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
ALK_chr2_29187774_29926586	29240152	C C	CAGAGAGA others(5): Show CAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0003 a0003	a0003c0026 a0003c0034 a0003c0026 a0003c0034	a0003c0026t0002 a0003c0034t0002 a0003c0026t0002 a0003c0034t0002	a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0026t0002g0015 a0003c0034t0002g0071	2	80	0.0250	12	c.220 others(29): Show c.2205-323_2205-322insCTCCCTCTCTCT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	12/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29288951	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0001 a0003c0010t0006g0001	1	80	0.0125	12	c.181 others(31): Show c.1817+7936_1817+7937insTTTTTTTTTTTT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	9/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29296722	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp1 HG02257.hp1 HG03209.hp1	a0002 a0002	a0002c0011 a0002c0052 a0002c0011 a0002c0052	a0002c0011t0001 a0002c0052t0001 a0002c0011t0001 a0002c0052t0001	a0002c0011t0001g0042 a0002c0052t0001g0017 a0002c0011t0001g0042 a0002c0052t0001g0017	2	80	0.0250	12	c.181 others(29): Show c.1817+154_1817+165dupACACACACACAC		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	9/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29396836	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0042 a0002c0011t0001g0042	1	80	0.0125	12	c.115 others(33): Show c.1155-12989_1155-12978dupAAAAAAAAAAAA		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	4/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29473853	C C	CAAAACAA others(5): Show CAAAACAAAAACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01891.hp2 others(13): Show HG00140.hp2 HG01123.hp2 HG01891.hp2 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02622.hp2 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 NA18969.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0006 a0001c0017 a0001c0022 others(11): Show a0001c0006 a0001c0017 a0001c0022 a0001c0023 a0001c0050 a0001c0051 a0002c0001 a0002c0014 a0002c0028 a0002c0056 a0003c0003 a0003c0012 a0004c0002 a0007c0044	a0001c0006t0001 a0001c0017t0001 a0001c0022t0001 others(11): Show a0001c0006t0001 a0001c0017t0001 a0001c0022t0001 a0001c0023t0010 a0001c0050t0014 a0001c0051t0001 a0002c0001t0001 a0002c0014t0001 a0002c0028t0001 a0002c0056t0001 a0003c0003t0002 a0003c0012t0002 a0004c0002t0003 a0007c0044t0012	a0001c0006t0001g0026 a0001c0017t0001g0012 a0001c0022t0001g0007 others(13): Show a0001c0006t0001g0026 a0001c0017t0001g0012 a0001c0022t0001g0007 a0001c0023t0010g0076 a0001c0050t0014g0078 a0001c0051t0001g0019 a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0063 a0002c0014t0001g0009 a0002c0028t0001g0014 a0002c0056t0001g0040 a0003c0003t0002g0038 a0003c0012t0002g0034 a0004c0002t0003g0025 a0007c0044t0012g0077	16	80	0.2000	12	c.115 others(33): Show c.1154+58050_1154+58061dupTGTTTTTGTTTT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	4/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29494843	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0049 a0002c0008t0001g0049	1	80	0.0125	12	c.115 others(33): Show c.1154+37060_1154+37071dupACACACACACAC		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	4/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29539612	G G	GTATTATA others(5): Show GTATTATAACTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01074.hp1 others(23): Show HG00140.hp2 HG00323.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01884.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02738.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03225.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18969.hp1 NA18969.hp2 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0004 a0001c0006 a0001c0009 others(19): Show a0001c0004 a0001c0006 a0001c0009 a0001c0025 a0001c0027 a0001c0035 a0001c0050 a0002c0001 a0002c0007 a0002c0011 a0002c0014 a0002c0018 a0003c0005 a0003c0012 a0003c0015 a0003c0026 a0003c0031 a0003c0034 a0004c0002 a0005c0013 a0005c0046 a0008c0057	a0001c0004t0001 a0001c0006t0001 a0001c0009t0005 others(19): Show a0001c0004t0001 a0001c0006t0001 a0001c0009t0005 a0001c0025t0011 a0001c0027t0001 a0001c0035t0001 a0001c0050t0014 a0002c0001t0001 a0002c0007t0001 a0002c0011t0001 a0002c0014t0001 a0002c0018t0001 a0003c0005t0002 a0003c0012t0002 a0003c0015t0002 a0003c0026t0002 a0003c0031t0002 a0003c0034t0002 a0004c0002t0003 a0005c0013t0004 a0005c0046t0004 a0008c0057t0002	a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0009t0005g0018 others(23): Show a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0009t0005g0018 a0001c0025t0011g0074 a0001c0027t0001g0013 a0001c0035t0001g0068 a0001c0050t0014g0078 a0002c0001t0001g0027 a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0063 a0002c0007t0001g0064 a0002c0011t0001g0051 a0002c0014t0001g0009 a0002c0018t0001g0008 a0003c0005t0002g0032 a0003c0012t0002g0034 a0003c0015t0002g0010 a0003c0026t0002g0015 a0003c0031t0002g0030 a0003c0034t0002g0071 a0004c0002t0003g0025 a0005c0013t0004g0020 a0005c0013t0004g0050 a0005c0046t0004g0053 a0008c0057t0002g0023	26	80	0.3250	12	c.953 others(29): Show c.953-7497_953-7496insAAAGTTATAATA		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29559768	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 NA18906.hp2 HG01109.hp2 HG02258.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0045 a0001c0004 a0004c0045	a0001c0004t0001 a0001c0004t0008 a0004c0045t0002 a0001c0004t0001 a0001c0004t0008 a0004c0045t0002	a0001c0004t0001g0021 a0001c0004t0008g0003 a0004c0045t0002g0043 a0001c0004t0001g0021 a0001c0004t0008g0003 a0004c0045t0002g0043	3	80	0.0375	12	c.953 others(31): Show c.953-27664_953-27653dupACACACACACAC		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29637709	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02922.hp2 HG03540.hp2 HG00738.hp2 HG02922.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0058 a0002c0011 a0001c0009 a0001c0058 a0002c0011	a0001c0009t0005 a0001c0058t0001 a0002c0011t0001 a0001c0009t0005 a0001c0058t0001 a0002c0011t0001	a0001c0009t0005g0018 a0001c0058t0001g0024 a0002c0011t0001g0051 a0001c0009t0005g0018 a0001c0058t0001g0024 a0002c0011t0001g0051	3	80	0.0375	12	c.952 others(31): Show c.952+57129_952+57140dupTTTTTTTTTTTT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29649217	T T	TGAGAGAG others(5): Show TGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0003 a0003	a0003c0026 a0003c0034 a0003c0026 a0003c0034	a0003c0026t0002 a0003c0034t0002 a0003c0026t0002 a0003c0034t0002	a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0026t0002g0015 a0003c0034t0002g0071	2	80	0.0250	12	c.952 others(31): Show c.952+45621_952+45632dupTCTCTCTCTCTC		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29706975	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02109.hp2 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0038 a0002c0036 a0001c0038 a0002c0036	a0001c0038t0001 a0002c0036t0015 a0001c0038t0001 a0002c0036t0015	a0001c0038t0001g0035 a0002c0036t0015g0080 a0001c0038t0001g0035 a0002c0036t0015g0080	2	80	0.0250	12	c.787 others(31): Show c.787+10591_787+10602dupCACACACACACA		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	2/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29768713	C C	CTATGTGT others(5): Show CTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02647.hp2 others(2): Show HG02145.hp2 HG02451.hp2 HG02647.hp2 HG03041.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0017 a0001c0022 a0003c0012 others(2): Show a0001c0017 a0001c0022 a0003c0012 a0003c0024 a0003c0041	a0001c0017t0001 a0001c0022t0001 a0003c0012t0002 others(2): Show a0001c0017t0001 a0001c0022t0001 a0003c0012t0002 a0003c0024t0009 a0003c0041t0002	a0001c0017t0001g0012 a0001c0022t0001g0007 a0003c0012t0002g0067 others(2): Show a0001c0017t0001g0012 a0001c0022t0001g0007 a0003c0012t0002g0067 a0003c0024t0009g0075 a0003c0041t0002g0046	5	80	0.0625	12	c.668 others(31): Show c.668-51017_668-51016insCACACACACATA		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29789015	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01074.hp1 others(6): Show HG00140.hp1 HG00140.hp2 HG01074.hp1 HG01106.hp2 HG02109.hp2 HG02258.hp2 HG03540.hp2 NA18969.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0009 a0001c0033 others(5): Show a0001c0004 a0001c0009 a0001c0033 a0002c0007 a0002c0014 a0002c0036 a0003c0003 a0003c0005	a0001c0004t0001 a0001c0004t0008 a0001c0009t0005 others(6): Show a0001c0004t0001 a0001c0004t0008 a0001c0009t0005 a0001c0033t0001 a0002c0007t0001 a0002c0014t0001 a0002c0036t0015 a0003c0003t0002 a0003c0005t0002	a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0009t0005g0018 others(6): Show a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0009t0005g0018 a0001c0033t0001g0029 a0002c0007t0001g0064 a0002c0014t0001g0009 a0002c0036t0015g0080 a0003c0003t0002g0065 a0003c0005t0002g0032	9	80	0.1125	12	c.668 others(31): Show c.668-71330_668-71319dupCACACACACACA		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29799506	A A	AAAACAAA others(5): Show AAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0054 a0003c0054	a0003c0054t0002 a0003c0054t0002	a0003c0054t0002g0069 a0003c0054t0002g0069	1	80	0.0125	12	c.668 others(31): Show c.668-81821_668-81810dupGTTTGTTTGTTT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29831174	A A	AGGAAGGG others(5): Show AGGAAGGGGAAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0004 a0005c0021t0004	a0005c0021t0004g0006 a0005c0021t0004g0006	1	80	0.0125	12	c.667 others(31): Show c.667+88807_667+88818dupCCTTCCCCTTCC		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29831185	G G	GCGAAGAA others(5): Show GCGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0048 a0003c0005t0002g0048	1	80	0.0125	12	c.667 others(31): Show c.667+88807_667+88808insTCTTCTTCTTCG		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29831259	G G	GGAAGAAG others(5): Show GGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01109.hp2 others(1): Show HG00323.hp2 HG01074.hp2 HG01109.hp2 HG01884.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0020 a0002c0049 a0002c0055 others(1): Show a0001c0020 a0002c0049 a0002c0055 a0004c0045	a0001c0020t0005 a0002c0049t0001 a0002c0055t0001 others(1): Show a0001c0020t0005 a0002c0049t0001 a0002c0055t0001 a0004c0045t0002	a0001c0020t0005g0005 a0002c0049t0001g0072 a0002c0055t0001g0031 others(1): Show a0001c0020t0005g0005 a0002c0049t0001g0072 a0002c0055t0001g0031 a0004c0045t0002g0043	4	80	0.0500	12	c.667 others(31): Show c.667+88722_667+88733dupTTCTTCTTCTTC		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29909480	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19240.hp1 NA20300.hp2 HG02622.hp2 NA19240.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0006 a0001c0050 a0007c0044 a0001c0006 a0001c0050 a0007c0044	a0001c0006t0007 a0001c0050t0014 a0007c0044t0012 a0001c0006t0007 a0001c0050t0014 a0007c0044t0012	a0001c0006t0007g0056 a0001c0050t0014g0078 a0007c0044t0012g0077 a0001c0006t0007g0056 a0001c0050t0014g0078 a0007c0044t0012g0077	3	80	0.0375	12	c.667 others(31): Show c.667+10501_667+10512dupCTCTCTCTCTCT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALLC_chr2_3653200_3707671	3668566	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	274	0.0037	12	c.-62 others(29): Show c.-62-2514_-62-2503dupTTTTTTTTTTTT		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690306	T T	TCCCCCTC others(5): Show TCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19064.hp2 NA18965.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0074 a0001c0001t0001g0076	2	274	0.0073	12	c.512 others(29): Show c.512-5371_512-5360dupCCTCCCCTCCCC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690369	T T	TCCCCTCC others(5): Show TCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	274	0.0037	12	c.512 others(29): Show c.512-5345_512-5334dupCCTCCCCTCCCC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690391	T T	TCCCCTCC others(5): Show TCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0234 a0002c0005t0001g0234	1	274	0.0037	12	c.512 others(29): Show c.512-5311_512-5300dupCCTCCCCTCCCC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3697609	C C	CTCTGTCT others(5): Show CTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02818.hp1 HG02559.hp2 HG02723.hp2 HG02818.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0007 a0002c0005 a0005c0007	a0002c0005t0001 a0005c0007t0004 a0002c0005t0001 a0005c0007t0004	a0002c0005t0001g0235 a0005c0007t0004g0254 a0005c0007t0004g0257 a0002c0005t0001g0235 a0005c0007t0004g0254 a0005c0007t0004g0257	3	274	0.0110	12	c.850 others(27): Show c.850+157_850+168dupGTCTGTCTGTCT		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3697621	G G	GTCTGTCT others(5): Show GTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG02896.hp1 others(1): Show HG02258.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2	a0002 a0003 a0002 a0003	a0002c0009 a0003c0003 a0002c0009 a0003c0003	a0002c0009t0002 a0003c0003t0002 a0002c0009t0002 a0003c0003t0002	a0002c0009t0002g0013 a0003c0003t0002g0016 a0003c0003t0002g0017 others(1): Show a0002c0009t0002g0013 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0034	4	274	0.0146	12	c.850 others(27): Show c.850+168_850+169insGTCTATCTATCT		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3697621	G G	GTCTGTCT others(5): Show GTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02970.hp1 others(1): Show HG02451.hp1 HG02647.hp1 HG02970.hp1 HG03540.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0003 a0002c0005 a0003c0003	a0002c0005t0001 a0002c0005t0002 a0003c0003t0002 a0002c0005t0001 a0002c0005t0002 a0003c0003t0002	a0002c0005t0001g0234 a0002c0005t0001g0243 a0002c0005t0002g0012 others(1): Show a0002c0005t0001g0234 a0002c0005t0001g0243 a0002c0005t0002g0012 a0003c0003t0002g0020	4	274	0.0146	12	c.850 others(27): Show c.850+168_850+169insGTCTGTCTATCT		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3704373	G G	GGAGGGGT others(5): Show GGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG03516.hp1 others(2): Show HG02258.hp2 HG02723.hp1 HG03516.hp1 NA18522.hp1 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003	a0004c0004t0001g0037 a0004c0004t0001g0153 a0004c0004t0002g0125 others(2): Show a0004c0004t0001g0037 a0004c0004t0001g0153 a0004c0004t0002g0125 a0004c0004t0003g0251 a0004c0004t0003g0252	5	274	0.0183	12	c.18 others(23): Show c.1810_*1811insGAGGGGTGTGGA		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding					1703		chr2	TogoVar
ALMS1_chr2_73380836_73614916	73385903	T T	TGGAGGAG others(5): Show TGGAGGAGGAGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19074.hp1 NA19074.hp1	a0059 a0059	a0059c0076 a0059c0076	a0059c0076t0001 a0059c0076t0001	a0059c0076t0001g0003 a0059c0076t0001g0003	1	248	0.0040	12	c.63_ others(17): Show c.63_74dupGGAGGAGGAGGA	p.Glu others(11): Show p.Glu22_Glu25dup	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/23	108/12844	75/12507	25/4168		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73391294	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02293.hp1 HG02886.hp1 HG02004.hp2 HG02293.hp1 HG02886.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0007 a0005c0005 a0006c0007	a0005c0005t0001 a0006c0007t0001 a0005c0005t0001 a0006c0007t0001	a0005c0005t0001g0117 a0005c0005t0001g0118 a0006c0007t0001g0102 a0005c0005t0001g0117 a0005c0005t0001g0118 a0006c0007t0001g0102	3	248	0.0121	12	c.324 others(29): Show c.324+5108_324+5119dupTTTTTTTTTTTT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73394992	A A	ATATATAT others(5): Show ATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(48): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA19009.hp2 NA19043.hp2 NA19058.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0006 a0009 a0010 a0019 a0026 a0030 a0034 a0035 a0038 a0044 a0045 a0055	a0001c0001 a0002c0004 a0002c0011 others(20): Show a0001c0001 a0002c0004 a0002c0011 a0002c0020 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0053 a0006c0007 a0006c0010 a0009c0013 a0009c0026 a0010c0009 a0019c0018 a0026c0057 a0030c0038 a0034c0049 a0035c0050 a0038c0051 a0044c0064 a0045c0063 a0055c0072	a0001c0001t0001 a0002c0004t0001 a0002c0011t0001 others(20): Show a0001c0001t0001 a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0053t0002 a0006c0007t0001 a0006c0010t0001 a0009c0013t0001 a0009c0026t0001 a0010c0009t0001 a0019c0018t0001 a0026c0057t0001 a0030c0038t0001 a0034c0049t0001 a0035c0050t0001 a0038c0051t0001 a0044c0064t0001 a0045c0063t0001 a0055c0072t0001	a0001c0001t0001g0178 a0002c0004t0001g0005 a0002c0004t0001g0031 others(48): Show a0001c0001t0001g0178 a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0208 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0053t0002g0050 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0010c0009t0001g0187 a0019c0018t0001g0056 a0019c0018t0001g0057 a0026c0057t0001g0105 a0030c0038t0001g0055 a0034c0049t0001g0039 a0035c0050t0001g0246 a0038c0051t0001g0210 a0044c0064t0001g0049 a0045c0063t0001g0191 a0055c0072t0001g0177	51	248	0.2057	12	c.324 others(29): Show c.324+8838_324+8849dupATATATATGTGT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73404899	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0231 a0008c0008t0001g0231	1	248	0.0040	12	c.325 others(29): Show c.325-3704_325-3693dupTTTTTTTTTTTT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73414475	T T	TTTTTTTT others(5): Show TTTTTTTTTTTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(83): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19058.hp2 NA19074.hp1 NA19079.hp2 NA19089.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(15): Show a0001 a0006 a0007 a0013 a0015 a0016 a0023 a0026 a0042 a0048 a0050 a0051 a0052 a0053 a0055 a0056 a0058 a0059	a0001c0001 a0001c0066 a0006c0007 others(17): Show a0001c0001 a0001c0066 a0006c0007 a0006c0010 a0007c0006 a0013c0014 a0015c0015 a0016c0016 a0023c0027 a0026c0057 a0042c0034 a0048c0059 a0050c0067 a0051c0068 a0052c0071 a0053c0070 a0055c0072 a0056c0073 a0058c0074 a0059c0076	a0001c0001t0001 a0001c0001t0004 a0001c0066t0001 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0066t0001 a0006c0007t0001 a0006c0010t0001 a0007c0006t0001 a0013c0014t0001 a0015c0015t0001 a0016c0016t0001 a0016c0016t0005 a0023c0027t0001 a0026c0057t0001 a0042c0034t0001 a0048c0059t0001 a0050c0067t0001 a0051c0068t0001 a0052c0071t0001 a0053c0070t0001 a0055c0072t0001 a0056c0073t0001 a0058c0074t0001 a0059c0076t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0248 a0001c0001t0004g0133 a0001c0066t0001g0135 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0007c0006t0001g0122 a0007c0006t0001g0127 a0007c0006t0001g0131 a0007c0006t0001g0142 a0007c0006t0001g0148 a0007c0006t0001g0152 a0007c0006t0001g0158 a0007c0006t0001g0163 a0007c0006t0001g0166 a0007c0006t0001g0173 a0007c0006t0001g0211 a0013c0014t0001g0129 a0013c0014t0001g0164 a0013c0014t0001g0172 a0013c0014t0001g0180 a0015c0015t0001g0181 a0015c0015t0001g0190 a0015c0015t0001g0214 a0016c0016t0001g0220 a0016c0016t0001g0221 a0016c0016t0005g0222 a0023c0027t0001g0161 a0026c0057t0001g0105 a0042c0034t0001g0025 a0048c0059t0001g0155 a0050c0067t0001g0223 a0051c0068t0001g0128 a0052c0071t0001g0140 a0053c0070t0001g0139 a0055c0072t0001g0177 a0056c0073t0001g0123 a0058c0074t0001g0147 a0059c0076t0001g0003	86	248	0.3468	12	c.451 others(29): Show c.451-4638_451-4637insGGTTTTTTTTTT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73441610	A A	ACTATTCC others(5): Show ACTATTCCTATTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(80): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18952.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0002 a0004 a0009 others(20): Show a0002 a0004 a0009 a0011 a0012 a0014 a0018 a0019 a0020 a0021 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0043 a0044 a0045 a0046	a0002c0004 a0002c0011 a0002c0023 others(32): Show a0002c0004 a0002c0011 a0002c0023 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0014c0021 a0014c0039 a0018c0025 a0019c0018 a0020c0019 a0021c0029 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0043c0062 a0044c0064 a0045c0063 a0046c0065	a0002c0004t0001 a0002c0011t0001 a0002c0023t0001 others(32): Show a0002c0004t0001 a0002c0011t0001 a0002c0023t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0014c0021t0001 a0014c0039t0001 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0021c0029t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0043c0062t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001	a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 others(80): Show a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0021c0029t0001g0119 a0021c0029t0001g0121 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0043c0062t0001g0120 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205	83	248	0.3347	12	c.143 others(31): Show c.1433-6338_1433-6327dupCCTATTCCTATT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73474407	G G	GTGTGTCT others(5): Show GTGTGTCTGTGTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp1 HG02055.hp2 HG03540.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0003 a0017c0017t0003	a0017c0017t0003g0224 a0017c0017t0003g0225 a0017c0017t0003g0224 a0017c0017t0003g0225	2	248	0.0081	12	c.767 others(33): Show c.7675-15224_7675-15223insGTCTGTGTCTGT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73474407	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0024 a0025 a0024 a0025	a0024c0030 a0025c0031 a0024c0030 a0025c0031	a0024c0030t0001 a0025c0031t0001 a0024c0030t0001 a0025c0031t0001	a0024c0030t0001g0227 a0025c0031t0001g0226 a0024c0030t0001g0227 a0025c0031t0001g0226	2	248	0.0081	12	c.767 others(33): Show c.7675-15224_7675-15223insGTGTGTGTCTGT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73515768	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02257.hp2 NA20129.hp2 HG01192.hp1 HG02257.hp2 NA20129.hp2	a0002 a0010 a0047 a0002 a0010 a0047	a0002c0054 a0010c0009 a0047c0061 a0002c0054 a0010c0009 a0047c0061	a0002c0054t0001 a0010c0009t0001 a0047c0061t0001 a0002c0054t0001 a0010c0009t0001 a0047c0061t0001	a0002c0054t0001g0193 a0010c0009t0001g0169 a0047c0061t0001g0183 a0002c0054t0001g0193 a0010c0009t0001g0169 a0047c0061t0001g0183	3	248	0.0121	12	c.954 others(31): Show c.9540-3981_9540-3970dupCACACACACACA		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73517246	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp1 others(30): Show HG01167.hp1 HG01169.hp1 HG01192.hp1 HG02698.hp2 HG02886.hp2 HG03017.hp1 HG03225.hp2 HG03579.hp2 HG03927.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19003.hp1 NA19074.hp2 NA19081.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0010 a0021 a0022 a0039 a0040 a0041 a0043	a0002c0004 a0003c0002 a0004c0003 others(7): Show a0002c0004 a0003c0002 a0004c0003 a0010c0009 a0021c0029 a0022c0028 a0039c0037 a0040c0036 a0041c0035 a0043c0062	a0002c0004t0001 a0003c0002t0001 a0004c0003t0002 others(7): Show a0002c0004t0001 a0003c0002t0001 a0004c0003t0002 a0010c0009t0001 a0021c0029t0001 a0022c0028t0001 a0039c0037t0001 a0040c0036t0001 a0041c0035t0001 a0043c0062t0001	a0002c0004t0001g0031 a0003c0002t0001g0008 a0003c0002t0001g0011 others(30): Show a0002c0004t0001g0031 a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0014 a0003c0002t0001g0017 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0024 a0003c0002t0001g0026 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0063 a0003c0002t0001g0092 a0004c0003t0002g0073 a0004c0003t0002g0081 a0010c0009t0001g0169 a0021c0029t0001g0119 a0021c0029t0001g0121 a0022c0028t0001g0009 a0022c0028t0001g0010 a0039c0037t0001g0032 a0040c0036t0001g0027 a0041c0035t0001g0016 a0043c0062t0001g0120	33	248	0.1331	12	c.954 others(31): Show c.9540-2523_9540-2512dupTTTTTTTTTTTT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73568995	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0184 a0010c0009t0001g0184	1	248	0.0040	12	c.103 others(33): Show c.10385-3241_10385-3230dupTTTTTTTTTTTT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73579063	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18998.hp2 HG02055.hp1 NA18998.hp2	a0002 a0003 a0002 a0003	a0002c0040 a0003c0002 a0002c0040 a0003c0002	a0002c0040t0001 a0003c0002t0001 a0002c0040t0001 a0003c0002t0001	a0002c0040t0001g0206 a0003c0002t0001g0026 a0002c0040t0001g0206 a0003c0002t0001g0026	2	248	0.0081	12	c.115 others(33): Show c.11547+5646_11547+5647insTTTTTTTTTTTT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73607810	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0024 a0025 a0024 a0025	a0024c0030 a0025c0031 a0024c0030 a0025c0031	a0024c0030t0001 a0025c0031t0001 a0024c0030t0001 a0025c0031t0001	a0024c0030t0001g0227 a0025c0031t0001g0226 a0024c0030t0001g0227 a0025c0031t0001g0226	2	248	0.0081	12	c.123 others(31): Show c.12363-658_12363-647dupTTTTTTTTTTTT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12B_chr17_8067636_8092716	8087245	C C	CACACACA others(5): Show CACACACACACAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19011.hp1 NA19066.hp2 HG01361.hp1 NA19011.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271	3	462	0.0065	12	c.147 others(25): Show c.147+50_147+51insCTGTGTGTGTGT		ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	1/14						chr17	TogoVar
ALOX12B_chr17_8067636_8092716	8087249	C C	CACACACA others(5): Show CACACACACACAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01081.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	2	462	0.0043	12	c.147 others(25): Show c.147+46_147+47insCTGTGTGTGTGT		ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	1/14						chr17	TogoVar
ALOX12B_chr17_8067636_8092716	8092328	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02630.hp1 others(2): Show HG01884.hp1 HG02258.hp1 HG02630.hp1 HG03098.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0003g0074 others(1): Show a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0003g0074 a0001c0005t0001g0188	5	462	0.0108	12	c.-48 others(23): Show c.-4887_-4886insCAAACAAACAAA		ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding					4613		chr17	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02559.hp1 NA19012.hp1 HG02135.hp1 HG02559.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	3	404	0.0074	12	c.141 others(27): Show c.1418+32_1418+33insGGGGGGGGGGGG		ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13						chr17	TogoVar
ALOX12_chr17_6991049_7015754	7011464	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02683.hp1 HG03927.hp1 HG01175.hp1 HG02683.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0047 a0001c0003t0001g0164 a0001c0003t0001g0028 a0001c0003t0001g0047 a0001c0003t0001g0164	3	404	0.0074	12	c.10 others(23): Show c.1041_*1042insTTTTTTTTTTTT		ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding					711		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG01192.hp2 others(46): Show HG00642.hp2 HG01106.hp1 HG01192.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp2 NA18948.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18968.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19002.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0011 a0012 a0024	a0001c0001 a0001c0029 a0001c0033 others(10): Show a0001c0001 a0001c0029 a0001c0033 a0002c0003 a0002c0019 a0003c0004 a0004c0006 a0004c0007 a0005c0009 a0005c0017 a0011c0020 a0012c0016 a0024c0041	a0001c0001t0001 a0001c0001t0002 a0001c0029t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0029t0004 a0001c0033t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0009 a0002c0019t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0004c0006t0003 a0004c0007t0003 a0005c0009t0003 a0005c0017t0007 a0011c0020t0001 a0012c0016t0001 a0024c0041t0001	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0183 others(32): Show a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0188 a0001c0029t0004g0195 a0001c0033t0001g0182 a0002c0003t0001g0018 a0002c0003t0001g0025 a0002c0003t0001g0089 a0002c0003t0001g0196 a0002c0003t0002g0025 a0002c0003t0009g0025 a0002c0019t0001g0040 a0003c0004t0001g0189 a0003c0004t0001g0190 a0003c0004t0001g0192 a0003c0004t0001g0263 a0003c0004t0001g0264 a0003c0004t0002g0193 a0003c0004t0002g0194 a0003c0004t0005g0191 a0004c0006t0003g0197 a0004c0006t0003g0198 a0004c0006t0003g0199 a0004c0007t0003g0065 a0004c0007t0003g0200 a0005c0009t0003g0273 a0005c0017t0007g0272 a0011c0020t0001g0040 a0012c0016t0001g0018 a0024c0041t0001g0039	49	470	0.1043	12	c.449 others(27): Show c.449+660_449+671dupGAAAGAAAGAAA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAGAGAGA others(5): Show GAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19240.hp2 HG02572.hp1 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0046 a0009c0051 a0001c0046 a0009c0051	a0001c0046t0002 a0009c0051t0001 a0001c0046t0002 a0009c0051t0001	a0001c0046t0002g0236 a0009c0051t0001g0237 a0001c0046t0002g0236 a0009c0051t0001g0237	2	470	0.0043	12	c.449 others(27): Show c.449+621_449+622insGAGAAAGAAAGA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAGAGAGA others(5): Show GAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0243 a0001c0008t0001g0243	1	470	0.0021	12	c.449 others(27): Show c.449+621_449+622insGAGAGAGAAAGA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040646	A A	AGAAAGAA others(5): Show AGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04228.hp2 HG03927.hp1 HG04228.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0013 a0001c0010t0004 a0001c0010t0013	a0001c0010t0004g0054 a0001c0010t0013g0054 a0001c0010t0004g0054 a0001c0010t0013g0054	2	470	0.0043	12	c.449 others(27): Show c.449+671_449+672insGAAGGAAAGAAA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044105	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01109.hp2 others(29): Show HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01192.hp1 HG01261.hp1 HG01943.hp2 HG01975.hp1 HG02145.hp1 HG02148.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG03490.hp2 HG03492.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18948.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19003.hp1 NA19005.hp1 NA19074.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0011 a0020	a0001c0001 a0001c0023 a0001c0036 others(7): Show a0001c0001 a0001c0023 a0001c0036 a0002c0003 a0002c0019 a0003c0004 a0003c0028 a0006c0011 a0011c0020 a0020c0038	a0001c0001t0001 a0001c0023t0002 a0001c0036t0001 others(8): Show a0001c0001t0001 a0001c0023t0002 a0001c0036t0001 a0002c0003t0001 a0002c0019t0001 a0003c0004t0001 a0003c0004t0002 a0003c0028t0002 a0006c0011t0002 a0011c0020t0001 a0020c0038t0001	a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0081 others(26): Show a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0170 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0023t0002g0038 a0001c0036t0001g0038 a0002c0003t0001g0064 a0002c0003t0001g0069 a0002c0003t0001g0181 a0002c0019t0001g0040 a0002c0019t0001g0069 a0003c0004t0001g0061 a0003c0004t0001g0164 a0003c0004t0001g0230 a0003c0004t0001g0261 a0003c0004t0001g0264 a0003c0004t0002g0061 a0003c0004t0002g0149 a0003c0004t0002g0169 a0003c0004t0002g0193 a0003c0028t0002g0154 a0006c0011t0002g0121 a0011c0020t0001g0040 a0020c0038t0001g0135	32	470	0.0681	12	c.677 others(27): Show c.677-686_677-675dupGGAAGGAAGGAA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044151	G G	GGAAGGAA others(5): Show GGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02451.hp1 HG02717.hp2 others(7): Show HG00423.hp2 HG02451.hp1 HG02717.hp2 HG02922.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 NA18944.hp1 NA18959.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0008	a0002c0002 a0004c0006 a0004c0007 others(2): Show a0002c0002 a0004c0006 a0004c0007 a0005c0009 a0008c0013	a0002c0002t0002 a0002c0002t0011 a0004c0006t0003 others(5): Show a0002c0002t0002 a0002c0002t0011 a0004c0006t0003 a0004c0006t0017 a0004c0007t0003 a0005c0009t0003 a0008c0013t0003 a0008c0013t0007	a0002c0002t0002g0109 a0002c0002t0002g0122 a0002c0002t0011g0113 others(7): Show a0002c0002t0002g0109 a0002c0002t0002g0122 a0002c0002t0011g0113 a0004c0006t0003g0197 a0004c0006t0017g0073 a0004c0007t0003g0224 a0005c0009t0003g0271 a0008c0013t0003g0252 a0008c0013t0003g0256 a0008c0013t0007g0073	10	470	0.0213	12	c.677 others(27): Show c.677-675_677-674insGGAAGGAAAGAA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar

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