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
C7orf33_chr7_148585766_148620860	148598747	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	444	0.0023	-24	c.204 others(41): Show c.204+7620_204+7643delTATATATATATATATAGAGAGAGA		C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598749	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02451.hp2 HG02922.hp2 others(4): Show HG01978.hp1 HG02451.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG06807.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0004 a0002c0002t0005	a0001c0001t0001g0341 a0001c0001t0002g0353 a0001c0001t0004g0084 others(2): Show a0001c0001t0001g0341 a0001c0001t0002g0353 a0001c0001t0004g0084 a0001c0004t0004g0352 a0002c0002t0005g0001	7	444	0.0158	-24	c.204 others(41): Show c.204+7622_204+7645delTATATATATATATAGAGAGAGAGA		C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598751	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	444	0.0023	-24	c.204 others(41): Show c.204+7624_204+7647delTATATATATATAGAGAGAGAGAGA		C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598753	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	444	0.0023	-24	c.204 others(41): Show c.204+7626_204+7649delTATATATATAGAGAGAGAGAGAGA		C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598757	TATATATA others(17): Show TATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0379 a0001c0001t0004g0379	1	444	0.0023	-24	c.204 others(41): Show c.204+7630_204+7653delTATATAGAGAGAGAGAGAGAGAGA		C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598759	TATATAGA others(17): Show TATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0387 a0001c0001t0002g0387	1	444	0.0023	-24	c.204 others(41): Show c.204+7632_204+7655delTATAGAGAGAGAGAGAGAGAGAGA		C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
C8A_chr1_56849797_56923223	56885346	ATATATAT others(17): Show ATATATATTTATGTAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00621.hp1 others(90): Show HG00323.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03704.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19090.hp1 NA20129.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0013	a0001c0001 a0001c0018 a0001c0023 others(4): Show a0001c0001 a0001c0018 a0001c0023 a0003c0003 a0004c0004 a0006c0006 a0013c0016	a0001c0001t0001 a0001c0001t0005 a0001c0018t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0018t0001 a0001c0023t0001 a0003c0003t0002 a0004c0004t0001 a0006c0006t0001 a0013c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0005g0216 a0001c0018t0001g0123 a0001c0023t0001g0071 a0003c0003t0002g0040 a0003c0003t0002g0094 a0003c0003t0002g0104 a0003c0003t0002g0198 a0003c0003t0002g0279 a0003c0003t0002g0280 a0003c0003t0002g0281 a0004c0004t0001g0039 a0006c0006t0001g0215 a0013c0016t0001g0002	93	366	0.2541	-24	c.856 others(39): Show c.856-575_856-552delATTTATGTAAATATATATTTATAT		C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
C8B_chr1_56924207_56971015	56941494	GTAGATAG others(17): Show GTAGATAGATAGATACATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00738.hp1 others(19): Show HG00323.hp1 HG00408.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01515.hp1 HG02080.hp1 HG02145.hp2 HG02622.hp1 HG03139.hp1 HG03225.hp2 HG03942.hp1 NA18952.hp1 NA18955.hp1 NA19066.hp1 NA19072.hp2 NA19080.hp2 NA19084.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0042 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0066 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0195 a0001c0001t0001g0211 a0001c0001t0001g0241 a0001c0001t0001g0269 a0001c0001t0001g0278 a0002c0002t0001g0233	22	402	0.0547	-24	c.123 others(41): Show c.1235-506_1235-483delTCTATCTATGTATCTATCTATCTA		C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding	8/11						chr1	TogoVar
C9orf57_chr9_72046376_72065613	72059247	CGAATAAG others(17): Show CGAATAAGATAACACCTAAGAGGCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0199 a0004c0007t0001g0199	1	450	0.0022	-24	c.61_ others(29): Show c.61_84delCGCCTCTTAGGTGTTATCTTATTC	p.Arg others(11): Show p.Arg21_Phe28del	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	2/5	254/1510	61/420	21/139			chr9	TogoVar
CA10_chr17_51625320_52163714	51649972	TCCAGCCA others(17): Show TCCAGCCAGCCAGTCAGCCAGCCAG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	156	0.0064	-24	c.562 others(39): Show c.562-742_562-719delCTGGCTGGCTGACTGGCTGGCTGG		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	5/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51718224	TTTAAAAT others(17): Show TTTAAAATGAAAAAAAGATTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA20300.hp2 HG02273.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0124 a0001c0001t0002g0125	2	156	0.0128	-24	c.465 others(43): Show c.465+29385_465+29408delTTTTAAATCTTTTTTTCATTTTAA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51754400	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG01516.hp1 others(4): Show HG01123.hp1 HG01358.hp1 HG01516.hp1 HG01884.hp2 HG02630.hp1 HG02723.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0153 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0153 a0001c0001t0002g0027 a0001c0001t0002g0074 a0001c0001t0002g0090 a0001c0001t0003g0064	7	156	0.0449	-24	c.280 others(41): Show c.280-6606_280-6583delATATATATATATATATATATATAT		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51849163	GTATATAT others(17): Show GTATATATATATACATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01891.hp1 HG02056.hp2 others(4): Show HG01516.hp1 HG01891.hp1 HG02056.hp2 HG02615.hp1 HG03471.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0069 a0001c0001t0001g0115 a0001c0001t0002g0012 others(4): Show a0001c0001t0001g0069 a0001c0001t0001g0115 a0001c0001t0002g0012 a0001c0001t0002g0090 a0001c0001t0003g0101 a0001c0001t0005g0001 a0001c0001t0006g0002	7	156	0.0449	-24	c.279 others(43): Show c.279+81803_279+81826delTATACATATATGTATATATATATA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51849183	GTATATAT others(17): Show GTATATATATATATACATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01099.hp2 others(37): Show HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01358.hp1 HG01516.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG04199.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0082 others(37): Show a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0136 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0106 a0001c0001t0004g0043 a0001c0001t0004g0102 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0010g0112 a0001c0001t0011g0155 a0001c0001t0012g0156 a0001c0002t0001g0060 a0001c0002t0001g0094 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0003t0001g0044	40	156	0.2564	-24	c.279 others(43): Show c.279+81783_279+81806delTACATATATGTATATATATATATA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51874955	TTTTTCTT others(17): Show TTTTTCTTTTTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	156	0.0064	-24	c.279 others(43): Show c.279+56011_279+56034delGAAAAGAAAAGAAAAAAAAGAAAA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01358.hp1 others(7): Show HG00741.hp1 HG01106.hp2 HG01358.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp1 HG03710.hp2 NA19000.hp2 NA19058.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0002g0054 a0001c0001t0002g0074 others(7): Show a0001c0001t0001g0046 a0001c0001t0002g0054 a0001c0001t0002g0074 a0001c0001t0002g0093 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0011g0155 a0001c0002t0001g0040 a0001c0002t0001g0053 a0001c0002t0001g0113	10	156	0.0641	-24	c.279 others(43): Show c.279+52137_279+52160delATATATATATATATATATATATAT		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA10_chr17_51625320_52163714	52120413	ACCTTATC others(17): Show ACCTTATCCTTATCCTTATCCTTAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02451.hp1 HG02809.hp2 others(6): Show HG01516.hp2 HG02451.hp1 HG02809.hp2 HG02818.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0154 a0001c0001t0002g0103 others(6): Show a0001c0001t0001g0097 a0001c0001t0001g0154 a0001c0001t0002g0103 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0002t0001g0133	9	156	0.0577	-24	c.61+ others(41): Show c.61+37289_61+37312delATAAGGATAAGGATAAGGATAAGG		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8						chr17	TogoVar
CA3_chr8_85433859_85454040	85450742	CATATATT others(17): Show CATATATTTACATATATTTACATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02738.hp2 others(3): Show HG02486.hp2 HG02647.hp1 HG02738.hp2 HG03139.hp2 HG03654.hp1 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0013 a0002c0002t0001 a0002c0002t0010 a0002c0002t0013	a0002c0002t0001g0003 a0002c0002t0001g0017 a0002c0002t0001g0037 others(2): Show a0002c0002t0001g0003 a0002c0002t0001g0017 a0002c0002t0001g0037 a0002c0002t0010g0001 a0002c0002t0013g0001	6	364	0.0165	-24	c.25 others(35): Show c.2590_*2613delATATATTTACATATATTTACATAT		CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding					1703		chr8	TogoVar
CA5A_chr16_87883013_87941529	87928739	CTGGATTA others(17): Show CTGGATTATTTTCTTTTCTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	400	0.0025	-24	c.143 others(41): Show c.143-1818_143-1795delAAACAAAGAAAAGAAAATAATCCA		CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	1/6						chr16	TogoVar
CA6_chr1_8940868_8980092	8977700	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA19004.hp1 HG03209.hp2 NA19004.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0009 a0003c0003 a0004c0009	a0003c0003t0005 a0004c0009t0001 a0003c0003t0005 a0004c0009t0001	a0003c0003t0005g0041 a0004c0009t0001g0206 a0003c0003t0005g0041 a0004c0009t0001g0206	2	452	0.0044	-24	c.29 others(35): Show c.2997_*3020delAAAGAAAGAAAGAAAGAAAGAAAG		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding					2609		chr1	TogoVar
CAB39L_chr13_49303650_49449064	49329544	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG04228.hp2 HG02965.hp1 HG03098.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0277 a0001c0001t0006g0283 a0001c0002t0001g0166 a0001c0001t0006g0277 a0001c0001t0006g0283 a0001c0002t0001g0166	3	324	0.0093	-24	c.834 others(41): Show c.834+2379_834+2402delATATATATATATATATATATATAT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CABCOCO1_chr10_61657929_61771766	61680671	CATATATG others(17): Show CATATATGTTATACATGTATAACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG00738.hp1 others(47): Show HG00099.hp2 HG00621.hp2 HG00738.hp1 HG01071.hp1 HG01167.hp1 HG01433.hp2 HG02055.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02602.hp2 HG02809.hp1 HG03041.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18988.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19006.hp1 NA19063.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009	a0001c0001t0001g0119 a0001c0001t0001g0143 a0001c0001t0001g0157 others(45): Show a0001c0001t0001g0119 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0226 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0002g0141 a0001c0001t0007g0136 a0001c0002t0001g0115 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0009g0139	50	374	0.1337	-24	c.165 others(39): Show c.165-441_165-418delGTTATACATGTATAACATATATAT		CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61710253	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	374	0.0027	-24	c.552 others(43): Show c.552+19651_552+19674delGTGTGTGTGTGTGTGTGTGTGTGT		CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011105	ACACACAC others(17): Show ACACACACACACACACACGCACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0235 a0001c0007t0002g0235	1	268	0.0037	-24	c.-33 others(33): Show c.-336_-313delCACACACACACACACACGCACACG		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding					198		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011139	ACGCGCGC others(17): Show ACGCGCGCACACACGCGCACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01192.hp1 HG01257.hp1 others(1): Show HG01167.hp2 HG01192.hp1 HG01257.hp1 NA21309.hp2	a0003 a0003	a0003c0005 a0003c0017 a0003c0005 a0003c0017	a0003c0005t0001 a0003c0017t0001 a0003c0005t0001 a0003c0017t0001	a0003c0005t0001g0131 a0003c0005t0001g0155 a0003c0005t0001g0156 others(1): Show a0003c0005t0001g0131 a0003c0005t0001g0155 a0003c0005t0001g0156 a0003c0017t0001g0154	4	268	0.0149	-24	c.-30 others(33): Show c.-302_-279delCGCGCGCACACACGCGCACACACG		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding					164		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011145	GCACACAC others(17): Show GCACACACGCGCACACACGCGCGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02896.hp2 others(1): Show HG02055.hp1 HG02622.hp2 HG02896.hp2 HG03098.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0234 a0001c0007t0002g0236 a0001c0007t0002g0237 others(1): Show a0001c0007t0002g0234 a0001c0007t0002g0236 a0001c0007t0002g0237 a0001c0007t0002g0238	4	268	0.0149	-24	c.-29 others(33): Show c.-296_-273delCACACACGCGCACACACGCGCGCA		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding					158		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24045334	GGTAGCTA others(17): Show GGTAGCTACAGGTAGCATGCCTGTA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	268	0.0037	-24	c.526 others(41): Show c.526+2253_526+2276delAGCTACAGGTAGCATGCCTGTAGT		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	6/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24158670	CAGCTGCA others(17): Show CAGCTGCATCCTGGTTTTTTTCTGG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	268	0.0037	-24	c.474 others(43): Show c.4747-5729_4747-5706delAGCTGCATCCTGGTTTTTTTCTGG		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36						chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0076 a0001c0003t0002g0076	1	278	0.0036	-24	c.846 others(43): Show c.846-14000_846-13977delATATATATATATATATATATATAT		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218258	ACATCCTC others(17): Show ACATCCTCACTTGCCCTGCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp2 HG02145.hp1 others(12): Show HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02523.hp2 HG02809.hp1 NA18965.hp2 NA18968.hp1 NA18975.hp1 NA18982.hp2 NA18985.hp1 NA18988.hp2 NA18998.hp2 NA19011.hp1 NA19030.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0271 a0001c0001t0002g0110 a0001c0001t0002g0213 others(12): Show a0001c0001t0001g0271 a0001c0001t0002g0110 a0001c0001t0002g0213 a0001c0001t0004g0176 a0001c0001t0004g0203 a0001c0001t0004g0218 a0001c0001t0004g0236 a0001c0001t0004g0245 a0001c0001t0004g0251 a0001c0001t0005g0202 a0001c0001t0009g0197 a0001c0001t0011g0195 a0002c0002t0002g0162 a0002c0002t0003g0122 a0002c0002t0003g0124	15	278	0.0540	-24	c.108 others(43): Show c.1088+4294_1088+4317delCCTCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218396	GTTCCCGC others(17): Show GTTCCCGCATCCTCACTTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	278	0.0036	-24	c.108 others(43): Show c.1088+4343_1088+4366delTTCCCGCATCCTCACTTGCCCTGC		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9						chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218516	CCTCCCGC others(17): Show CCTCCCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp1 HG01516.hp2 others(2): Show HG01071.hp1 HG01175.hp1 HG01516.hp2 HG03471.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0005c0007	a0001c0001t0004 a0001c0001t0031 a0001c0004t0008 others(2): Show a0001c0001t0004 a0001c0001t0031 a0001c0004t0008 a0001c0011t0015 a0005c0007t0005	a0001c0001t0004g0222 a0001c0001t0031g0027 a0001c0004t0008g0098 others(2): Show a0001c0001t0004g0222 a0001c0001t0031g0027 a0001c0004t0008g0098 a0001c0011t0015g0081 a0005c0007t0005g0224	5	278	0.0180	-24	c.108 others(43): Show c.1088+4486_1088+4509delGCTCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218636	CCTCCCGC others(17): Show CCTCCCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01975.hp1 HG02572.hp2 others(4): Show HG01106.hp1 HG01975.hp1 HG02572.hp2 HG03041.hp1 HG03041.hp2 HG04115.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0015 a0002c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014	a0001c0001t0003g0183 a0001c0001t0015g0006 a0002c0002t0001g0113 others(4): Show a0001c0001t0003g0183 a0001c0001t0015g0006 a0002c0002t0001g0113 a0002c0002t0002g0102 a0002c0002t0003g0097 a0002c0002t0003g0174 a0002c0002t0014g0131	7	278	0.0252	-24	c.108 others(43): Show c.1088+4606_1088+4629delGCTCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABS1_chr4_70329981_70342116	70334334	AAAAAAAA others(17): Show AAAAAAAAACAAAAAACAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(96): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02698.hp2 HG02717.hp1 HG03017.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19065.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19091.hp1 NA20752.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0001 a0008c0007t0001 a0001c0001t0001 a0008c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0008c0007t0001g0003	99	446	0.2220	-24	c.-70 others(33): Show c.-705_-682delAAAAAAAACAAAAAACAAAAAAAG		CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding					646		chr4	TogoVar
CACNA1A_chr19_13201442_13511479	13216647	TTATCTAT others(17): Show TTATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG03704.hp1 HG02280.hp2 HG02895.hp1 HG03704.hp1	a0001 a0020 a0034 a0001 a0020 a0034	a0001c0004 a0020c0078 a0034c0081 a0001c0004 a0020c0078 a0034c0081	a0001c0004t0001 a0020c0078t0019 a0034c0081t0019 a0001c0004t0001 a0020c0078t0019 a0034c0081t0019	a0001c0004t0001g0097 a0020c0078t0019g0151 a0034c0081t0019g0152 a0001c0004t0001g0097 a0020c0078t0019g0151 a0034c0081t0019g0152	3	218	0.0138	-24	c.573 others(43): Show c.5732-2063_5732-2040delGATAGATAGATAGATAGATAGATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346616	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0037 a0001c0072t0037	a0001c0072t0037g0213 a0001c0072t0037g0213	1	218	0.0046	-24	c.979 others(43): Show c.979-10731_979-10708delTATATATATATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346644	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0069 a0007c0009t0003g0069	1	218	0.0046	-24	c.979 others(43): Show c.979-10759_979-10736delAATATATATATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346646	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA20905.hp2 HG02040.hp2 NA20905.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0118 a0002c0002 a0007c0118	a0002c0002t0002 a0007c0118t0002 a0002c0002t0002 a0007c0118t0002	a0002c0002t0002g0130 a0007c0118t0002g0052 a0002c0002t0002g0130 a0007c0118t0002g0052	2	218	0.0092	-24	c.979 others(43): Show c.979-10761_979-10738delAAAATATATATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346648	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0032	a0001c0004t0032g0081 a0001c0004t0032g0081	1	218	0.0046	-24	c.979 others(43): Show c.979-10763_979-10740delAAAAAATATATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13376772	AACACATA others(17): Show AACACATAATATATGTGACATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG03453.hp1 HG02647.hp1 HG02717.hp1 HG03453.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0001c0106 a0023c0113 a0001c0001 a0001c0106 a0023c0113	a0001c0001t0001 a0001c0106t0001 a0023c0113t0013 a0001c0001t0001 a0001c0106t0001 a0023c0113t0013	a0001c0001t0001g0025 a0001c0106t0001g0121 a0023c0113t0013g0096 a0001c0001t0001g0025 a0001c0106t0001g0121 a0023c0113t0013g0096	3	218	0.0138	-24	c.540 others(41): Show c.540-5017_540-4994delATATATGTCACATATATTATGTGT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13376851	CACATATG others(17): Show CACATATGTTATATGTGATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18968.hp2 HG00544.hp2 NA18968.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0007c0075 a0002c0003 a0007c0075	a0002c0003t0002 a0007c0075t0003 a0002c0003t0002 a0007c0075t0003	a0002c0003t0002g0053 a0007c0075t0003g0190 a0002c0003t0002g0053 a0007c0075t0003g0190	2	218	0.0092	-24	c.540 others(41): Show c.540-5096_540-5073delATATATATCACATATAACATATGT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13456541	GCGGGCAT others(17): Show GCGGGCATCTGTAGTCCCAGCTACT	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0189 a0001c0006t0009g0189	1	218	0.0046	-24	c.294 others(41): Show c.294-1353_294-1330delAGTAGCTGGGACTACAGATGCCCG		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13490716	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0001 a0017c0040t0001	a0017c0040t0001g0008 a0017c0040t0001g0008	1	218	0.0046	-24	c.293 others(43): Show c.293+15192_293+15215delCTTTTCTCTTTCTTTCTTTCTTTC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497517	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0086 a0002c0086	a0002c0086t0003 a0002c0086t0003	a0002c0086t0003g0035 a0002c0086t0003g0035	1	218	0.0046	-24	c.293 others(41): Show c.293+8391_293+8414delATATATATATATATATATATTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497521	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp1 HG02559.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0010 a0001c0005t0004 a0001c0005t0010	a0001c0005t0004g0201 a0001c0005t0010g0202 a0001c0005t0004g0201 a0001c0005t0010g0202	2	218	0.0092	-24	c.293 others(41): Show c.293+8387_293+8410delATATATATATATATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2277358	GACAGACA others(17): Show GACAGACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0007 a0001c0025t0007	a0001c0025t0007g0012 a0001c0025t0007g0012	1	104	0.0096	-24	c.477 others(45): Show c.477+156932_477+156955delGACACACACACACACACACACACA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2358251	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 NA19030.hp2 HG02809.hp1 HG03098.hp1 NA19030.hp2	a0001 a0001	a0001c0015 a0001c0018 a0001c0020 a0001c0015 a0001c0018 a0001c0020	a0001c0015t0034 a0001c0018t0042 a0001c0020t0002 a0001c0015t0034 a0001c0018t0042 a0001c0020t0002	a0001c0015t0034g0075 a0001c0018t0042g0083 a0001c0020t0002g0010 a0001c0015t0034g0075 a0001c0018t0042g0083 a0001c0020t0002g0010	3	104	0.0289	-24	c.478 others(43): Show c.478-90691_478-90668delGTGTGTGTGTGTGTGTGTGTGTGT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53572362	GTTTGTTT others(17): Show GTTTGTTTGTTTGTTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0076 a0001c0008t0009g0076	1	210	0.0048	-24	c.483 others(43): Show c.483+70646_483+70669delGTTTGTTTGTTTATTTATTTATTT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp1 NA19074.hp1 HG00323.hp1 HG00673.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0048 a0001c0002t0025 a0001c0001t0002 a0001c0001t0048 a0001c0002t0025	a0001c0001t0002g0099 a0001c0001t0048g0086 a0001c0002t0025g0067 a0001c0001t0002g0099 a0001c0001t0048g0086 a0001c0002t0025g0067	3	210	0.0143	-24	c.111 others(41): Show c.1117-917_1117-894delGTGTGTGTGTGTGTGTGTGTGTGT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53718171	CCCTGAGG others(17): Show CCCTGAGGGCCCTTTTCACCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0001 a0001c0001t0068g0001	1	210	0.0048	-24	c.139 others(41): Show c.1391-125_1391-102delAGGGCCCTTTTCACCCTCCTCCTG		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48					INFO_REALIGN_3_PRIME	chr3	TogoVar

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