1407+7059del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SGSM2_chr17_2332501_2386054	2356676	GTTGGGGG others(191): Show GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA TTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0108	1	422	0.0024	-198	c.134 others(17): Show c.134-4954_134-4757del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC45A1_chr1_8313114_8349165	8331247	TAAAAAAT others(191): Show TAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACT TTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAATATTTTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	388	0.0026	-198	c.144 others(17): Show c.1443+331_1443+528del	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC7A1_chr13_29504414_29600688	29558673	GGGGGAGT others(191): Show GGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTG AATGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGG GGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAAT CTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02148.hp1 HG00738.hp2 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0197 a0001c0002t0009g0306 a0001c0002t0009g0197 a0001c0002t0009g0306	2	330	0.0061	-198	c.-11 others(19): Show c.-114-5011_-114-4814del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SPINK4_chr9_33235167_33253567	33251886	GAGAAGGG others(191): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCT CCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA AGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTC CCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02129.hp2 HG02572.hp1 others(19): Show HG02109.hp1 HG02129.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp1 HG04204.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0066 a0002c0002t0002g0003 a0002c0002t0002g0008 others(7): Show a0001c0001t0001g0066 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0015 a0002c0002t0002g0034 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0088	22	378	0.0582	-198	c.34 others(11): Show c.3416_*3613del	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		3320		chr9	TogoVar
SRGAP2B_chr1_144882288_145100328	144883853	GGGGGGGG others(191): Show GGGGGGGGGAGGGGGGGAAGCCGCGGCGGCGGGGGGCGAAAAGCCACGGC GGCGGGGGGTAAAAAGCCGCGGCGGTCAAAAAGCCGAGGCGGGGTGGGGG GGGGGGAGGGGGGGAAGCCGCGGCGGCGGGGGGCGAAAAGCCACGGCGGC GGGGGGTAAAAAGCCGCGGCGGTCAAAAAGCCGAGGCGGGGTGGGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	56	0.0179	-198	c.81 others(11): Show c.8109_*8306del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3434		chr1	TogoVar
STX16_chr20_58646283_58684526	58648367	GGTGCTGC others(191): Show GGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACGGTGCTGCCTTTGGGGC CTGGTCAGAGCTGCACGGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACG GTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACGGTGCTGCCTTTGGGGCC TGGTCAGAGCTGCACGGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG03195.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0001 a0001c0002t0009g0161 a0001c0001t0002g0001 a0001c0002t0009g0161	3	384	0.0078	-198	c.-36 others(11): Show c.-3639_-3442del	STX16	ENSG00000124222.23	transcript	ENST00000371141.8	protein_coding		2915		chr20	TogoVar
TLCD3A_chr17_727596_747968	727715	GGGGCTCA others(191): Show GGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATA GGCAGGAGCCACCTCCTGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTA AAGTGCCGGGATAATAGGCAGGAGCCAACTCCGGGGCTCAAGTGATCCTC CCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGAGCCACCTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(16): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG03490.hp1 HG03704.hp2 HG04204.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0002c0004t0005 a0001c0001t0002 a0001c0001t0003 a0002c0004t0005	a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0087 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0087 a0001c0001t0003g0009 a0001c0001t0003g0045 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0002c0004t0005g0047	19	396	0.0480	-198	c.-49 others(11): Show c.-4932_-4735del	TLCD3A	ENSG00000167695.15	transcript	ENST00000308278.13	protein_coding		4880		chr17	TogoVar
TMCO3_chr13_113486021_113555229	113543215	ACCACCTC others(191): Show ACCACCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCT CCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCCTCCCCCTGCCC CCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCT CCCTGTCCGTGACCCCACCTCCTCCCCCTGCCCTCCCTCTGTCCATGAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG02451.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0313 a0002c0004t0007g0314 a0002c0004t0007g0313 a0002c0004t0007g0314	2	368	0.0054	-198	c.169 others(19): Show c.1690+3711_1691-3885del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNC_chr9_115014575_115123157	115095496	ATATATGT others(191): Show ATATATGTATATATATATGTATATATATGTATATATATATGTATATATAT GTATATATATGTATATATATGTATATATATGTATATATATGTATATATAT GTATATATATATGTATATATGTATATATATATGTATATATATGTATATAT ATATGTATATATATGTATATATATATGTATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0077 a0003c0077	a0003c0077t0004 a0003c0077t0004	a0003c0077t0004g0356 a0003c0077t0004g0356	1	366	0.0027	-198	c.-13 others(19): Show c.-136-4540_-136-4343del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TRIP13_chr5_887884_923120	897348	TTCAGTGT others(191): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02080.hp1 NA18951.hp1 others(15): Show HG00609.hp1 HG02080.hp1 NA18951.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp1 NA18994.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0192 a0001c0001t0006g0184	18	402	0.0448	-198	c.388 others(15): Show c.388+683_388+880del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898665	TCAGTCAG others(191): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	402	0.0025	-198	c.389 others(17): Show c.389-1697_389-1500del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	899325	TCAGTCAG others(191): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02818.hp2 others(8): Show HG01109.hp1 HG02486.hp1 HG02818.hp2 HG02970.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1 NA18981.hp2 NA18983.hp1 NA19084.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0001g0176 a0001c0001t0002g0010 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0176 a0001c0001t0002g0010 a0001c0001t0002g0144 a0001c0001t0002g0145	11	402	0.0274	-198	c.389 others(15): Show c.389-839_389-642del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TUNAR_chr14_95871832_95930571	95927696	CCTCTCCC others(191): Show CCTCTCCCTCTCCCTCCATCCCTCTCCCTCCGTCCCTCTCTCCCTCCCCC TTTCCCTCCGTCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTCTCTCCC TCTCCCTCCATCCCTCTCTCCCTCTCCCTCTCCCTCCGTCCCTCTCTCCC TCTCCCTCTCCCTCTGTCCCTCTCTCCCTCTCCCTCTCCCTCCGTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 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.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0042 a0001c0003t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0019 a0002c0002t0022 a0002c0002t0025 a0002c0002t0030 a0002c0002t0031 a0002c0002t0033 a0002c0002t0034 a0002c0002t0036 a0002c0002t0038 a0002c0002t0040 a0002c0002t0041 a0002c0002t0043 a0002c0002t0045	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(192): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0003g0055 a0001c0001t0008g0006 a0001c0001t0008g0011 a0001c0001t0008g0019 a0001c0001t0008g0050 a0001c0001t0008g0056 a0001c0001t0008g0114 a0001c0001t0008g0129 a0001c0001t0008g0130 a0001c0001t0009g0040 a0001c0001t0009g0231 a0001c0001t0009g0239 a0001c0001t0009g0241 a0001c0001t0009g0242 a0001c0001t0010g0247 a0001c0001t0010g0250 a0001c0001t0012g0163 a0001c0001t0013g0235 a0001c0001t0013g0236 a0001c0001t0013g0237 a0001c0001t0013g0240 a0001c0001t0018g0043 a0001c0001t0024g0097 a0001c0001t0027g0005 a0001c0001t0029g0140 a0001c0001t0042g0003 a0001c0003t0001g0005 a0002c0002t0001g0201 a0002c0002t0005g0021 a0002c0002t0005g0025 a0002c0002t0005g0065 a0002c0002t0005g0085 a0002c0002t0005g0120 a0002c0002t0005g0121 a0002c0002t0005g0127 a0002c0002t0005g0132 a0002c0002t0005g0135 a0002c0002t0005g0137 a0002c0002t0005g0143 a0002c0002t0005g0170 a0002c0002t0006g0014 a0002c0002t0006g0035 a0002c0002t0006g0037 a0002c0002t0006g0068 a0002c0002t0006g0078 a0002c0002t0006g0104 a0002c0002t0006g0185 a0002c0002t0006g0186 a0002c0002t0006g0197 a0002c0002t0007g0033 a0002c0002t0007g0095 a0002c0002t0007g0096 a0002c0002t0007g0113 a0002c0002t0007g0171 a0002c0002t0007g0176 a0002c0002t0007g0177 a0002c0002t0007g0178 a0002c0002t0007g0179 a0002c0002t0007g0184 a0002c0002t0007g0189 a0002c0002t0009g0041 a0002c0002t0009g0232 a0002c0002t0010g0041 a0002c0002t0010g0042 a0002c0002t0010g0248 a0002c0002t0010g0249 a0002c0002t0011g0002 a0002c0002t0011g0038 a0002c0002t0011g0047 a0002c0002t0011g0070 a0002c0002t0011g0128 a0002c0002t0011g0155 a0002c0002t0011g0218 a0002c0002t0012g0008 a0002c0002t0012g0107 a0002c0002t0015g0061 a0002c0002t0015g0077 a0002c0002t0015g0109 a0002c0002t0016g0213 a0002c0002t0016g0214 a0002c0002t0016g0225 a0002c0002t0017g0036 a0002c0002t0017g0202 a0002c0002t0019g0245 a0002c0002t0019g0246 a0002c0002t0022g0234 a0002c0002t0025g0089 a0002c0002t0030g0087 a0002c0002t0031g0175 a0002c0002t0033g0081 a0002c0002t0034g0207 a0002c0002t0036g0144 a0002c0002t0038g0141 a0002c0002t0040g0131 a0002c0002t0041g0009 a0002c0002t0043g0206 a0002c0002t0045g0251	244	338	0.7219	-198	c.47 others(11): Show c.4731_*4928del	TUNAR	ENSG00000250366.4	transcript	ENST00000503525.3	protein_coding		2126		chr14	TogoVar
TWIST2_chr2_238843085_238915534	238903850	NNNNNNNN others(191): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNT	N N	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	338	0.0030	-198	c.36 others(17): Show c.36-5992_*36-5795del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXK_chr4_48061393_48139250	48104343	ATAATATA others(191): Show ATAATATATAATATAATATATAATATATATAATATATAATATTATATATA ATATATATAATATATAATATTATATATAATATATATAATATATAATATTA TATATAATATATATAATATATAATATTATATATTATATATATAATATATA ATATTATATATTATATATATAATATATAATATTATATATTATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19056.hp1 NA19057.hp2 others(1): Show NA18973.hp2 NA19056.hp1 NA19057.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 others(1): Show a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075	4	362	0.0111	-198	c.501 others(15): Show c.501+360_501+557del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TYMS_chr18_652653_678578	666909	TGATGGTG others(191): Show TGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGAT GGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGG AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0052	1	482	0.0021	-198	c.455 others(17): Show c.455-2151_455-1954del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR27_chr6_169452212_169707029	169662632	AGGTAACA others(191): Show AGGTAACACCCAGCATGACGCGCATGCACCGCGGAGCATTCGGATCACGT GTCGAGGAAAGCACTAGGGTAACACCCAGCATGACGCGTGTGCACCGCGG AGTACTCAGATCACGTGTCAAGGAAAGCACTAAGGTAACACCCAGCATGA CGCGCGTGCACCGCGGAGCATTCGGATCACGTGTCGAGGAAAGCACTAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0253 a0004c0006t0006g0253	1	294	0.0034	-198	c.905 others(15): Show c.905-406_905-209del	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	8/25			chr6	TogoVar
WLS_chr1_68120360_68237523	68128842	CAGAGAGG others(191): Show CAGAGAGGCTAAGTAACTTGCCCAAGGCCCAAGCTGCTAAATAGTGTGTG GGATTCAAATAAATAGGTGCCAGGATGCAGGCTCTCAACTTTTGGGTTCT GCTGCCTCTTCTTAAATATTCAAGTTTCCAGCAGCCAGTGAGACTGCCAG TGAGGTATGAAGTCCACACACACAGCATTACAGCTAAAAATATCCGCAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18957.hp1 NA18970.hp2 others(7): Show HG01070.hp1 NA18957.hp1 NA18970.hp2 NA18974.hp1 NA18986.hp1 NA18988.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0065 others(7): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0117 a0001c0001t0001g0157 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0283 a0001c0001t0006g0017	10	334	0.0299	-198	c.151 others(19): Show c.1517-2705_1517-2508del	WLS	ENSG00000116729.14	transcript	ENST00000262348.9	protein_coding	11/11			chr1	TogoVar
ZIM2_chr19_56769547_56845726	56772631	TAAAAAAA others(191): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT TTGCCAGGCATGGTGACGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGACACTCCATCTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01993.hp1 HG02896.hp2 others(1): Show HG01168.hp2 HG01993.hp1 HG02896.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0205 a0001c0001t0003g0206 others(1): Show a0001c0001t0003g0023 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0232	4	370	0.0108	-198	c.18 others(11): Show c.1859_*2056del	ZIM2	ENSG00000269699.7	transcript	ENST00000629319.3	protein_coding		1915		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1235892	CCAGTGCT others(190): Show CCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAG CCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGA AGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAA ACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0001 a0002c0002t0007g0001	1	106	0.0094	-197	c.136 others(19): Show c.1362-2244_1362-2048del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGGF1_chr5_77025404_77070234	77042736	ACGGGGCG others(190): Show ACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGG CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGGC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02293.hp1 HG01993.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0105 a0001c0001t0004g0098 a0001c0001t0004g0105	2	438	0.0046	-197	c.870 others(17): Show c.870+3036_870+3232del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALLC_chr2_3653200_3707671	3704512	GGGGGGAG others(190): Show GGGGGGAGGGGCGTGGGGGAGGGGCATGGGGCAGAAACGGGTGTGGAGGA GGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGGAGGGG TGTGGAGAGGGGCGTGGGGGAGGGGTGTGGAGAGGGGCATGGGGGAGGGG TGTGGAGAGGGGCGTGGGGGGCGTGGGGAGGAGTGTAGGGGAGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	274	0.0037	-197	c.19 others(11): Show c.1950_*2146del	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		1842		chr2	TogoVar
AP3D1_chr19_2095988_2156566	2128475	CGCTCCGA others(190): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03490.hp1 HG03492.hp1 others(3): Show HG02300.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp2 NA18940.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0003 a0001c0003t0002 a0001c0005t0002 a0001c0001t0003 a0001c0003t0002 a0001c0005t0002	a0001c0001t0003g0355 a0001c0001t0003g0360 a0001c0001t0003g0364 others(3): Show a0001c0001t0003g0355 a0001c0001t0003g0360 a0001c0001t0003g0364 a0001c0003t0002g0197 a0001c0003t0002g0344 a0001c0005t0002g0033	6	406	0.0148	-197	c.806 others(15): Show c.806+418_806+614del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGEF10L_chr1_17534698_17702869	17683214	CCCCTGCT others(190): Show CCCCTGCTCTCACCCGGGTGCTCACTGCCCCCTGCTCTCACCCGGGTGCT CACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCCCCTGCTCTCACCCG GGTGCTCACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCCCCTGCTCT CACCGGGGTGCTCACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0137 a0002c0021t0002g0137	1	168	0.0060	-197	c.301 others(19): Show c.3010-4356_3010-4160del	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
BIRC6_chr2_32352023_32623878	32612368	TTTTCTGT others(190): Show TTTTCTGTCTACCCACGGAGATCTTTCTTTGTAACAGCCTTCCTTTTTTC CTGCATCTGAATGTCTTTACTCATTTCATCCTCCACCAATATCCTCCCTT TTCTATCTTCAGGTTTTTCCATTTCTACTGGCTTGTTATCTTCTAACTTT AAAGCTGTCTTCACTTCAAACAACTAGTTGATGATAAGGATTTGTTAG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0036 a0010c0036	a0010c0036t0003 a0010c0036t0003	a0010c0036t0003g0138 a0010c0036t0003g0138	1	274	0.0037	-197	c.143 others(19): Show c.14394+790_14394+986del	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	73/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BPHL_chr6_3113711_3158578	3145293	CCGAGTGC others(190): Show CCGAGTGCTGGTTCGGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGGTTC GGGGTGGAGTGCTGGTGTGGGTTGGAGTGCTGGTTCGGGGTGGAGTGCTG GTTCGGGTCCGAGTGCTGGTTCGGGTGGAGTGCTGGTTCAGGGTGGAGCG CTGGTTCGGGGTGGAGTGCTGGTTTGGGTTTGAATGCTGATTCGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03688.hp2 HG02698.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0187 a0001c0001t0001g0200	2	350	0.0057	-197	c.788 others(17): Show c.788+4785_788+4981del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6			chr6	TogoVar
BST1_chr4_15698065_15737787	15737590	CAAGTGAA others(190): Show CAAGTGAATGAACAATGCTAAGCATTTGACCAAAAGAGAAATGCACATGG AAGACCCCTGAGCACAAGGACTGGGTGGGCACATGAAGAACTGAGTTCTC TTTCCTCTCCTGTCGTAGGTACCAGGTACCTTACACTTGGCTGTATTCCC TCTAGCACGATAGACTTGGTAACAAGGTACTTTCTGAACCTGAACAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03130.hp1 HG02145.hp1 HG03130.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0320 a0001c0013t0001g0321 a0001c0013t0001g0320 a0001c0013t0001g0321	2	442	0.0045	-197	c.57 others(11): Show c.5746_*5942del	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding		4804		chr4	TogoVar
CAMTA1_chr1_6780454_7774706	7115443	ACCTGAGA others(190): Show ACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGAAAA CCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGAAAAA TCTAAGAACCAGGAGAGCTGATGATGTTGTTCCAGTCTGAATCTGAAAGC CTGAGACCCAGGAGAGCTGATGATGTTGTTCCAGTCTGAATCTGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02004.hp1 others(15): Show HG00558.hp1 HG00558.hp2 HG02004.hp1 HG02004.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02630.hp2 HG02723.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp1 NA19043.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0004 a0004c0014 a0006c0007 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0002t0003 a0001c0003t0023 a0001c0005t0009 a0001c0006t0005 a0002c0004t0011 a0002c0004t0017 a0002c0004t0018 a0004c0014t0001 a0006c0007t0014 a0007c0008t0007	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0002g0046 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0002g0046 a0001c0001t0003g0047 a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0012g0051 a0001c0001t0013g0054 a0001c0002t0003g0025 a0001c0003t0023g0045 a0001c0005t0009g0050 a0001c0006t0005g0057 a0002c0004t0011g0005 a0002c0004t0017g0042 a0002c0004t0018g0015 a0004c0014t0001g0041 a0006c0007t0014g0018 a0007c0008t0007g0023	18	58	0.3103	-197	c.302 others(19): Show c.302+24096_302+24292del	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCL17_chr16_57399767_57421063	57403136	ATTATTAT others(190): Show ATTATTATCTATAATATATATAATATATATTATTATCTATAATATATATA ATATATATTATTATCTATAATATATATAATATATATTATTATCTATAATA TATATAATATATATTATTATCTATAATATATATAATATATATTATTATCT ATAATATATATAATATATATTATTATCTATAATATATATAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01123.hp1 HG01175.hp2 others(3): Show HG00099.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01952.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0013 a0001c0001t0001g0065	6	388	0.0155	-197	c.-17 others(11): Show c.-1759_-1563del	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1630		chr16	TogoVar
CCL17_chr16_57399767_57421063	57403165	TTATTATC others(190): Show TTATTATCTATAATATATATAATATATATTATTATCTATAATATATATAA TATATATTATTATCTATAATATATATAATATATATTATTATCTATAATAT ATATAATATATATTATTATCTATAATATATATAATATATATTATTATCTA TAATATATATAATATATATTATTATCTATAATATATATAATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG02135.hp1 others(20): Show HG00609.hp1 HG00673.hp2 HG02135.hp1 HG02523.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG04115.hp2 NA18940.hp1 NA18947.hp2 NA18954.hp2 NA18961.hp2 NA18977.hp1 NA18982.hp2 NA18994.hp1 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19057.hp2 NA19080.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0025 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0064 a0001c0004t0001g0009	23	388	0.0593	-197	c.-17 others(11): Show c.-1730_-1534del	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1601		chr16	TogoVar
CRACD_chr4_56044098_56335609	56057799	ATTTTTTT others(190): Show ATTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTGTATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00642.hp2 others(104): Show HG00323.hp2 HG00544.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 NA18522.hp2 NA18906.hp2 NA18968.hp2 NA18971.hp1 NA18978.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp2 NA19082.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0020 a0024 a0026 a0027 a0029 a0030	a0001c0001 a0002c0003 a0002c0006 others(27): Show a0001c0001 a0002c0003 a0002c0006 a0002c0008 a0002c0045 a0003c0002 a0003c0007 a0004c0004 a0005c0005 a0005c0026 a0006c0009 a0006c0016 a0007c0018 a0007c0038 a0007c0039 a0008c0010 a0009c0015 a0010c0028 a0011c0011 a0012c0020 a0013c0017 a0014c0012 a0015c0013 a0016c0019 a0020c0025 a0024c0037 a0026c0041 a0027c0033 a0029c0029 a0030c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0020 a0001c0001t0029 a0001c0001t0034 a0002c0003t0001 a0002c0003t0015 a0002c0006t0001 a0002c0008t0002 a0002c0045t0001 a0003c0002t0002 a0003c0002t0031 a0003c0002t0035 a0003c0007t0001 a0003c0007t0005 a0003c0007t0011 a0004c0004t0004 a0005c0005t0007 a0005c0005t0019 a0005c0005t0022 a0005c0026t0013 a0006c0009t0003 a0006c0016t0003 a0007c0018t0003 a0007c0038t0002 a0007c0039t0003 a0008c0010t0008 a0009c0015t0006 a0010c0028t0013 a0011c0011t0009 a0012c0020t0002 a0013c0017t0006 a0014c0012t0010 a0015c0013t0005 a0016c0019t0011 a0016c0019t0018 a0020c0025t0006 a0024c0037t0001 a0026c0041t0003 a0027c0033t0006 a0029c0029t0024 a0030c0027t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0031 others(104): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0022 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0243 a0001c0001t0004g0042 a0001c0001t0004g0057 a0001c0001t0005g0021 a0001c0001t0005g0075 a0001c0001t0005g0108 a0001c0001t0012g0056 a0001c0001t0020g0040 a0001c0001t0029g0098 a0001c0001t0034g0090 a0002c0003t0001g0027 a0002c0003t0001g0029 a0002c0003t0001g0036 a0002c0003t0001g0043 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0065 a0002c0003t0001g0071 a0002c0003t0001g0089 a0002c0003t0001g0110 a0002c0003t0001g0124 a0002c0003t0015g0060 a0002c0006t0001g0018 a0002c0006t0001g0020 a0002c0006t0001g0032 a0002c0006t0001g0240 a0002c0006t0001g0244 a0002c0006t0001g0247 a0002c0008t0002g0046 a0002c0008t0002g0068 a0002c0045t0001g0028 a0003c0002t0002g0005 a0003c0002t0002g0008 a0003c0002t0002g0010 a0003c0002t0002g0053 a0003c0002t0002g0067 a0003c0002t0002g0070 a0003c0002t0002g0088 a0003c0002t0002g0093 a0003c0002t0002g0101 a0003c0002t0002g0103 a0003c0002t0002g0106 a0003c0002t0002g0111 a0003c0002t0002g0246 a0003c0002t0031g0069 a0003c0002t0035g0091 a0003c0007t0001g0026 a0003c0007t0001g0242 a0003c0007t0005g0035 a0003c0007t0011g0050 a0004c0004t0004g0064 a0004c0004t0004g0066 a0004c0004t0004g0072 a0004c0004t0004g0073 a0005c0005t0007g0024 a0005c0005t0007g0030 a0005c0005t0007g0044 a0005c0005t0007g0055 a0005c0005t0019g0017 a0005c0005t0022g0059 a0005c0026t0013g0095 a0006c0009t0003g0003 a0006c0009t0003g0048 a0006c0009t0003g0113 a0006c0016t0003g0033 a0007c0018t0003g0097 a0007c0018t0003g0239 a0007c0038t0002g0099 a0007c0039t0003g0245 a0008c0010t0008g0094 a0009c0015t0006g0058 a0010c0028t0013g0109 a0011c0011t0009g0004 a0011c0011t0009g0025 a0011c0011t0009g0052 a0012c0020t0002g0034 a0012c0020t0002g0096 a0013c0017t0006g0019 a0014c0012t0010g0016 a0015c0013t0005g0100 a0016c0019t0011g0041 a0016c0019t0018g0038 a0020c0025t0006g0045 a0024c0037t0001g0104 a0026c0041t0003g0092 a0027c0033t0006g0241 a0029c0029t0024g0074 a0030c0027t0001g0007	107	250	0.4280	-197	c.-33 others(19): Show c.-336+8506_-336+8702del	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCDC2C_chr2_3698575_3853008	3704512	GGGGGGAG others(190): Show GGGGGGAGGGGCGTGGGGGAGGGGCATGGGGCAGAAACGGGTGTGGAGGA GGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGGAGGGG TGTGGAGAGGGGCGTGGGGGAGGGGTGTGGAGAGGGGCATGGGGGAGGGG TGTGGAGAGGGGCGTGGGGGGCGTGGGGAGGAGTGTAGGGGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0013 a0005c0014t0013	a0005c0014t0013g0241 a0005c0014t0013g0241	1	324	0.0031	-197	c.287 others(15): Show c.287+480_287+676del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51775110	TGTATTCT others(190): Show TGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA CAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTACTA CATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00639.hp2 others(16): Show HG00323.hp2 HG00558.hp2 HG00639.hp2 HG01081.hp1 HG01978.hp1 HG02055.hp2 HG02293.hp2 HG03017.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG04228.hp1 NA18968.hp2 NA18979.hp2 NA18984.hp2 NA18993.hp1 NA18999.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0001 a0003c0003t0005	a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0272 others(13): Show a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0272 a0003c0003t0001g0016 a0003c0003t0001g0046 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0220 a0003c0003t0001g0236 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0316 a0003c0003t0001g0327 a0003c0003t0005g0241 a0003c0003t0005g0242 a0003c0003t0005g0243	19	420	0.0452	-197	c.364 others(17): Show c.364-1273_364-1077del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	489815	CGGGGCTT others(190): Show CGGGGCTTCCTCCACCTTCACACTAGGGACACGGTGGCTCTGACAGTGCC CGGGGCTTCCTCCATTTCACACCAGGGACATGGTGGCTCTGACGGTGCCT GGTCCTTCCTCCATTTCACACCAGGGACACGGTGGCTCTGACAGTGCCCG AGCCTTCCTCCATTTCACACCAGGGACACGGTGGCTCTGACGGTGCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00738.hp1 others(24): Show HG00597.hp2 HG00621.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02602.hp2 HG02809.hp2 HG03453.hp1 HG03834.hp1 HG03942.hp2 NA18747.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0005t0002 a0001c0008t0001 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001 a0001c0019t0006	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0033 others(24): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0003g0012 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0003t0002g0021 a0001c0003t0002g0037 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0087 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0019t0006g0014	27	88	0.3068	-197	c.86- others(15): Show c.86-3482_86-3286del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DKC1_chrX_154757864_154782689	154780559	CAGGTGGT others(190): Show CAGGTGGTTGGCGGTCCCTGTCCAAATTCTAAGTGTGTGTGCTCTTGGAC CCAGTGATCCTACTTGGAGTTTTTCCTACAGATATATTTGCACACATGTG CTATATGCACAGGGCTATTGACTGCAGTATTACACATGCATGCAGCAGAA GACCAAGCAGCTATAGAGAAAAAGAGTTCCTCACACCCTGATAGGGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG03486.hp1 HG02922.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0102 a0001c0001t0004g0031 a0001c0001t0004g0102	3	289	0.0104	-197	c.36 others(11): Show c.3693_*3889del	DKC1	ENSG00000130826.19	transcript	ENST00000369550.10	protein_coding		2871		chrX	TogoVar
DLGAP2_chr8_732628_1713476	1016931	AGACGATG others(190): Show AGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGAC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-197	c.73+ others(19): Show c.73+108970_73+109166del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EZH2_chr7_148802383_148889291	148866673	TGTACGTA others(190): Show TGTACGTATATGCATATATATATACATATATGCATATATATATATATTTA TTCCTTTTGTGAGACAGGGTCTCACTCTGTTGCCTGGGCTAGAGGGCAGT GGCGTAATTCTGTCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTC TCCCACCTCAGCCTTCCAAGTAGCTGAGACTACAGGTGCACATCAACG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0264 a0001c0006t0002g0264	1	380	0.0026	-197	c.-8+ others(17): Show c.-8+17294_-8+17490del	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
FAM117B_chr2_202629969_202774757	202770549	AAACTCCT others(190): Show AAACTCCTGGCCTCAAGTGATCCTCCCACCTCTGCCTCCCAAAGTGCTGG ACTCAAGGGATCCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACCACAGGT ATGTGCCACCATGCCTGGCTAATTTTTATATGAATTTATTTAATTTTTTT TTTTTTTCGTAGAAACAAGGTCTTGCCACACTGCTTAGGCTGGTCTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18522.hp2 NA19240.hp2 HG02965.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0251 a0001c0001t0006g0250 a0001c0001t0007g0255 a0001c0001t0001g0251 a0001c0001t0006g0250 a0001c0001t0007g0255	3	318	0.0094	-197	c.47 others(11): Show c.4786_*4982del	FAM117B	ENSG00000138439.12	transcript	ENST00000392238.3	protein_coding		793		chr2	TogoVar
FER_chr5_108742897_109201841	108969616	TGAACACT others(190): Show TGAACACTGTGAATGTATTACCTATTCAAAAGGTAAGATTAAGAAATATT GAAAACATGGCACCTGTCCTCAAGCAAATATAAATTTTTAGGATGATGCT TTATTGAGAAATTATTGATAAGAAGACAAAATATTCATGCTATATATTGT TAAAGTAGGAAAAGCAGTTTATAAAATAGCATTATGGTATTTATCTGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0057 a0003c0009t0002g0057	1	138	0.0073	-197	c.165 others(21): Show c.1656+10270_1656+10466del	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	13/19			chr5	TogoVar
FLT3_chr13_27998274_28105576	27998762	TTATATAT others(190): Show TTATATATAAATATATGTTATATATACATAAATATATGTTATATATATTT ATATATATTTATATACATATAAATATATATATTTATATACATATATAAAA ATATATATATATTTATATATAAATATATGTTATATATATTTATATACATA TAAATATATATTTATATACATATAAATATATATTTATATACATATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0001 a0016c0027t0001	a0016c0027t0001g0157 a0016c0027t0001g0157	1	292	0.0034	-197	c.50 others(11): Show c.5093_*5289del	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4511		chr13	TogoVar
GOLGA3_chr12_132763914_132833869	132787686	GGGACCCC others(190): Show GGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACC CCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCC CGGAGACCACGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGA CCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCTTCCCGAGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0064 a0005c0006t0064	a0005c0006t0064g0022 a0005c0006t0064g0022	1	308	0.0033	-197	c.281 others(18): Show c.2812-1096_2812-900del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar

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