Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	277	0.0181	-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	a0001c0001t0001g0215 a0001c0001t0001g0259 a0001c0002t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0259 a0001c0002t0001g0212	3	306	0.0098	-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	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	174	0.0057	-496	c.915 others(17): Show c.915+1538_915+2033del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10						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	a0001c0001t0001g0256 a0001c0001t0001g0256	1	246	0.0041	-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	a0001c0001t0001g0215 a0001c0001t0001g0259 a0001c0001t0001g0215 a0001c0001t0001g0259	2	282	0.0071	-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	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0072 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0229 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0330 a0001c0001t0005g0219 a0001c0002t0001g0070	16	241	0.0664	-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	a0001c0001t0001g0090 a0001c0001t0001g0090	1	251	0.0040	-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	a0001c0001t0001g0173 a0001c0001t0001g0173	1	302	0.0033	-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	a0001c0003t0001g0202 a0001c0003t0001g0202	1	335	0.0030	-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 a0001c0001t0003g0200 a0001c0001t0003g0233 others(1): Show a0001c0001t0001g0232 a0001c0001t0003g0200 a0001c0001t0003g0233 a0001c0001t0004g0013	4	327	0.0122	-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	a0001c0004t0001g0153 a0002c0001t0002g0005 a0002c0001t0002g0044 others(8): Show a0001c0004t0001g0153 a0002c0001t0002g0005 a0002c0001t0002g0044 a0002c0001t0002g0152 a0002c0001t0002g0210 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0295 a0002c0001t0020g0308	16	406	0.0394	-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	50	0.2200	-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	a0001c0001t0007g0277 a0001c0001t0007g0277	1	277	0.0036	-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	a0001c0001t0010g0173 a0001c0001t0010g0173	1	350	0.0029	-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	a0001c0001t0005g0167 a0001c0001t0005g0211 a0001c0001t0005g0167 a0001c0001t0005g0211	2	309	0.0065	-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	a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0256 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0256	3	326	0.0092	-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	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0382 a0008c0017t0001g0382	1	402	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	a0077 a0077	a0077c0105 a0077c0105	a0077c0105t0002 a0077c0105t0002	a0077c0105t0002g0133 a0077c0105t0002g0133	1	354	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(66): 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	a0001 a0002 a0009 others(21): Show a0001 a0002 a0009 a0018 a0019 a0026 a0031 a0035 a0041 a0044 a0045 a0049 a0054 a0057 a0060 a0068 a0069 a0081 a0090 a0097 a0101 a0110 a0111 a0112	a0001c0001 a0002c0003 a0002c0005 others(30): Show a0001c0001 a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0009c0009 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0035c0035 a0041c0053 a0044c0131 a0045c0140 a0049c0135 a0054c0097 a0057c0070 a0060c0142 a0068c0127 a0069c0136 a0081c0124 a0090c0098 a0097c0122 a0101c0141 a0110c0048 a0111c0052 a0112c0132	a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 others(32): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0009c0009t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0035c0035t0002 a0035c0035t0007 a0041c0053t0002 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0054c0097t0002 a0057c0070t0001 a0060c0142t0002 a0068c0127t0002 a0069c0136t0002 a0081c0124t0002 a0090c0098t0002 a0097c0122t0002 a0101c0141t0002 a0110c0048t0002 a0111c0052t0002 a0112c0132t0015	a0001c0001t0001g0208 a0002c0003t0002g0006 a0002c0003t0002g0038 others(47): Show a0001c0001t0001g0208 a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0009c0009t0002g0005 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0035c0035t0002g0075 a0035c0035t0007g0220 a0041c0053t0002g0147 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0054c0097t0002g0247 a0057c0070t0001g0209 a0060c0142t0002g0225 a0068c0127t0002g0145 a0069c0136t0002g0257 a0081c0124t0002g0246 a0090c0098t0002g0203 a0097c0122t0002g0180 a0101c0141t0002g0219 a0110c0048t0002g0256 a0111c0052t0002g0146 a0112c0132t0015g0258	69	353	0.1955	-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	a0029 a0029	a0029c0024 a0029c0024	a0029c0024t0001 a0029c0024t0001	a0029c0024t0001g0087 a0029c0024t0001g0248 a0029c0024t0001g0087 a0029c0024t0001g0248	2	354	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	a0083 a0083	a0083c0073 a0083c0073	a0083c0073t0001 a0083c0073t0001	a0083c0073t0001g0094 a0083c0073t0001g0094	1	352	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	a0087 a0098 a0087 a0098	a0087c0087 a0098c0100 a0087c0087 a0098c0100	a0087c0087t0001 a0098c0100t0001 a0087c0087t0001 a0098c0100t0001	a0087c0087t0001g0103 a0098c0100t0001g0217 a0087c0087t0001g0103 a0098c0100t0001g0217	2	354	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	a0092 a0092	a0092c0066 a0092c0066	a0092c0066t0001 a0092c0066t0001	a0092c0066t0001g0108 a0092c0066t0001g0108	1	353	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	a0107 a0107	a0107c0082 a0107c0082	a0107c0082t0002 a0107c0082t0002	a0107c0082t0002g0244 a0107c0082t0002g0244	1	353	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	a0020 a0050 a0077 a0020 a0050 a0077	a0020c0032 a0020c0110 a0050c0106 others(1): Show a0020c0032 a0020c0110 a0050c0106 a0077c0105	a0020c0032t0002 a0020c0110t0002 a0050c0106t0002 others(1): Show a0020c0032t0002 a0020c0110t0002 a0050c0106t0002 a0077c0105t0002	a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 others(2): Show a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0050c0106t0002g0250 a0077c0105t0002g0133	5	350	0.0143	-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	a0079 a0079	a0079c0043 a0079c0043	a0079c0043t0001 a0079c0043t0001	a0079c0043t0001g0074 a0079c0043t0001g0074	1	353	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	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0235 a0001c0050t0001g0235	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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(56): 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	a0002 a0009 a0018 others(12): Show a0002 a0009 a0018 a0019 a0026 a0031 a0035 a0044 a0045 a0049 a0060 a0069 a0097 a0101 a0112	a0002c0003 a0002c0005 a0002c0036 others(21): Show a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0009c0009 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0035c0035 a0044c0131 a0045c0140 a0049c0135 a0060c0142 a0069c0136 a0097c0122 a0101c0141 a0112c0132	a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 others(23): Show a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0009c0009t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0035c0035t0002 a0035c0035t0007 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0060c0142t0002 a0069c0136t0002 a0097c0122t0002 a0101c0141t0002 a0112c0132t0015	a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(38): Show a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0009c0009t0002g0005 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0035c0035t0002g0075 a0035c0035t0007g0220 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0060c0142t0002g0225 a0069c0136t0002g0257 a0097c0122t0002g0180 a0101c0141t0002g0219 a0112c0132t0015g0258	59	349	0.1691	-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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	352	0.0085	-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	a0069 a0069	a0069c0136 a0069c0136	a0069c0136t0002 a0069c0136t0002	a0069c0136t0002g0257 a0069c0136t0002g0257	1	350	0.0029	-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	a0112 a0112	a0112c0132 a0112c0132	a0112c0132t0015 a0112c0132t0015	a0112c0132t0015g0258 a0112c0132t0015g0258	1	350	0.0029	-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	a0078 a0114 a0078 a0114	a0078c0095 a0114c0101 a0078c0095 a0114c0101	a0078c0095t0001 a0114c0101t0003 a0078c0095t0001 a0114c0101t0003	a0078c0095t0001g0254 a0114c0101t0003g0251 a0078c0095t0001g0254 a0114c0101t0003g0251	2	351	0.0057	-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	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	346	0.0058	-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	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	347	0.0029	-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	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0003 a0015c0014t0003	a0015c0014t0003g0132 a0015c0014t0003g0132	1	340	0.0029	-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	a0022 a0040 a0086 others(1): Show a0022 a0040 a0086 a0096	a0022c0020 a0040c0123 a0086c0099 others(1): Show a0022c0020 a0040c0123 a0086c0099 a0096c0121	a0022c0020t0002 a0040c0123t0005 a0086c0099t0001 others(1): Show a0022c0020t0002 a0040c0123t0005 a0086c0099t0001 a0096c0121t0002	a0022c0020t0002g0015 a0040c0123t0005g0182 a0086c0099t0001g0216 others(1): Show a0022c0020t0002g0015 a0040c0123t0005g0182 a0086c0099t0001g0216 a0096c0121t0002g0171	6	347	0.0173	-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	a0074 a0074	a0074c0103 a0074c0103	a0074c0103t0002 a0074c0103t0002	a0074c0103t0002g0080 a0074c0103t0002g0080	1	347	0.0029	-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	a0082 a0082	a0082c0047 a0082c0047	a0082c0047t0001 a0082c0047t0001	a0082c0047t0001g0077 a0082c0047t0001g0077	1	354	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	301	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	a0001c0001t0002g0156 a0001c0001t0002g0156	1	221	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	a0002c0002t0001g0129 a0002c0002t0001g0129	1	220	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	a0001c0001t0001g0077 a0001c0001t0001g0077	1	137	0.0073	-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	a0001c0001t0001g0157 a0002c0002t0002g0191 a0001c0001t0001g0157 a0002c0002t0002g0191	2	207	0.0097	-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	a0001c0003t0001g0084 a0001c0003t0001g0114 a0001c0003t0001g0193 others(7): Show a0001c0003t0001g0084 a0001c0003t0001g0114 a0001c0003t0001g0193 a0001c0003t0001g0219 a0001c0003t0002g0154 a0001c0003t0002g0176 a0001c0003t0002g0181 a0002c0002t0001g0026 a0002c0002t0001g0074 a0002c0002t0002g0178	10	220	0.0455	-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	a0002c0002t0001g0167 a0002c0002t0001g0167	1	226	0.0044	-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	171	0.0058	-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 a0036 a0058	a0001c0001 a0001c0032 a0002c0002 others(3): Show a0001c0001 a0001c0032 a0002c0002 a0004c0005 a0036c0092 a0058c0048	a0001c0001t0002 a0001c0032t0002 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0032t0002 a0002c0002t0001 a0004c0005t0001 a0036c0092t0001 a0058c0048t0001	a0001c0001t0002g0048 a0001c0032t0002g0036 a0002c0002t0001g0189 others(3): Show a0001c0001t0002g0048 a0001c0032t0002g0036 a0002c0002t0001g0189 a0004c0005t0001g0223 a0036c0092t0001g0125 a0058c0048t0001g0226	6	231	0.0260	-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 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0015 a0001c0001 a0002c0002 a0014c0015	a0001c0001t0002 a0002c0002t0001 a0014c0015t0002 a0001c0001t0002 a0002c0002t0001 a0014c0015t0002	a0001c0001t0002g0035 a0001c0001t0002g0072 a0002c0002t0001g0165 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0072 a0002c0002t0001g0165 a0014c0015t0002g0057	4	124	0.0323	-495	c.212 others(18): Show c.2121-1364_2121-870del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar

Search by Variant

Search

Search Results