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	2121985	CACGGCGG others(489): Show CACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGTTAGGT TCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGG GTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAG GGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTG TGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGC GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGG TGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02165.hp2 HG03927.hp2 others(2): Show HG00621.hp1 HG02165.hp2 HG03927.hp2 NA18956.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002	a0001c0002t0001g0006 a0001c0002t0002g0043 a0001c0004t0001g0145 others(2): Show a0001c0002t0001g0006 a0001c0002t0002g0043 a0001c0004t0001g0145 a0001c0004t0002g0037 a0001c0004t0002g0038	5	286	0.0175	-496	c.335 others(19): Show c.335-13276_335-12781del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(489): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02145.hp2 NA18940.hp2 HG02135.hp1 HG02145.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0213 a0001c0001t0001g0261 a0001c0002t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0261 a0001c0002t0001g0210	3	340	0.0088	-496	c.915 others(17): Show c.915+1169_915+1664del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091195	AGCGCCTA others(489): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	340	0.0029	-496	c.915 others(17): Show c.915+1600_915+2095del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091629	AGCGCCTA others(489): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	340	0.0029	-496	c.915 others(17): Show c.915+2065_915+2560del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091722	CGCGCCTA others(489): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18940.hp2 HG02135.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0261 a0001c0001t0001g0213 a0001c0001t0001g0261	2	340	0.0059	-496	c.915 others(17): Show c.915+2085_915+2580del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(489): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01074.hp1 others(13): Show HG00099.hp2 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01169.hp1 HG01496.hp2 HG02300.hp1 HG03017.hp2 NA18960.hp2 NA18973.hp2 NA18998.hp1 NA19002.hp1 NA19010.hp1 NA19068.hp1 NA19082.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0068 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0227 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0336 a0001c0001t0005g0217 a0001c0002t0001g0064	16	340	0.0471	-496	c.915 others(17): Show c.915+2995_915+3490del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092652	AGCGCCTA others(489): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	340	0.0029	-496	c.915 others(17): Show c.915+3026_915+3521del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092922	TAACCGCA others(489): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAG AGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	340	0.0029	-496	c.915 others(17): Show c.915+3274_915+3769del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092931	CGCGCCTA others(489): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTC GGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0200 a0001c0003t0001g0200	1	340	0.0029	-496	c.915 others(17): Show c.915+3305_915+3800del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093086	CGCGCCTA others(489): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 HG06807.hp1 others(1): Show HG02559.hp1 HG03225.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0232 a0001c0001t0003g0198 a0001c0001t0003g0233 others(1): Show a0001c0001t0001g0232 a0001c0001t0003g0198 a0001c0001t0003g0233 a0001c0001t0004g0007	4	340	0.0118	-496	c.915 others(17): Show c.915+3553_915+4048del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SEC16B_chr1_177923788_177975058	177962907	GACCAGCC others(489): Show GACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAA AATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCAGCTACTAGGAAGG CCGAGGCAGGAGGATCACTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCC GAGATTGTGCCACAGCACTCCAGCCTGGGCAACACAGTGAGACTCTGTCT CAAAAAAATAAAATAAAATAAAAAGTAAAGCTCTTTGTACAGTGTAAGGT GCTGTACATATGTATGTGGCTGCTGTCATTGTATTGTTACTATTAGTCAT AATAATATGTGCCCTACTCTATTAAGCACTAAGTATACAAAAGAAATTGA CCTCATACAAACCTAATAAGGGAGACAAGATTAATACAAGACTTTCAAAA TTACAACCCCATCTCTGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCAAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01192.hp2 HG01257.hp1 others(13): Show HG00597.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02083.hp1 NA18943.hp2 NA19010.hp2 NA19074.hp1 NA19082.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0002 a0002c0001t0020 a0001c0004t0001 a0002c0001t0002 a0002c0001t0020	a0001c0004t0001g0158 a0002c0001t0002g0008 a0002c0001t0002g0041 others(9): Show a0001c0004t0001g0158 a0002c0001t0002g0008 a0002c0001t0002g0041 a0002c0001t0002g0157 a0002c0001t0002g0224 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0273 a0002c0001t0002g0274 a0002c0001t0002g0315 a0002c0001t0020g0328	16	408	0.0392	-496	c.642 others(16): Show c.642+768_643-1174del		SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	5/25						chr1	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(489): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02257.hp1 HG02280.hp1 others(8): Show HG01167.hp2 HG02257.hp1 HG02280.hp1 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG03139.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0060 a0001c0003t0001 a0001c0003t0002	a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0015g0131 others(8): Show a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0015g0131 a0001c0001t0016g0127 a0001c0001t0016g0128 a0001c0001t0018g0130 a0001c0001t0018g0133 a0001c0001t0060g0132 a0001c0003t0001g0022 a0001c0003t0001g0045 a0001c0003t0002g0079	11	172	0.0640	-496	c.573 others(19): Show c.573+69221_573+69716del		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9						chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79919761	AGGTCAGT others(489): Show AGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGG AGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAA CCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGG TCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGT GAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0274 a0001c0001t0007g0274	1	352	0.0028	-496	c.392 others(15): Show c.392-857_392-362del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920122	ACGGAACC others(489): Show ACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGTGAGAGGTCAAG GTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAA GGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAAC CGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGA GGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0170 a0001c0001t0010g0170	1	352	0.0028	-496	c.392 others(16): Show c.392-1218_392-723del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920772	AGGAACCG others(489): Show AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGT CAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGA GGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACC GAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTC AGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG04228.hp2 HG01168.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0206 a0001c0001t0005g0164 a0001c0001t0005g0206	2	352	0.0057	-496	c.392 others(17): Show c.392-1868_392-1373del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920837	TGAGGAGA others(489): Show TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACG GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTC AGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19002.hp1 NA19012.hp1 NA18982.hp1 NA19002.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0253 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0253	3	352	0.0085	-496	c.392 others(17): Show c.392-1933_392-1438del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
STK31_chr7_23705219_23837513	23827858	ACTCCAGA others(489): Show ACTCCAGACCCTGTTTGTCTAGGTATCAGCAGTGGTGGCTGCAGAACAGT GGATACTGGTGAACCACAAATGCTGCTGCCTGATCGTTCCTCTGGGAGTT TTGTCTCAGAGGAGTACCCGGCTGTGTGAGGTGTCAGTCCACCCGTACTG GGGGGTGCCTCCCAGTTAGGCTACTCGGGAGTCAGGGACCCACTTGAGGA GGCAGTCTGCCTGTTCTCAGATCTCCAGCTGTGTGCTGGGAGAACCACTA CTCTCTTCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTATTG CTGTCTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGG CAGGGAGGCCTCTTTGAGCTGTGGTGGGCTCCACCCAGTTTGAGCTTCCC AGCCACTTTGTTTACCTACTCAAGCCTGAGCAATGGCAGGCACCCCTCCC CCAGCCTCGCTGCCGCCTTGCAGTTTGATCTGAGATTGCTGTGCTAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0381 a0009c0017t0001g0381	1	404	0.0025	-496	c.283 others(19): Show c.2830-4276_2830-3781del		STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
AHNAK2_chr14_104932253_104983374	104942038	TGGCATCT others(488): Show TGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGT CCTTGTCAGCCAGGGACAGGTCCCCCTCCAGCCGCGTACTGTCCAGCTTG GCTCCTGGGGCTTGGATGTCCACCTCCATGCTGGGCAGAGACACGTCCAG GTTGGGGGACGTCACCTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGA CATTAACGTCTATCTGGGGACCCTTGAGGTCCACTTTGGGTACCTTGAAA CTGGGCATCTGCAGCTTCGGCAGGTGCCCTTTGAGGCCGGCTCCCTCATG CACAGGGCCCTCTGGGAGTTTCACATCCTCTTGGCCAGCCTGGACCTCCA GATCAGCGGAAGGGGGCTGAATGCTGAGGTGAGTGGTCTTCAGGTCCCCC TGCATGGAGGGGAGGCTCACGTCAGCCTCCACCTTCAGCGCAGACACATC CAACGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAACGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp1 HG02717.hp1	a0073 a0073	a0073c0171 a0073c0171	a0073c0171t0002 a0073c0171t0002	a0073c0171t0002g0140 a0073c0171t0002g0140	1	356	0.0028	-495	c.129 others(11): Show c.12918_13412del	p.Ser others(15): Show p.Ser4307_Pro4471del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	13549/18335	12918/17388	4306/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104945515	TTTGGGCA others(488): Show TTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCA GGGACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTGGCTCCTGGGGCC TCGACGTCCACCTCCATGCTGGGCTGAGACACCTCCACGTCGGGGGCCGT CACATCCATCTTCGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTA TCTGGGGGCCCTTGCGATCTACTTTGGGCATCTTGAAACTGGGCATCTGC AACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTC TGGGAGCTTCACGTCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGG GGGGCTCAATGCTGATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGG AGGCTCAGGTCGGCCTCCACCTTTGGCGCAGACACATCCACCAAGACCTC AATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(67): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0021 others(34): Show a0001 a0011 a0021 a0022 a0025 a0029 a0030 a0031 a0052 a0061 a0062 a0065 a0067 a0098 a0100 a0101 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0167 a0168 a0196	a0001c0001 a0001c0003 a0001c0045 others(42): Show a0001c0001 a0001c0003 a0001c0045 a0011c0012 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0052c0208 a0052c0209 a0061c0166 a0062c0167 a0065c0203 a0067c0058 a0098c0204 a0100c0062 a0101c0063 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0167c0101 a0168c0102 a0196c0207	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(42): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0011c0012t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0052c0208t0002 a0052c0209t0002 a0061c0166t0002 a0062c0167t0002 a0065c0203t0002 a0067c0058t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0167c0101t0001 a0168c0102t0001 a0196c0207t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(51): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0011c0012t0002g0006 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0052c0208t0002g0231 a0052c0209t0002g0232 a0061c0166t0002g0293 a0062c0167t0002g0230 a0065c0203t0002g0201 a0067c0058t0002g0302 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0167c0101t0001g0235 a0168c0102t0001g0236 a0196c0207t0002g0153	70	356	0.1966	-495	c.944 others(9): Show c.9441_9935del	p.Phe others(15): Show p.Phe3148_Lys3312del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	10072/18335	9441/17388	3147/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946949	GGCCTCGA others(488): Show GGCCTCGATGGACTTGCCTGGGGCCGACACCCCGAATGACGGCATCTTGA ACTTGGGCATTTTGAACTTGCTGTCTTTGGCTGTCATGCCCTTGTCGGCC AGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCTTTGCTCTCGGGGC CTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTG TCACTTCCGCCTTGGGGCCTTTCAGGTCCACGTTGGGGCCCTTAACATCT ATCTGGGGGCCCTTGAGGTCCACTTCAGGCATCTTGAAACTGGGCATCTG CAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTGGCCCT CTGGGAGTTTCACATCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAG GGGGGCTGAATGCTGATGTCAGTGGTCTTAAGGTCCCCTTGCATGGAGGG GAGGCTCATGTCGGCTTCCACCTTCAGCTCAGACACATCCACCAAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG03139.hp2 HG02055.hp1 HG03139.hp2	a0037 a0037	a0037c0029 a0037c0029	a0037c0029t0001 a0037c0029t0001	a0037c0029t0001g0079 a0037c0029t0001g0294 a0037c0029t0001g0079 a0037c0029t0001g0294	2	356	0.0056	-495	c.800 others(9): Show c.8007_8501del	p.Leu others(15): Show p.Leu2670_Ala2834del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8638/18335	8007/17388	2669/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947036	GCCCTTGT others(488): Show GCCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCT TTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTC ACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCACGTTGGG GCCCTTAACATCTATCTGGGGGCCCTTGAGGTCCACTTCAGGCATCTTGA AACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCG GGAACGTGGCCCTCTGGGAGTTTCACATCCACCTGGCCAGCCTGGACCTC CAGTTGGGCAGAGGGGGGCTGAATGCTGATGTCAGTGGTCTTAAGGTCCC CTTGCATGGAGGGGAGGCTCATGTCGGCTTCCACCTTCAGCTCAGACACA TCCACCAACGCCTCGATGGACTCGCCTGGGGCCGACACCCTGAATGATGG CATCTTGAACTTGGGCATTTTGAACTTGCTATCTTTGGCTGTCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02965.hp2 HG02965.hp2	a0150 a0150	a0150c0082 a0150c0082	a0150c0082t0001 a0150c0082t0001	a0150c0082t0001g0088 a0150c0082t0001g0088	1	356	0.0028	-495	c.792 others(9): Show c.7920_8414del	p.Val others(15): Show p.Val2641_Gly2805del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8551/18335	7920/17388	2640/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947643	GTCACTTC others(488): Show GTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACATC TAGCTGGGGGCCCTTGAGGTCCATTTCAGGCATCTTGAAACTGGGCATCT GCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCCGGCACAGGGCCC TCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCGGA AGGGGGCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGG AGAGGCTCCCGTCGGCCTCCACCTTCGGCGCAGACACATCCACCGAGGCC TCGATGGACTTGCCTGGGGCAGACACCCCGAATGACGGCATCTTGAACTT GGGAATTTTGAACCTGCTGTCTTTGGTAGTCACATCCTTGTCCGCCACAG ACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCTCCCGGGGCCTCG ACATCCACCTCCACGCTGGGCTGAGACACCTCCACGTCGGGGGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp2 HG06807.hp1 HG03130.hp2 HG06807.hp1	a0063 a0159 a0063 a0159	a0063c0168 a0159c0141 a0063c0168 a0159c0141	a0063c0168t0001 a0159c0141t0001 a0063c0168t0001 a0159c0141t0001	a0063c0168t0001g0248 a0159c0141t0001g0108 a0063c0168t0001g0248 a0159c0141t0001g0108	2	356	0.0056	-495	c.731 others(9): Show c.7313_7807del	p.Met others(15): Show p.Met2438_Val2602del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7944/18335	7313/17388	2438/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947714	CATTTCAG others(488): Show CATTTCAGGCATCTTGAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTT TGAGGCCGGCTCCCTCCGGCACAGGGCCCTCTGGGAGTTTCACGTCCACT TGGCCAGCCTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTC AGTGGCCTTGAGGTCCCCCTGCATGGAGGAGAGGCTCCCGTCGGCCTCCA CCTTCGGCGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA GACACCCCGAATGACGGCATCTTGAACTTGGGAATTTTGAACCTGCTGTC TTTGGTAGTCACATCCTTGTCCGCCACAGACAGGTCCCCCTCCAGCCACG CACCATCCAGCTTGGCTCCCGGGGCCTCGACATCCACCTCCACGCTGGGC TGAGACACCTCCACGTCGGGGGCCATCACGTCCGTCTTGGGGCCTTTCAG GTCCAGCTTGGGGCCCTTGACATCTATCTGGGGGCCCTTGAGATCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03516.hp1 HG03516.hp1	a0146 a0146	a0146c0090 a0146c0090	a0146c0090t0001 a0146c0090t0001	a0146c0090t0001g0113 a0146c0090t0001g0113	1	356	0.0028	-495	c.724 others(9): Show c.7242_7736del	p.Asp others(15): Show p.Asp2415_Met2579del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7873/18335	7242/17388	2414/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948332	AGCGGAAG others(488): Show AGCGGAAGGGGGCTGAACGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCA TGGAGGGGAGGCTCACGTCGGCCTCCACCTTCAACGCAGACACATCCGCT GAGGCCTCGATGGACTTGCCAAGGGCAGACACCCCAAACGACAGCATCTT GAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGG CCAGGGACATGTCCCCCTCCAGCCGCGCACCATCCAGCTTGGCTCCTGGG GCCTTGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGC TGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGT CTATTTCGGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATC TGCAGCTTGGGCAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCC CTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCACGTCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18999.hp2 NA18999.hp2	a0173 a0173	a0173c0114 a0173c0114	a0173c0114t0002 a0173c0114t0002	a0173c0114t0002g0288 a0173c0114t0002g0288	1	356	0.0028	-495	c.662 others(9): Show c.6624_7118del	p.Asp others(15): Show p.Asp2209_Ala2373del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7255/18335	6624/17388	2208/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948349	CGCTGAGG others(488): Show CGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACG TCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTT GCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGA ACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCC TCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTC CACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGG GGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTG AGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTG CCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGT CCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01099.hp2 HG01255.hp2 HG02258.hp1 others(2): Show HG01099.hp2 HG01255.hp2 HG02258.hp1 HG02717.hp1 HG03041.hp2	a0026 a0072 a0073 others(1): Show a0026 a0072 a0073 a0085	a0026c0042 a0072c0178 a0073c0171 others(1): Show a0026c0042 a0072c0178 a0073c0171 a0085c0172	a0026c0042t0002 a0072c0178t0002 a0073c0171t0002 others(1): Show a0026c0042t0002 a0072c0178t0002 a0073c0171t0002 a0085c0172t0002	a0026c0042t0002g0124 a0026c0042t0002g0295 a0072c0178t0002g0298 others(2): Show a0026c0042t0002g0124 a0026c0042t0002g0295 a0072c0178t0002g0298 a0073c0171t0002g0140 a0085c0172t0002g0296	5	356	0.0140	-495	c.660 others(9): Show c.6607_7101del	p.Ile others(15): Show p.Ile2203_Ser2367del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7238/18335	6607/17388	2203/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948601	CGCTGGGC others(488): Show CGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGG TCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAG GTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCC CTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCC ACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAG GTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCT CCACCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGG GCAGACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCT GTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGAT GCGCACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0204 a0204	a0204c0053 a0204c0053	a0204c0053t0001 a0204c0053t0001	a0204c0053t0001g0065 a0204c0053t0001g0065	1	356	0.0028	-495	c.635 others(9): Show c.6355_6849del	p.Met others(15): Show p.Met2119_Ser2283del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6986/18335	6355/17388	2119/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948665	CTTGGGGC others(488): Show CTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAGGTCCACTTTGGGCA CCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGACT TCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTG GACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAGGTCAGTGGTCTTGA GGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCACCTTGGGTGGA GACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAA CGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCA GGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCGCACTATCCAGC TTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGCAGAGACACCTC GACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAGGTCCAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp1 HG00673.hp1	a0181 a0181	a0181c0060 a0181c0060	a0181c0060t0001 a0181c0060t0001	a0181c0060t0001g0272 a0181c0060t0001g0272	1	356	0.0028	-495	c.629 others(9): Show c.6291_6785del	p.Leu others(15): Show p.Leu2098_Lys2262del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6922/18335	6291/17388	2097/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948685	TTTCGGGG others(488): Show TTTCGGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGC AGCTTGGGCAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTC CAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAA GGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGG AGACTCATGTCGGCCTCCACCTTGGGTGGAGACACATCCACCGAGGCCTC GATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGTC AGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCCTGGAC GTCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCTCATTT CCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	-495	c.627 others(9): Show c.6271_6765del	p.Val others(15): Show p.Val2091_Glu2255del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6902/18335	6271/17388	2091/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948834	AGGGGCTG others(488): Show AGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGG GAGACTCATGTCGGCCTCCACCTTGGGTGGAGACACATCCACCGAGGCCT CGATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTG GGCATTTTGAACTTGCTGTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGT CAGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCCTGGA CGTCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCTCATT TCCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCACCTG GGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCT TGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGGCACGTGGCCCTCCGGG AGCTTCACATCCACCTGGCCAGTCTGGACCTTCAGGTCGGCAGAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00323.hp1 HG00642.hp1 others(57): Show HG00099.hp1 HG00323.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0021 others(24): Show a0001 a0011 a0021 a0022 a0025 a0029 a0030 a0031 a0052 a0065 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0115 a0116 a0117 a0118 a0119 a0121 a0122 a0123	a0001c0001 a0001c0003 a0001c0045 others(32): Show a0001c0001 a0001c0003 a0001c0045 a0011c0012 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0052c0208 a0052c0209 a0065c0203 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0121c0231 a0122c0213 a0123c0233	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(32): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0011c0012t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0052c0208t0002 a0052c0209t0002 a0065c0203t0002 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(41): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0011c0012t0002g0006 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0052c0208t0002g0231 a0052c0209t0002g0232 a0065c0203t0002g0201 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299	60	356	0.1685	-495	c.612 others(9): Show c.6122_6616del	p.Pro others(15): Show p.Pro2041_Pro2205del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6753/18335	6122/17388	2041/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949349	AGTGGTCT others(488): Show AGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCA CCTTGGGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCC GATACCCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTC TTTGGCAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCG CACCATCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGC AGAGACACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAG GTCCAGCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTT TGGGCATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGG CCGGCTCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCC AGCCTGGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	-495	c.560 others(9): Show c.5607_6101del	p.Asp others(15): Show p.Asp1870_Thr2034del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6238/18335	5607/17388	1869/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949406	TGCAGGCA others(488): Show TGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCC CGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCA GTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATC CAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACA CCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGC TTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGCAT CTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTC CCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGG ACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAG GTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0005 a0018c0017t0005	a0018c0017t0005g0008 a0018c0017t0005g0008	3	356	0.0084	-495	c.555 others(9): Show c.5550_6044del	p.Pro others(15): Show p.Pro1851_Ala2015del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6181/18335	5550/17388	1850/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949853	GAGGTCCC others(488): Show GAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCG CAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCG AACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT CACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCA GCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACC TCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTT GGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCT TCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCC TCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGAC CTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02572.hp1 HG02572.hp1	a0108 a0108	a0108c0218 a0108c0218	a0108c0218t0002 a0108c0218t0002	a0108c0218t0002g0303 a0108c0218t0002g0303	1	356	0.0028	-495	c.510 others(9): Show c.5103_5597del	p.Lys others(15): Show p.Lys1702_Leu1866del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5734/18335	5103/17388	1701/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949902	GCAGACAC others(488): Show GCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCC GAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAG TCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCC AGCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACAC CTCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCT TGGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATC TTCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCC CTCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGA CCTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGG TCCCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19043.hp2 NA19043.hp2	a0122 a0122	a0122c0213 a0122c0213	a0122c0213t0015 a0122c0213t0015	a0122c0213t0015g0304 a0122c0213t0015g0304	1	356	0.0028	-495	c.505 others(9): Show c.5054_5548del	p.Glu others(15): Show p.Glu1685_Ser1849del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5685/18335	5054/17388	1685/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950104	CCACGTCG others(488): Show CCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTT CAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCT CGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACC TCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTC CCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACA CATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGAT GGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGC CTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTG CTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0074 a0075 a0074 a0075	a0074c0179 a0075c0164 a0074c0179 a0075c0164	a0074c0179t0003 a0075c0164t0001 a0074c0179t0003 a0075c0164t0001	a0074c0179t0003g0297 a0075c0164t0001g0301 a0074c0179t0003g0297 a0075c0164t0001g0301	2	356	0.0056	-495	c.485 others(9): Show c.4852_5346del	p.Lys others(15): Show p.Lys1618_Val1782del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5483/18335	4852/17388	1618/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950411	CGAGGCCT others(488): Show CGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCT TGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCG GCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGG GGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGG CTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACA TCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCAT CTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGC CCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCA GAAGGGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGA GGGGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18943.hp2 NA19055.hp1 NA18943.hp2 NA19055.hp1	a0043 a0043	a0043c0040 a0043c0040	a0043c0040t0001 a0043c0040t0001	a0043c0040t0001g0172 a0043c0040t0001g0191 a0043c0040t0001g0172 a0043c0040t0001g0191	2	356	0.0056	-495	c.454 others(9): Show c.4545_5039del	p.Val others(15): Show p.Val1516_Ser1680del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5176/18335	4545/17388	1515/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950872	CGTCGGCC others(488): Show CGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCT CCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACC TCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTT GGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCT TGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGG TGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCAC GTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03453.hp2 HG03453.hp2	a0163 a0163	a0163c0098 a0163c0098	a0163c0098t0001 a0163c0098t0001	a0163c0098t0001g0122 a0163c0098t0001g0122	1	356	0.0028	-495	c.408 others(9): Show c.4084_4578del	p.Met others(15): Show p.Met1362_Asp1526del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4715/18335	4084/17388	1362/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950915	GATGGACT others(488): Show GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGAC ATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGAC ATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTT CCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCA GGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTT GGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGA GTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGC TGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCT CATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03225.hp2 HG03225.hp2	a0169 a0169	a0169c0237 a0169c0237	a0169c0237t0003 a0169c0237t0003	a0169c0237t0003g0139 a0169c0237t0003g0139	1	356	0.0028	-495	c.404 others(9): Show c.4041_4535del	p.Glu others(15): Show p.Glu1348_Ile1512del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4672/18335	4041/17388	1347/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951125	GTCTTTTA others(488): Show GTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGA GGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGC CCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTC CAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGA GGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCC TCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGG GGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGC TGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGC TGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACT GGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00609.hp1 HG02056.hp1 HG03130.hp1 others(3): Show HG00609.hp1 HG02056.hp1 HG03130.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0020 a0064 a0066 others(1): Show a0020 a0064 a0066 a0086	a0020c0018 a0064c0165 a0066c0202 others(1): Show a0020c0018 a0064c0165 a0066c0202 a0086c0188	a0020c0018t0002 a0064c0165t0001 a0066c0202t0005 others(1): Show a0020c0018t0002 a0064c0165t0001 a0066c0202t0005 a0086c0188t0002	a0020c0018t0002g0009 a0064c0165t0001g0247 a0066c0202t0005g0203 others(1): Show a0020c0018t0002g0009 a0064c0165t0001g0247 a0066c0202t0005g0203 a0086c0188t0002g0182	6	356	0.0169	-495	c.383 others(9): Show c.3831_4325del	p.His others(15): Show p.His1278_Asp1442del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4462/18335	3831/17388	1277/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951155	GTCTATTT others(488): Show GTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCA TCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGG CCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGT GGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGG AGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAG GCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAA CTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCA GGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCC TGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGT CACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp1 HG02630.hp1	a0068 a0068	a0068c0169 a0068c0169	a0068c0169t0002 a0068c0169t0002	a0068c0169t0002g0071 a0068c0169t0002g0071	1	356	0.0028	-495	c.380 others(9): Show c.3801_4295del	p.Glu others(15): Show p.Glu1267_Ile1431del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4432/18335	3801/17388	1267/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951806	GGGCTGAA others(488): Show GGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGA GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCG ATGGACTTGCCTGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGG CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA GTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACG TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC CGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGG GGCCCTTGAGGGCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTG GGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAG CTTCACATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02922.hp2 HG02922.hp2	a0197 a0197	a0197c0057 a0197c0057	a0197c0057t0001 a0197c0057t0001	a0197c0057t0001g0068 a0197c0057t0001g0068	1	356	0.0028	-495	c.315 others(9): Show c.3150_3644del	p.Ala others(15): Show p.Ala1051_Pro1215del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3781/18335	3150/17388	1050/5795			chr14	TogoVar
ASAP1_chr8_130047104_130448674	130049774	GGGGAACA others(488): Show GGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGA ACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGG GGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAG GGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACA TGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGC AGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAA CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACGGGGGGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0049 a0001c0001t0014g0049	1	308	0.0033	-495	c.44 others(11): Show c.4462_*4956del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2329		chr8	TogoVar
ASMT_chrX_1610059_1648081	1639377	CTGTGTGT others(488): Show CTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC AGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	223	0.0045	-495	c.910 others(17): Show c.910+2827_911-2922del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639488	GTCCTGTG others(488): Show GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	223	0.0045	-495	c.910 others(17): Show c.910+2943_911-2806del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(488): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	223	0.0045	-495	c.910 others(17): Show c.910+3028_911-2721del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640587	ACATGAGG others(488): Show ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03195.hp2 HG01517.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0158 a0002c0002t0002g0191 a0001c0001t0001g0158 a0002c0002t0002g0191	2	223	0.0090	-495	c.911 others(17): Show c.911-2147_911-1653del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640878	GTGTCCCA others(488): Show GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp2 HG02273.hp2 others(7): Show HG01934.hp1 HG01978.hp2 HG02273.hp2 NA18941.hp2 NA18950.hp2 NA18977.hp2 NA18985.hp1 NA19003.hp1 NA19011.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0003t0001g0080 a0001c0003t0001g0115 a0001c0003t0001g0193 others(7): Show a0001c0003t0001g0080 a0001c0003t0001g0115 a0001c0003t0001g0193 a0001c0003t0001g0219 a0001c0003t0002g0155 a0001c0003t0002g0177 a0001c0003t0002g0182 a0002c0002t0001g0026 a0002c0002t0001g0073 a0002c0002t0002g0178	10	223	0.0448	-495	c.911 others(17): Show c.911-1905_911-1411del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP46_chr10_132803392_132947570	132914022	CCCCCGCC others(488): Show CCCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	246	0.0041	-495	c.212 others(18): Show c.2121-1259_2121-765del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	CCCCGAGG others(488): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0095 a0007c0008t0002g0095	1	246	0.0041	-495	c.212 others(18): Show c.2121-1265_2121-771del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914094	GCCCGAGG others(488): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01106.hp1 others(3): Show HG00140.hp2 HG00408.hp2 HG01106.hp1 HG02602.hp2 HG03704.hp2 HG04204.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0033 a0061	a0001c0001 a0001c0032 a0002c0002 others(3): Show a0001c0001 a0001c0032 a0002c0002 a0004c0005 a0033c0048 a0061c0092	a0001c0001t0002 a0001c0032t0002 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0032t0002 a0002c0002t0001 a0004c0005t0001 a0033c0048t0001 a0061c0092t0001	a0001c0001t0002g0049 a0001c0032t0002g0038 a0002c0002t0001g0194 others(3): Show a0001c0001t0002g0049 a0001c0032t0002g0038 a0002c0002t0001g0194 a0004c0005t0001g0223 a0033c0048t0001g0224 a0061c0092t0001g0125	6	246	0.0244	-495	c.212 others(18): Show c.2121-1331_2121-837del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	CCCCGAGG others(488): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCC CGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01256.hp1 HG03710.hp2 others(1): Show HG00408.hp1 HG01256.hp1 HG03710.hp2 NA18945.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0015 a0001c0001 a0002c0002 a0015c0015	a0001c0001t0002 a0002c0002t0001 a0015c0015t0002 a0001c0001t0002 a0002c0002t0001 a0015c0015t0002	a0001c0001t0002g0037 a0001c0001t0002g0071 a0002c0002t0001g0184 others(1): Show a0001c0001t0002g0037 a0001c0001t0002g0071 a0002c0002t0001g0184 a0015c0015t0002g0063	4	246	0.0163	-495	c.212 others(18): Show c.2121-1364_2121-870del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar

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Search Results (Total: 10000 hits)