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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRKCZ_chr1_2045411_2190395	2122618	CGGTGGTG others(167): Show CGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGT GGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTCGT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	286	0.0035	-174	c.335 others(19): Show c.335-12641_335-12468del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122621	TGGTGGTT others(167): Show TGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGT TAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTA GGGTTGTGGTGGTTAGGGTCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01109.hp1 others(16): Show HG00140.hp1 HG00738.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01496.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp2 HG02683.hp2 HG03654.hp1 NA18964.hp2 NA19011.hp2 NA19074.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004	a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0197 others(16): Show a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0197 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0219 a0001c0002t0001g0229 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0127 a0001c0003t0001g0259 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0004g0129	19	286	0.0664	-174	c.335 others(19): Show c.335-12628_335-12455del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	TATACTGC others(167): Show TATACTGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATT GGTACAATAATACTGCACCAATTATCATTGGTACAATAATACTGCACCAA TTATCATTGGTACAATAATACTGCACCAATTATCATTGGTACAATAATAC TGCACCAATTATCATTGGTACAATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp1 HG02071.hp2 others(6): Show HG01496.hp1 HG02040.hp1 HG02071.hp2 HG02698.hp1 HG03041.hp2 HG03491.hp1 NA18943.hp1 NA18955.hp1 NA19065.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0029 a0038	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0029c0043 a0038c0052	a0001c0001t0027 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0027 a0002c0002t0001 a0002c0002t0002 a0003c0003t0028 a0029c0043t0001 a0038c0052t0002	a0001c0001t0027g0026 a0002c0002t0001g0059 a0002c0002t0001g0073 others(6): Show a0001c0001t0027g0026 a0002c0002t0001g0059 a0002c0002t0001g0073 a0002c0002t0001g0122 a0002c0002t0001g0211 a0002c0002t0002g0136 a0003c0003t0028g0050 a0029c0043t0001g0204 a0038c0052t0002g0097	9	240	0.0375	-174	c.756 others(19): Show c.756+32250_756+32423del		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18						chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76791457	CATTGGTA others(167): Show CATTGGTACAATAATACTGCACCAATTATCATTGGTACAATAATACTGCA CCAATTATCATTGGTACAATAATACTGCACCAATTATCATTGGTACAATA ATACTGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATTG GTACAATAATACTGCACCAATTATT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0003 a0012c0014t0003	a0012c0014t0003g0105 a0012c0014t0003g0105	1	240	0.0042	-174	c.756 others(19): Show c.756+32001_756+32174del		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18						chr9	TogoVar
PSMD5_chr9_120811053_120847922	120840537	TCAGGTTC others(167): Show TCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAACTAGCTGGGACTAC AGGTGTGCGCTACCAAGCCCAGCTAATTTTTGCTTTTTTTTTTTTTTTTT TGAGACGGAATCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGAGCGATC TCGTCTCACCGCAACCTCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	356	0.0028	-174	c.173 others(17): Show c.173+2026_173+2199del		PSMD5	ENSG00000095261.14	transcript	ENST00000210313.8	protein_coding	1/9						chr9	TogoVar
PTPRT_chr20_42067756_43194906	42508963	AGATATAA others(167): Show AGATATAAATTATATAATTTATATTTAATTTATAGATATAAATTATATAA TTTATATTTAATTTATAGATATAAATTATATAATTTATATTTAATTTATA GATATAAATCATATAATTTATATTTAATTTATAGATATAAATTATATAAT TTATATTTAATTTATAGATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0045 a0001c0022t0021g0045	1	62	0.0161	-174	c.115 others(21): Show c.1154-36575_1154-36402del		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PVALB_chr22_36795703_36822035	36800003	TCCATCCA others(167): Show TCCATCCATCCATCCCCCCACCCATCCACCCATTCATCCATCGTCCATTC ACCCACCCATCCATCCATTTACCCATCTGCCCACCCATCTACTCACCCAT CCATCTATCCATCTATCCACCCACCCATCCACCCACCCATTCATCTACCC ACCCATCCATCCATCCATTCATCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	421	0.0024	-174	c.71 others(9): Show c.713_*886del		PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding					699		chr22	TogoVar
RAB40C_chr16_585066_634268	611902	CACGGGAC others(167): Show CACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCC TGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCCTGGCCTGTAGAATCA AGAGCAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCC GCCCTGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01074.hp1 others(15): Show HG00438.hp2 HG00733.hp2 HG01074.hp1 HG01123.hp2 HG02083.hp2 HG02129.hp1 HG02738.hp2 HG02818.hp1 HG04204.hp1 NA18612.hp2 NA18967.hp1 NA18975.hp2 NA18983.hp1 NA18984.hp1 NA18994.hp2 NA19002.hp2 NA19007.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0017 others(15): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0299 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0318 a0001c0001t0002g0319	18	350	0.0514	-174	c.143 others(17): Show c.143-5304_143-5131del		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	612520	CACGGGAC others(167): Show CACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCC CTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCA AGAGCAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCT GCCCTGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	350	0.0029	-174	c.143 others(17): Show c.143-4686_143-4513del		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
RGPD3_chr2_106398406_106473413	106467455	CTCAACAG others(167): Show CTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTG AGCCATCGAGGCCGCCGCTGGGCCGGGTTGAGGCCGCCGCCTCAACAGAG CGTGCCAGGGAGCAGCGCCCGTCGGGAGCCATGATGCCTGAGCCATCAAG GCAGCCGCCGGGCCGGGTCGAGGCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0029 a0018c0021t0029	a0018c0021t0029g0253 a0018c0021t0029g0253	1	382	0.0026	-174	c.72+ others(13): Show c.72+588_72+761del		RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22						chr2	TogoVar
RGSL1_chr1_182445146_182565597	182509309	CAGGGGGC others(167): Show CAGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0327 a0001c0005t0001g0327	1	338	0.0030	-174	c.182 others(21): Show c.1826-12694_1826-12521del		RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21						chr1	TogoVar
RNF213_chr17_80255852_80403794	80313875	ATGGTGGA others(167): Show ATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTAC TGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATG GTGGTGGTGGTGGTGATGGTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG02723.hp2 HG02922.hp2	a0038 a0039 a0038 a0039	a0038c0146 a0039c0147 a0038c0146 a0039c0147	a0038c0146t0048 a0039c0147t0045 a0038c0146t0048 a0039c0147t0045	a0038c0146t0048g0172 a0039c0147t0045g0175 a0038c0146t0048g0172 a0039c0147t0045g0175	2	292	0.0069	-174	c.281 others(17): Show c.2811+720_2811+893del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80313887	CTGGAGGT others(167): Show CTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAAT GGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGG TGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTG GTGATGGTGGAGGTGGTGGAGGTAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03139.hp2 NA18970.hp2 others(1): Show HG00597.hp1 HG03139.hp2 NA18970.hp2 NA19066.hp2	a0019 a0043 a0062 a0019 a0043 a0062	a0019c0141 a0019c0142 a0043c0101 others(1): Show a0019c0141 a0019c0142 a0043c0101 a0062c0055	a0019c0141t0001 a0019c0142t0030 a0043c0101t0003 others(1): Show a0019c0141t0001 a0019c0142t0030 a0043c0101t0003 a0062c0055t0005	a0019c0141t0001g0176 a0019c0142t0030g0178 a0043c0101t0003g0061 others(1): Show a0019c0141t0001g0176 a0019c0142t0030g0178 a0043c0101t0003g0061 a0062c0055t0005g0076	4	292	0.0137	-174	c.281 others(17): Show c.2811+742_2811+915del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314335	TGGTGGTG others(167): Show TGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATG GTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGT GATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTAC TGGAGGTGATGGTGGTGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0124 a0001c0124	a0001c0124t0002 a0001c0124t0002	a0001c0124t0002g0068 a0001c0124t0002g0068	1	292	0.0034	-174	c.281 others(19): Show c.2811+1172_2811+1345del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314862	GAGGTAAT others(167): Show GAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGA GGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGAGGTGATGGTGG TCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAG GTACTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0059 a0009c0016t0059	a0009c0016t0059g0098 a0009c0016t0059g0098	1	292	0.0034	-174	c.281 others(19): Show c.2811+1700_2811+1873del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
S1PR4_chr19_3173769_3185332	3174969	GCCTGTGT others(167): Show GCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCCCT CATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCT GTGCCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATG GGACGCCTGTGCCCCTCATGGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01123.hp1 others(7): Show HG00735.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01361.hp2 HG01515.hp1 HG02738.hp2 HG03704.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	10	418	0.0239	-174	c.-38 others(11): Show c.-3823_-3650del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					3799		chr19	TogoVar
SCN9A_chr2_166190185_166380944	166201479	GTATACTA others(167): Show GTATACTATATATATAGTATAGAGTATGCGTATACTATATATATAGTATA GAGTATGCGTATACTATATATATAGTATAGAGTATGCGTATACTATATAT ATAGTATAGAGTATGCGTATACTATATATATAGTATAGAGTATGCGTATA CTATATATATAGTATAGAGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG06807.hp1 others(1): Show HG01106.hp2 HG01891.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0083 a0001c0002t0001g0196 a0001c0002t0001g0200 others(1): Show a0001c0001t0001g0083 a0001c0002t0001g0196 a0001c0002t0001g0200 a0001c0003t0001g0224	4	296	0.0135	-174	c.477 others(19): Show c.4775-1789_4775-1616del		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26						chr2	TogoVar
SDF4_chr1_1211931_1237001	1227292	GGCGGGAA others(167): Show GGCGGGAAGGCGAGCTCGTGGCCAGGCCCTGCGGGAAGGCGAGCTCGTGG CCAGGCCCGGCGGGAAGGCGAGCTCGTGGCCAGGCCCGGCGGGAAGGCGA GCTCGTGGCCAGGCCCGGCGGGAAGGCGAGCTCGTGGCCAGGCCCTGCGG GAAGGCGAGCTCGTGGCCAGGCCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(53): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02523.hp2 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03831.hp2 NA18747.hp1 NA18940.hp2 NA18951.hp2 NA18955.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19081.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0002c0005 others(2): Show a0001c0001 a0002c0004 a0002c0005 a0002c0011 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0002c0004t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0005 a0002c0004t0022 a0002c0005t0005 a0002c0011t0005 a0003c0009t0005	a0001c0001t0001g0016 a0001c0001t0001g0070 a0001c0001t0001g0074 others(39): Show a0001c0001t0001g0016 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0186 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0093 a0002c0004t0005g0028 a0002c0004t0005g0063 a0002c0004t0005g0064 a0002c0004t0005g0065 a0002c0004t0005g0066 a0002c0004t0005g0067 a0002c0004t0022g0062 a0002c0005t0005g0090 a0002c0005t0005g0091 a0002c0011t0005g0089 a0003c0009t0005g0068	56	400	0.1400	-174	c.305 others(17): Show c.305+1002_305+1175del		SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding	2/6						chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070374	GGCATCAC others(167): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0031 a0002c0011t0002g0031	1	118	0.0085	-174	c.224 others(19): Show c.2241+3085_2241+3258del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SORCS3_chr10_104636290_105270242	105091281	TTGCTTCC others(167): Show TTGCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTT GCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCTTCGTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03017.hp2 HG01243.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0099 a0001c0001t0002g0025 a0001c0001t0002g0099	2	134	0.0149	-174	c.109 others(19): Show c.1093+1444_1093+1617del		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SWAP70_chr11_9659077_9757993	9706078	CTGGTGAT others(167): Show CTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TATACACTGGTGATCTGTGTATACT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02976.hp1 others(3): Show HG01243.hp2 HG02630.hp2 HG02976.hp1 HG03834.hp1 HG04199.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0003t0009 a0001c0002t0002 a0001c0003t0003 a0001c0003t0009	a0001c0002t0002g0128 a0001c0003t0003g0007 a0001c0003t0003g0045 others(3): Show a0001c0002t0002g0128 a0001c0003t0003g0007 a0001c0003t0003g0045 a0001c0003t0003g0213 a0001c0003t0009g0193 a0001c0003t0009g0194	6	294	0.0204	-174	c.241 others(17): Show c.241-7272_241-7099del		SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
TBCD_chr17_82747065_82950914	82925903	TGGCCGTG others(167): Show TGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCTTCCTGGGT TGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCT TCCTGGGTTGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCG GGTGTCCTTCCTGGGTTGTACTGGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0019 a0021	a0001c0001 a0001c0002 a0001c0009 others(30): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0017 a0001c0028 a0001c0035 a0001c0037 a0001c0041 a0002c0003 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0012 a0002c0025 a0002c0040 a0002c0043 a0003c0004 a0003c0018 a0003c0047 a0004c0005 a0005c0013 a0006c0016 a0010c0033 a0011c0032 a0012c0020 a0014c0021 a0015c0022 a0016c0019 a0017c0036 a0019c0038 a0021c0046	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(57): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0029 a0001c0002t0040 a0001c0009t0008 a0001c0009t0014 a0001c0014t0001 a0001c0017t0003 a0001c0028t0002 a0001c0035t0014 a0001c0037t0002 a0001c0041t0003 a0002c0003t0003 a0002c0003t0018 a0002c0003t0039 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0006t0021 a0002c0007t0004 a0002c0007t0011 a0002c0007t0020 a0002c0007t0023 a0002c0007t0033 a0002c0010t0009 a0002c0010t0038 a0002c0011t0002 a0002c0011t0012 a0002c0012t0008 a0002c0025t0002 a0002c0040t0003 a0002c0043t0036 a0003c0004t0004 a0003c0004t0013 a0003c0004t0032 a0003c0018t0024 a0003c0047t0003 a0004c0005t0001 a0005c0013t0011 a0006c0016t0001 a0010c0033t0006 a0011c0032t0001 a0012c0020t0003 a0014c0021t0009 a0015c0022t0005 a0016c0019t0002 a0017c0036t0003 a0019c0038t0005 a0021c0046t0011	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(184): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0130 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0002g0309 a0001c0001t0003g0096 a0001c0001t0006g0011 a0001c0001t0006g0024 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0006g0068 a0001c0001t0006g0077 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0016g0017 a0001c0001t0016g0020 a0001c0001t0016g0104 a0001c0001t0026g0287 a0001c0001t0027g0051 a0001c0001t0028g0213 a0001c0001t0041g0027 a0001c0001t0042g0018 a0001c0001t0043g0081 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0002g0025 a0001c0002t0002g0031 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0098 a0001c0002t0002g0105 a0001c0002t0010g0085 a0001c0002t0029g0256 a0001c0002t0040g0254 a0001c0009t0008g0086 a0001c0009t0008g0095 a0001c0009t0014g0118 a0001c0009t0014g0129 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0014t0001g0290 a0001c0017t0003g0057 a0001c0028t0002g0042 a0001c0035t0014g0117 a0001c0037t0002g0070 a0001c0041t0003g0133 a0002c0003t0003g0006 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0211 a0002c0003t0003g0212 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0230 a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0293 a0002c0003t0003g0298 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0306 a0002c0003t0003g0310 a0002c0003t0003g0312 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0003t0039g0206 a0002c0006t0003g0313 a0002c0006t0005g0108 a0002c0006t0005g0112 a0002c0006t0005g0215 a0002c0006t0005g0250 a0002c0006t0005g0283 a0002c0006t0005g0311 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0007t0004g0013 a0002c0007t0004g0278 a0002c0007t0011g0237 a0002c0007t0020g0045 a0002c0007t0020g0138 a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0007t0033g0136 a0002c0010t0009g0142 a0002c0010t0009g0143 a0002c0010t0009g0144 a0002c0010t0009g0145 a0002c0010t0009g0166 a0002c0010t0038g0291 a0002c0011t0002g0002 a0002c0011t0012g0164 a0002c0011t0012g0165 a0002c0012t0008g0160 a0002c0012t0008g0162 a0002c0012t0008g0170 a0002c0012t0008g0171 a0002c0025t0002g0131 a0002c0040t0003g0307 a0002c0043t0036g0001 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0181 a0003c0004t0004g0182 a0003c0004t0004g0185 a0003c0004t0004g0186 a0003c0004t0004g0190 a0003c0004t0004g0194 a0003c0004t0004g0200 a0003c0004t0004g0201 a0003c0004t0013g0175 a0003c0004t0013g0184 a0003c0004t0013g0193 a0003c0004t0013g0199 a0003c0004t0032g0183 a0003c0018t0024g0195 a0003c0047t0003g0177 a0004c0005t0001g0014 a0004c0005t0001g0111 a0004c0005t0001g0119 a0004c0005t0001g0122 a0004c0005t0001g0128 a0005c0013t0011g0234 a0005c0013t0011g0235 a0005c0013t0011g0238 a0006c0016t0001g0257 a0006c0016t0001g0318 a0010c0033t0006g0090 a0011c0032t0001g0097 a0012c0020t0003g0207 a0014c0021t0009g0272 a0015c0022t0005g0284 a0016c0019t0002g0169 a0017c0036t0003g0305 a0019c0038t0005g0120 a0021c0046t0011g0233	187	318	0.5881	-174	c.238 others(17): Show c.2380-442_2380-269del		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82925958	TGGGGGCC others(167): Show TGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCTTCCTG GGTTGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGT CCTTCCTGGGTTGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCC CCGGGTGTCCTTCCTGGGTTGTACC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0188 a0003c0004t0004g0188	1	318	0.0031	-174	c.238 others(17): Show c.2380-414_2380-241del		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82925987	TCTCCCCG others(167): Show TCTCCCCGGGTGTCCTTCCTGGGTTGTACTGGGGGCCGTGGAGAGGCTGG AGGTGACCTCTCCCCGGGTGTCCTTCCTGGGTTGTACTGGGGGCCGTGGA GAGGCTGGAGGTGACCTCTCCCCGGGTGTCCTTCCTGGGTTGTACCGGGG GCCGTGGAGAGGCTGGAGGTGACTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03704.hp1 HG04115.hp2 HG03225.hp1 HG03704.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0031 a0002c0007 a0001c0002 a0001c0031 a0002c0007	a0001c0002t0001 a0001c0031t0002 a0002c0007t0005 a0001c0002t0001 a0001c0031t0002 a0002c0007t0005	a0001c0002t0001g0242 a0001c0031t0002g0075 a0002c0007t0005g0155 a0001c0002t0001g0242 a0001c0031t0002g0075 a0002c0007t0005g0155	3	318	0.0094	-174	c.238 others(17): Show c.2380-326_2380-153del		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82926082	GTGGAGAG others(167): Show GTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCTTCCTGGGTTGTAC CGGGGGCCGTGGAGAGGCTGGAGGTGACTCCTCCCCGGGTGTCCTTCCTG GGTTGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGT CCTTCCTGGGTTGTACCAGGGGCCA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18967.hp2 NA19009.hp2 others(4): Show NA18942.hp1 NA18967.hp2 NA19009.hp2 NA19012.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0001c0002t0030 a0004c0005t0001 a0001c0002t0001 a0001c0002t0030 a0004c0005t0001	a0001c0002t0001g0241 a0001c0002t0001g0252 a0001c0002t0001g0255 others(4): Show a0001c0002t0001g0241 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0030g0244 a0004c0005t0001g0109	7	318	0.0220	-174	c.238 others(17): Show c.2380-313_2380-140del		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TMPRSS15_chr21_18264116_18408785	18315496	TATATATA others(167): Show TATATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCTCAAGGTG GAGCTAGCTTTGATACTGAGTAAATGACGAGTTAGTGGGTGCAGCACACC AACATGGCACATGTATACACATATAACAAACCTGCACGTTGTGCACATGT ACCGTAGAACTTAAAGTATAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG01257.hp2 others(44): Show HG00408.hp1 HG01081.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02074.hp2 HG02145.hp1 HG02602.hp1 HG02809.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18953.hp1 NA18957.hp1 NA18966.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA19004.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19079.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0029 a0033 a0039	a0001c0001 a0001c0006 a0001c0007 others(10): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0003c0003 a0003c0031 a0004c0005 a0005c0004 a0005c0019 a0006c0010 a0029c0057 a0033c0064 a0039c0039	a0001c0001t0001 a0001c0006t0001 a0001c0007t0002 others(10): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0002 a0002c0002t0001 a0003c0003t0001 a0003c0031t0001 a0004c0005t0001 a0005c0004t0001 a0005c0019t0001 a0006c0010t0001 a0029c0057t0001 a0033c0064t0002 a0039c0039t0008	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0148 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0285 a0001c0006t0001g0050 a0001c0006t0001g0235 a0001c0006t0001g0302 a0001c0007t0002g0263 a0002c0002t0001g0014 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0069 a0002c0002t0001g0077 a0002c0002t0001g0221 a0002c0002t0001g0229 a0002c0002t0001g0269 a0003c0003t0001g0107 a0003c0003t0001g0116 a0003c0003t0001g0119 a0003c0003t0001g0138 a0003c0003t0001g0151 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0031t0001g0070 a0004c0005t0001g0179 a0005c0004t0001g0009 a0005c0004t0001g0115 a0005c0019t0001g0124 a0006c0010t0001g0186 a0029c0057t0001g0297 a0033c0064t0002g0082 a0039c0039t0008g0310	47	314	0.1497	-174	c.192 others(17): Show c.1922-414_1922-241del		TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24						chr21	TogoVar
TRAPPC9_chr8_139722725_140462744	140457920	AGGAGGAG others(167): Show AGGAGGAGGAGGGAGGAGGGAGAGAAAAAGGTGGGGTGAAAGAAGGAGGG AGGAGGAGCGAGGGAGAGAAGCGGGGACGGGGAGGGAGGAGGAGGAGAGT AGGAGGAGGAGGGGTGAAAGAAGGAGGGAGGGGCAGCGAGAGAGAGAAGC GGGGGACAGGGAGAGGGTGGAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01070.hp1 others(9): Show HG00735.hp2 HG00738.hp1 HG01070.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG04115.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0029 a0001c0003t0001 a0001c0004t0001 others(5): Show a0001c0001t0029 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0004t0010 a0001c0004t0033 a0001c0005t0008 a0001c0013t0001	a0001c0001t0029g0077 a0001c0003t0001g0052 a0001c0004t0001g0085 others(9): Show a0001c0001t0029g0077 a0001c0003t0001g0052 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0088 a0001c0004t0001g0097 a0001c0004t0004g0087 a0001c0004t0010g0089 a0001c0004t0010g0090 a0001c0004t0033g0084 a0001c0005t0008g0076 a0001c0013t0001g0095	12	98	0.1225	-174	c.-46 others(9): Show c.-466_-293del		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding					177		chr8	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(167): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18942.hp2 NA18974.hp1 NA18942.hp2 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0160 a0002c0002t0001g0067 a0002c0002t0001g0160	2	322	0.0062	-174	c.735 others(11): Show c.735-142_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733			chr16	TogoVar
UNKL_chr16_1358205_1419704	1397342	GCCCCCCA others(167): Show GCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATG AGGAGGTGTCAGGAGGACACAGAGGACTTGGCTCCCTGCCCCCCACCCCC GTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGG AGGACACAGAGGACTTGGCTCCCCC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0183 a0001c0001t0017g0183	1	322	0.0031	-174	c.735 others(14): Show c.735-221_735-48del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397377	GTGGACCT others(167): Show GTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTCC CTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGA TGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTCCCCCACCCCGACCC CCGTGCTTCACGCTGGGGCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00735.hp2 others(43): Show HG00438.hp1 HG00544.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp2 HG01934.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03688.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA19054.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0001 a0001c0004 a0001c0027 others(2): Show a0001c0001 a0001c0004 a0001c0027 a0006c0018 a0013c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0038 a0001c0001t0042 a0001c0001t0052 a0001c0001t0061 a0001c0001t0065 a0001c0004t0001 a0001c0004t0036 a0001c0004t0045 a0001c0027t0019 a0006c0018t0001 a0013c0029t0002	a0001c0001t0001g0016 a0001c0001t0001g0073 a0001c0001t0001g0083 others(43): Show a0001c0001t0001g0016 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0283 a0001c0001t0001g0295 a0001c0001t0002g0252 a0001c0001t0003g0208 a0001c0001t0008g0265 a0001c0001t0018g0213 a0001c0001t0019g0187 a0001c0001t0038g0163 a0001c0001t0042g0303 a0001c0001t0052g0162 a0001c0001t0061g0128 a0001c0001t0065g0148 a0001c0004t0001g0124 a0001c0004t0001g0136 a0001c0004t0001g0146 a0001c0004t0001g0170 a0001c0004t0001g0262 a0001c0004t0001g0266 a0001c0004t0036g0115 a0001c0004t0045g0166 a0001c0027t0019g0186 a0006c0018t0001g0087 a0013c0029t0002g0246	46	322	0.1429	-174	c.735 others(14): Show c.735-256_735-83del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397435	CACCCCCG others(167): Show CACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGG TGTCAGGAGGACACAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTT CACGCTGGGGCAGGGCATGGACCTGGGGATGAGGAGGTGTCAGGGGGACA CAGAGGACTTGGCTCCCCCACCCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01106.hp1 others(14): Show HG00099.hp2 HG00741.hp1 HG01106.hp1 HG02129.hp2 HG02280.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG04184.hp1 HG04228.hp1 NA19030.hp2	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0001c0003 a0008c0022 others(1): Show a0001c0001 a0001c0003 a0008c0022 a0011c0026	a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 others(5): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0037 a0001c0001t0056 a0001c0003t0070 a0008c0022t0016 a0011c0026t0004	a0001c0001t0004g0193 a0001c0001t0004g0275 a0001c0001t0004g0276 others(14): Show a0001c0001t0004g0193 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0015g0068 a0001c0001t0015g0088 a0001c0001t0015g0156 a0001c0001t0015g0158 a0001c0001t0016g0155 a0001c0001t0016g0157 a0001c0001t0037g0152 a0001c0001t0056g0268 a0001c0003t0070g0064 a0008c0022t0016g0151 a0011c0026t0004g0280	17	322	0.0528	-174	c.735 others(15): Show c.735-314_735-141del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397492	AGGACACA others(167): Show AGGACACAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTG GGGCAGGGCATGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGA CTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCGTGG ACCTGGGGATGAGGAGGTGTCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG02258.hp2 others(5): Show HG01433.hp1 HG01433.hp2 HG02258.hp2 HG02698.hp2 HG03041.hp2 HG03225.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0014 a0001c0003 a0001c0006 a0001c0014	a0001c0003t0010 a0001c0003t0046 a0001c0006t0007 others(1): Show a0001c0003t0010 a0001c0003t0046 a0001c0006t0007 a0001c0014t0030	a0001c0003t0010g0055 a0001c0003t0010g0056 a0001c0003t0010g0057 others(5): Show a0001c0003t0010g0055 a0001c0003t0010g0056 a0001c0003t0010g0057 a0001c0003t0046g0285 a0001c0006t0007g0315 a0001c0006t0007g0316 a0001c0006t0007g0321 a0001c0014t0030g0012	8	322	0.0248	-174	c.735 others(15): Show c.735-371_735-198del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
ZFAND2A_chr7_1147907_1165196	1156092	AGGGCTCC others(167): Show AGGGCTCCAAAGGGGTGGACCGCCCAGCAAGGCTAAAAACCTGAGCTGGG GGCTCCGAAGGGGTGGACTGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAA AACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCC CAGCAAGGCTAAAAACCTGAGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	432	0.0023	-174	c.151 others(15): Show c.151-682_151-509del		ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4						chr7	TogoVar
ZFAND2A_chr7_1147907_1165196	1156100	AAAGGGGT others(167): Show AAAGGGGTGGACCGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGA AGGGGTGGACTGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAG CTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGG CTAAAAACCTGAGCTGGGGGCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02970.hp2 HG03195.hp2 others(3): Show HG01167.hp1 HG02970.hp2 HG03195.hp2 HG03486.hp2 NA18993.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0163 a0001c0001t0003g0175 a0001c0001t0003g0016 a0001c0001t0003g0163 a0001c0001t0003g0175	6	432	0.0139	-174	c.151 others(15): Show c.151-690_151-517del		ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4						chr7	TogoVar
ZNF609_chr15_64455578_64691068	64577335	ACATATAT others(167): Show ACATATATATGTATATATATACACATATATGTATATATATACACATATAA ATATATACACATATATGTATATATATACACATATAAATATATACACATAT ATGTATATATATACACATATAAATATATACATATATATGTATATATATAC ACATATAAATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0020 a0001c0007t0012g0020	1	176	0.0057	-174	c.748 others(19): Show c.748-45491_748-45318del		ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9						chr15	TogoVar
ZNF888_chr19_52899415_52928428	52918958	ATCTCCCT others(167): Show ATCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 NA20300.hp2 others(1): Show HG02257.hp1 HG02970.hp1 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0016 a0002c0003t0016g0122 a0002c0003t0016g0221 a0002c0003t0016g0016 a0002c0003t0016g0122 a0002c0003t0016g0221	4	426	0.0094	-174	c.-17 others(16): Show c.-177-195_-177-22del		ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4						chr19	TogoVar
ADAMTS3_chr4_72275969_72574221	72385773	GTTCCATT others(166): Show GTTCCATTCTACCCTAAACCTCAGCATCATGCAATATACCCATGTAACAA ACCTGCACATGTACCACCTGAATCTAAAATAAAAGTTGGGGAAAAAATTA ATTATAAAATAAATAATTTGGGTATTCCAAATTTATTAGGAAGGCATAAA AATCAATGATTTTTTTTTCCTTTT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0039 a0004c0010t0003g0039	1	182	0.0055	-173	c.661 others(19): Show c.661+28869_661+29041del		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21						chr4	TogoVar
ADD1_chr4_2838844_2935062	2841683	CCACCACG others(166): Show CCACCACGCCTGGACCTTTTTACTTTTTTGTAGTTGGAAAAGGAAGGAAT ATTTTAATAGCTTTAAAATTGTTTTATTATGATAAAATTTTCATATTATA AAGTTTATCATTTTAATTATTTTAAAGTGTACAGTTCTGTGGCTTTGCGA ATATTCATATTATTGTTCAGTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02886.hp1 others(6): Show HG02280.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0007c0008t0003	a0001c0001t0001g0236 a0001c0001t0001g0262 a0001c0001t0001g0269 others(6): Show a0001c0001t0001g0236 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0286 a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0008g0295 a0007c0008t0003g0252	9	320	0.0281	-173	c.-23 others(11): Show c.-2361_-2189del		ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding					2160		chr4	TogoVar
AFAP1_chr4_7753714_7944861	7853061	ATGCATGG others(166): Show ATGCATGGGTGCCAAGGTGACCAAAGATAAACTGTGGTAGTTTTCTACTG TATCAGCCTAGCAAGGCTGGAATCACACTTCCCAAAATTCCCTTTCTTAG ATGATTCTGGGCTAGGGTGGCCCTGAGAGAAATCTGGGAGTGATAGGGCA GAGGGGAGCAGTGGCCCCAGACTC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA20129.hp2 HG01167.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0050 a0001c0002t0049 a0001c0002t0050	a0001c0002t0049g0290 a0001c0002t0050g0226 a0001c0002t0049g0290 a0001c0002t0050g0226	2	318	0.0063	-173	c.334 others(17): Show c.334+2232_334+2404del		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	4/17						chr4	TogoVar
ALG12_chr22_49895229_49923438	49902667	GGTGTGTG others(166): Show GGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACT GTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTAT GCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGT GCACGTGTGCACTGTGTATGCATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp2 HG02257.hp2 HG02451.hp2 others(16): Show HG02040.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 NA18522.hp1 NA18940.hp1 NA18943.hp1 NA18950.hp1 NA18966.hp2 NA18982.hp2 NA19004.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0008 a0003c0006 others(1): Show a0001c0002 a0001c0008 a0003c0006 a0004c0009	a0001c0002t0006 a0001c0002t0025 a0001c0008t0024 others(2): Show a0001c0002t0006 a0001c0002t0025 a0001c0008t0024 a0003c0006t0006 a0004c0009t0023	a0001c0002t0006g0044 a0001c0002t0006g0045 a0001c0002t0006g0181 others(11): Show a0001c0002t0006g0044 a0001c0002t0006g0045 a0001c0002t0006g0181 a0001c0002t0025g0046 a0001c0008t0024g0170 a0001c0008t0024g0171 a0003c0006t0006g0042 a0003c0006t0006g0043 a0003c0006t0006g0175 a0003c0006t0006g0176 a0003c0006t0006g0177 a0003c0006t0006g0180 a0004c0009t0023g0178 a0004c0009t0023g0179	19	348	0.0546	-173	c.99 others(10): Show c.998_*1170del		ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10				998		chr22	TogoVar
ALOXE3_chr17_8090900_8123514	8107826	AAAGAAAG others(166): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGA GAGAGAGAAAGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0260 a0001c0015t0002g0260	1	422	0.0024	-173	c.168 others(17): Show c.1684+469_1684+641del		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ARHGEF10_chr8_1818926_1963641	1889607	TGGGTGAG others(166): Show TGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGAA AACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGGGTGAAGGTTTGT GAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACATTGAGTGGGATG AGGGTTGTGAGGAGACACTGAGTG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0232 a0001c0001t0002g0233	2	363	0.0055	-173	c.118 others(19): Show c.1182+3910_1183-3780del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
C2CD6_chr2_201482421_201624178	201563076	CTCCCAGT others(166): Show CTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01168.hp2 others(13): Show HG00741.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01515.hp1 HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0001 a0005c0006t0001 a0003c0003t0001 a0005c0006t0001	a0003c0003t0001g0018 a0003c0003t0001g0024 a0003c0003t0001g0025 others(13): Show a0003c0003t0001g0018 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0005c0006t0001g0017 a0005c0006t0001g0023 a0005c0006t0001g0026 a0005c0006t0001g0032 a0005c0006t0001g0251	16	270	0.0593	-173	c.977 others(17): Show c.977+2480_977+2652del		C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15						chr2	TogoVar
CARS2_chr13_110636417_110711116	110677538	TCAGACAG others(166): Show TCAGACAGCCACCCCGCCACGGAAACCCAGACAGTCACCCCCACCATGGA AACACAATCACCCCACCACGGACACGCAGACAGTCACCCCACCACAGAAA CTCAGTCACCCCCACCAGGGAGACCCAGACAATCACACCACAGAAACTCA GACAGCCACCCCGCCACGGAAACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0008 a0009 a0012 a0013 a0014 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0025 a0001c0027 a0002c0004 a0002c0008 a0003c0006 a0003c0024 a0003c0028 a0005c0010 a0008c0013 a0009c0016 a0012c0023 a0013c0029 a0014c0030 a0015c0022 a0017c0026	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 a0001c0007t0002 a0001c0025t0001 a0001c0027t0001 a0002c0004t0001 a0002c0008t0003 a0003c0006t0002 a0003c0024t0001 a0003c0028t0001 a0005c0010t0001 a0008c0013t0001 a0009c0016t0001 a0012c0023t0002 a0013c0029t0001 a0014c0030t0001 a0015c0022t0001 a0017c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(196): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0001g0294 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0002t0001g0265 a0001c0002t0001g0279 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0003t0001g0158 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0325 a0001c0003t0001g0343 a0001c0003t0002g0006 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0003t0002g0289 a0001c0003t0002g0291 a0001c0003t0002g0293 a0001c0003t0002g0295 a0001c0003t0002g0296 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0301 a0001c0005t0001g0002 a0001c0005t0001g0010 a0001c0005t0001g0014 a0001c0005t0001g0078 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0136 a0001c0005t0001g0138 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0150 a0001c0005t0001g0170 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0005t0001g0174 a0001c0005t0001g0177 a0001c0005t0001g0178 a0001c0005t0001g0232 a0001c0005t0001g0337 a0001c0005t0002g0135 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0007t0001g0276 a0001c0007t0001g0277 a0001c0007t0001g0278 a0001c0007t0002g0275 a0001c0025t0001g0111 a0001c0027t0001g0175 a0002c0004t0001g0238 a0002c0008t0003g0246 a0003c0006t0002g0023 a0003c0006t0002g0321 a0003c0006t0002g0322 a0003c0006t0002g0323 a0003c0006t0002g0324 a0003c0006t0002g0326 a0003c0006t0002g0327 a0003c0006t0002g0328 a0003c0006t0002g0329 a0003c0006t0002g0330 a0003c0006t0002g0331 a0003c0006t0002g0332 a0003c0006t0002g0333 a0003c0006t0002g0334 a0003c0006t0002g0335 a0003c0006t0002g0336 a0003c0006t0002g0338 a0003c0006t0002g0340 a0003c0006t0002g0341 a0003c0006t0002g0342 a0003c0024t0001g0148 a0003c0028t0001g0137 a0005c0010t0001g0100 a0005c0010t0001g0101 a0005c0010t0001g0107 a0008c0013t0001g0025 a0008c0013t0001g0026 a0009c0016t0001g0024 a0012c0023t0002g0339 a0013c0029t0001g0176 a0014c0030t0001g0139 a0015c0022t0001g0112 a0017c0026t0001g0087	218	372	0.5860	-173	c.656 others(15): Show c.656-608_656-436del		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CBR3_chr21_36130079_36151562	36144611	AACAAGAC others(166): Show AACAAGACTCTGTCTCACAAAACAAAATAAAAAAATTTTAGGCCAGGTGT AGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGTAGAA TCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACT GCACTGCAGCCTAGGCAACAAAAC	A A	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	424	0.0024	-173	c.398 others(17): Show c.398-1463_398-1291del		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr21	TogoVar
CCDC6_chr10_59783747_59911556	59882126	AGGAAAGG others(166): Show AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGATGAAGG AATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGCCGCGGGGAGTAAGG AAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCCGGGGGGATGAATGG AAAGGTAATGCTCGGCGGGAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG02129.hp2 others(10): Show HG00280.hp2 HG00741.hp2 HG02129.hp2 HG02970.hp2 HG03041.hp2 HG03927.hp1 HG04184.hp2 NA18944.hp1 NA19004.hp2 NA19043.hp2 NA19070.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0003t0003 a0001c0005t0004 a0002c0004t0001	a0001c0001t0005g0001 a0001c0001t0005g0180 a0001c0001t0005g0182 others(9): Show a0001c0001t0005g0001 a0001c0001t0005g0180 a0001c0001t0005g0182 a0001c0001t0007g0181 a0001c0001t0007g0191 a0001c0001t0012g0003 a0001c0003t0003g0183 a0001c0005t0004g0114 a0001c0005t0004g0117 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0145	13	288	0.0451	-173	c.303 others(19): Show c.303+23823_303+23995del		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CDC123_chr10_12191188_12255589	12247128	GTCCTCCT others(166): Show GTCCTCCTCTCTCTCACCTCCCCCTCAGGGCACCGTGTCCCCCTCTCTCA CCTCCCCCTCAGGACACTGTCCTCCTCTCTCACCTCCCACTCTGGACACT GTGTCCTCCTCTCTCTCACCTCCCCCTCAGGACACTGTCCTCCTCTCTCA CCTCCCACTCCGGACACTGTGTCC	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19010.hp1 NA19084.hp1 NA18992.hp2 NA19010.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209	3	392	0.0077	-173	c.846 others(16): Show c.846+857_846+1029del		CDC123	ENSG00000151465.14	transcript	ENST00000281141.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD6_chr3_126699240_126965420	126862931	CCACCTTC others(166): Show CCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCATCACC ACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTACCTCCTC CTCCTCCACCATCACCACCTCCTCCTCCTCCTCCACCATCATCACCTCCT CCTCCTCCTCCACCATCACCACCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	216	0.0046	-173	c.495 others(19): Show c.495+10203_495+10375del		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL18A1_chr21_45400165_45518720	45501911	CTCCACAG others(166): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGT CACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTC CCTCTGCCGAAGGACCCCCAGGGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02572.hp1 HG02622.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0004 a0001c0038t0004	a0001c0038t0004g0028 a0001c0038t0004g0029 a0001c0038t0004g0028 a0001c0038t0004g0029	2	292	0.0069	-173	c.268 others(19): Show c.2684-2099_2684-1927del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41						chr21	TogoVar
CROCC2_chr2_240901336_240998311	240923587	AACCCAGC others(166): Show AACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCC CACACTAACCCAGTCCCCACACTG	A A	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0011 a0011	a0011c0080 a0011c0080	a0011c0080t0001 a0011c0080t0001	a0011c0080t0001g0142 a0011c0080t0001g0142	1	350	0.0029	-173	c.488 others(16): Show c.488+998_488+1170del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar

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