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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03579.hp1 others(4): Show HG02896.hp1 HG02897.hp2 HG03579.hp1 NA18952.hp2 NA18974.hp1 NA19058.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0002t0003	a0001c0001t0001g0065 a0001c0001t0001g0226 a0001c0001t0001g0290 others(4): Show a0001c0001t0001g0065 a0001c0001t0001g0226 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0011g0254 a0001c0001t0012g0141 a0001c0002t0003g0143	7	364	0.0192	28	c.330 others(45): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(21): Show AATATATATATATATATGTATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	364	0.0028	28	c.330 others(45): Show c.330-8721_330-8720insATATATATATACATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2969169	C C	CTCATTTA others(21): Show CTCATTTACTCACTCATCCACTCACTCAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	322	0.0031	28	c.-12 others(49): Show c.-125-10566_-125-10539dupATGAGTGAGTGGATGAGTGAGTAA ATGA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2984538	T T	TCCCTCCC others(21): Show TCCCTCCCTCCCTCCCTCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0174 a0001c0007t0001g0174	1	322	0.0031	28	c.-12 others(49): Show c.-125-25908_-125-25907insGGGAAGGGAGGGAGGGAGGGAGGG AGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CCTTTTTT others(21): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	470	0.0021	28	c.31 others(39): Show c.3186_*3187insAAAAAAAAAAAAAAAAAAAAAAAAAAAG	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02132.hp2 HG01081.hp1 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0171 a0001c0002t0002g0152 a0001c0002t0002g0171	2	470	0.0043	28	c.31 others(39): Show c.3159_*3186dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	470	0.0021	28	c.281 others(45): Show c.281+1059_281+1086dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25314549	T T	TACATATA others(21): Show TACATATATATGTATGTATACATTCACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(63): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01884.hp2 HG01952.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18970.hp2 NA18983.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19063.hp2 NA19072.hp1 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0015 a0001c0018 a0001c0022 a0001c0031 a0001c0032 a0001c0033 a0002c0005 a0002c0007 a0002c0013 a0002c0028 a0003c0023 a0004c0011 a0005c0019 a0007c0021 a0012c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(39): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0004t0002 a0001c0004t0004 a0001c0004t0012 a0001c0004t0014 a0001c0004t0018 a0001c0006t0002 a0001c0006t0003 a0001c0008t0001 a0001c0009t0009 a0001c0009t0017 a0001c0015t0004 a0001c0018t0001 a0001c0022t0002 a0001c0031t0004 a0001c0032t0011 a0001c0033t0001 a0002c0005t0003 a0002c0007t0006 a0002c0007t0020 a0002c0013t0003 a0002c0028t0003 a0003c0023t0002 a0004c0011t0003 a0004c0011t0006 a0004c0011t0013 a0005c0019t0001 a0007c0021t0017 a0012c0026t0002	a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0065 others(63): Show a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0125 a0001c0001t0003g0071 a0001c0001t0005g0095 a0001c0001t0008g0101 a0001c0001t0008g0133 a0001c0001t0012g0179 a0001c0001t0015g0176 a0001c0001t0019g0014 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0005g0157 a0001c0002t0005g0175 a0001c0002t0005g0180 a0001c0002t0008g0013 a0001c0002t0012g0174 a0001c0003t0002g0002 a0001c0003t0002g0010 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0052 a0001c0003t0003g0053 a0001c0003t0010g0185 a0001c0004t0002g0015 a0001c0004t0002g0043 a0001c0004t0004g0023 a0001c0004t0004g0036 a0001c0004t0004g0039 a0001c0004t0004g0040 a0001c0004t0012g0177 a0001c0004t0014g0178 a0001c0004t0018g0093 a0001c0006t0002g0074 a0001c0006t0002g0099 a0001c0006t0003g0069 a0001c0008t0001g0003 a0001c0008t0001g0066 a0001c0008t0001g0100 a0001c0009t0009g0046 a0001c0009t0017g0166 a0001c0015t0004g0098 a0001c0018t0001g0075 a0001c0018t0001g0094 a0001c0022t0002g0108 a0001c0031t0004g0004 a0001c0032t0011g0097 a0001c0033t0001g0124 a0002c0005t0003g0073 a0002c0007t0006g0033 a0002c0007t0006g0035 a0002c0007t0020g0181 a0002c0013t0003g0067 a0002c0028t0003g0038 a0003c0023t0002g0072 a0004c0011t0003g0077 a0004c0011t0006g0044 a0004c0011t0013g0055 a0005c0019t0001g0034 a0007c0021t0017g0167 a0012c0026t0002g0070	66	186	0.3548	28	c.138 others(47): Show c.138+29642_138+29669dupCATATATATGTATGTATACATTCACA CA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332762	C C	CACACACA others(21): Show CACACACACACACACACACACACACGCAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp1 HG02486.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0020 a0001c0002t0001 a0002c0007t0020	a0001c0002t0001g0105 a0002c0007t0020g0181 a0001c0002t0001g0105 a0002c0007t0020g0181	2	186	0.0108	28	c.138 others(47): Show c.138+47863_138+47864insACACACACACACACGCATACACACAC AC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25387114	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0003t0010 a0001c0001t0015 a0001c0003t0010	a0001c0001t0015g0184 a0001c0003t0010g0185 a0001c0001t0015g0184 a0001c0003t0010g0185	2	186	0.0108	28	c.139 others(47): Show c.139-32981_139-32980insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0001 a0011c0036t0001	a0011c0036t0001g0001 a0011c0036t0001g0001	1	186	0.0054	28	c.371 others(45): Show c.371+5734_371+5735insATATATATATATATATATATATATGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01167.hp2 others(1): Show HG00609.hp2 HG00673.hp1 HG01167.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0037 a0002c0007 a0001c0001 a0001c0037 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0001c0037t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0037t0002 a0002c0007t0003	a0001c0001t0001g0068 a0001c0001t0006g0061 a0001c0037t0002g0083 others(1): Show a0001c0001t0001g0068 a0001c0001t0006g0061 a0001c0037t0002g0083 a0002c0007t0003g0024	4	186	0.0215	28	c.615 others(45): Show c.615-6631_615-6604dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(21): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	321	0.0031	28	c.802 others(45): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(21): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	321	0.0031	28	c.802 others(45): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18968.hp1 HG02074.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0198 a0001c0001t0005g0339 a0001c0001t0003g0198 a0001c0001t0005g0339	2	406	0.0049	28	c.-1+ others(43): Show c.-1+7831_-1+7858dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASQ2_chr1_115695021_115773714	115761528	A A	AGAAGAAG others(21): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG02071.hp1 others(12): Show HG00438.hp1 HG00597.hp2 HG02071.hp1 HG02280.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA19001.hp1 NA19005.hp2 NA19066.hp1 NA19074.hp2 NA19078.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0002c0004 others(1): Show a0001c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0002t0006 a0002c0003t0001 a0002c0003t0006 others(4): Show a0001c0002t0006 a0002c0003t0001 a0002c0003t0006 a0002c0004t0002 a0002c0004t0004 a0002c0004t0015 a0003c0005t0001	a0001c0002t0006g0040 a0002c0003t0001g0286 a0002c0003t0001g0333 others(12): Show a0001c0002t0006g0040 a0002c0003t0001g0286 a0002c0003t0001g0333 a0002c0003t0001g0353 a0002c0003t0001g0357 a0002c0003t0006g0320 a0002c0003t0006g0331 a0002c0004t0002g0289 a0002c0004t0002g0334 a0002c0004t0004g0287 a0002c0004t0004g0290 a0002c0004t0004g0332 a0002c0004t0015g0330 a0003c0005t0001g0234 a0003c0005t0001g0239	15	364	0.0412	28	c.234 others(45): Show c.234+6779_234+6780insCTTCTTCTTCTTCTTCTTCTTCTTCTTC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	314	0.0032	28	c.-24 others(47): Show c.-242-1527_-242-1500dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(21): Show AGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp2 HG03195.hp2 HG00323.hp2 HG01884.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0041 a0001c0001t0003 a0001c0001t0041	a0001c0001t0003g0022 a0001c0001t0003g0206 a0001c0001t0041g0149 a0001c0001t0003g0022 a0001c0001t0003g0206 a0001c0001t0041g0149	3	314	0.0096	28	c.-24 others(47): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAGAAAGAA AG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(21): Show AGGAAGGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18956.hp1 NA20300.hp1 HG00639.hp2 NA18956.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0087 a0001c0001t0003g0190 a0002c0002t0002g0083 a0001c0001t0001g0087 a0001c0001t0003g0190 a0002c0002t0002g0083	3	314	0.0096	28	c.-24 others(47): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAGAAAGAA AG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02132.hp1 NA18965.hp2 HG02080.hp1 HG02132.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0046 a0001c0001t0001g0253 a0002c0002t0002g0275 a0001c0001t0001g0046 a0001c0001t0001g0253 a0002c0002t0002g0275	3	314	0.0096	28	c.-24 others(47): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAGAAAGAAAGAA AG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0210 a0002c0002t0012g0210	1	314	0.0032	28	c.-24 others(47): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAGGAAAAAGAA AG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(21): Show AGGTAGGAAGGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	314	0.0032	28	c.-24 others(47): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAGAAAGAAAGAA AG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(21): Show ACACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp2 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	228	0.0088	28	c.113 others(43): Show c.113+785_113+786insACACACACACACACACTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(21): Show ACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0061 a0001c0001t0014g0062 a0001c0001t0002g0061 a0001c0001t0014g0062	2	228	0.0088	28	c.113 others(43): Show c.113+785_113+786insACACACACACACACTCTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96662320	G G	GCTCCCTC others(21): Show GCTCCCTCCCTCCCTCCCTCCCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00621.hp1 others(90): Show HG00323.hp1 HG00423.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0013	a0001c0001 a0001c0011 a0002c0003 others(9): Show a0001c0001 a0001c0011 a0002c0003 a0002c0004 a0002c0006 a0003c0007 a0004c0008 a0005c0010 a0008c0014 a0009c0023 a0010c0016 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0011t0002 a0002c0003t0003 a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0002c0006t0001 a0003c0007t0002 a0004c0008t0007 a0005c0010t0014 a0005c0010t0024 a0008c0014t0002 a0009c0023t0003 a0010c0016t0011 a0013c0019t0001	a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0063 others(89): Show a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0002g0003 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0010g0023 a0001c0011t0002g0102 a0001c0011t0002g0103 a0001c0011t0002g0104 a0002c0003t0003g0100 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0053 a0002c0004t0001g0101 a0002c0004t0001g0113 a0002c0004t0001g0115 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0120 a0002c0004t0001g0126 a0002c0004t0003g0124 a0002c0004t0005g0105 a0002c0006t0001g0040 a0002c0006t0001g0041 a0003c0007t0002g0050 a0003c0007t0002g0112 a0004c0008t0007g0061 a0005c0010t0014g0043 a0005c0010t0014g0044 a0005c0010t0014g0131 a0005c0010t0024g0042 a0008c0014t0002g0110 a0008c0014t0002g0111 a0009c0023t0003g0039 a0010c0016t0011g0026 a0013c0019t0001g0114	93	358	0.2598	28	c.-10 others(37): Show c.-103_-102insCTCCCTCCCTCCCTCCCTCCCTCTCTCC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding		55		chr5	TogoVar
CASZ1_chr1_10631604_10801646	10700078	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0042 a0001c0001t0013g0042	1	236	0.0042	28	c.-24 others(45): Show c.-24+5413_-24+5414insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp2 HG02109.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0037 a0001c0004 a0002c0037	a0001c0004t0001 a0002c0037t0061 a0001c0004t0001 a0002c0037t0061	a0001c0004t0001g0205 a0002c0037t0061g0174 a0001c0004t0001g0205 a0002c0037t0061g0174	2	236	0.0085	28	c.-24 others(45): Show c.-24+5384_-24+5411dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp1 NA18951.hp1 HG02559.hp1 NA18906.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057	3	366	0.0082	28	c.118 others(42): Show c.118+76_118+103dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER1_chr11_66011752_66031479	66013693	T T	TTGGGGGG others(21): Show TTGGGGGGGGGGGGGGGGGGGTTTTCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0075 a0004c0006t0003g0075	1	408	0.0025	28	c.31 others(39): Show c.3196_*3197insCCAGAAAACCCCCCCCCCCCCCCCCCCA	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding		3058		chr11	TogoVar
CATSPER2_chr15_43623503_43653844	43627116	C C	CTCCTATT others(21): Show CTCCTATTTGGGGTTTGTCGTGGATGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	392	0.0026	28	c.35 others(39): Show c.3584_*3585insCCCCATCCACGACAAACCCCAAATAGGA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding		1386		chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02109.hp1 HG02970.hp1 others(2): Show HG01346.hp1 HG02109.hp1 HG02970.hp1 NA18951.hp2 NA18953.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0003t0003g0082 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0003t0003g0082 a0002c0002t0002g0010	5	398	0.0126	28	c.39 others(39): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91654960	T T	TCCTGGTA others(21): Show TCCTGGTAATACAGTCTCTTCCTGTAATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	271	0.0037	28	c.143 others(47): Show c.1432+4849_1432+4876dupTATTACAGGAAGAGACTGTATTACCA GG	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp1 NA18906.hp2 HG02970.hp2 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0117 a0001c0002t0002g0193 a0001c0002t0002g0252 a0001c0001t0002g0117 a0001c0002t0002g0193 a0001c0002t0002g0252	3	271	0.0111	28	c.128 others(47): Show c.1288-1544_1288-1543insATATATATATATATATATATATATAT AT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736501	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01884.hp1 others(5): Show HG01175.hp1 HG01192.hp1 HG01884.hp1 HG03195.hp2 NA18939.hp1 NA18955.hp2 NA18956.hp2 NA18973.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0002t0002 a0005c0009t0002 a0001c0001t0001 a0001c0002t0002 a0005c0009t0002	a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0086 others(5): Show a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0002t0002g0128 a0001c0002t0002g0129 a0005c0009t0002g0127	8	271	0.0295	28	c.-46 others(39): Show c.-4600_-4573dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4416		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736526	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02040.hp1 NA18947.hp2 others(1): Show HG01074.hp1 HG02040.hp1 NA18947.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0065 a0001c0001t0001g0105 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0002t0002g0069	4	271	0.0148	28	c.-45 others(39): Show c.-4598_-4597insGCCTTCCTTCCTTCCTTCCTTCCTTCCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4441		chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	336	0.0030	28	c.-44 others(39): Show c.-4479_-4478insATATATATATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0001 a0016c0013t0001	a0016c0013t0001g0009 a0016c0013t0001g0009	1	336	0.0030	28	c.277 others(43): Show c.277-548_277-521dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0237 a0002c0027t0001g0237	1	336	0.0030	28	c.142 others(47): Show c.1428-1156_1428-1155insATATATATATATATATATATATTTTT TT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18522.hp2 HG03942.hp1 NA18522.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0186 a0005c0006t0001g0213 a0002c0002t0001g0186 a0005c0006t0001g0213	2	336	0.0060	28	c.142 others(47): Show c.1428-1156_1428-1155insATATATATATATATATATATTTTTTT TT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	336	0.0030	28	c.142 others(47): Show c.1428-1156_1428-1155insATATATATATATATATATTTTTTTTT TT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02258.hp2 HG01934.hp1 HG02258.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0033 a0005c0006t0001g0207 a0001c0001t0001g0033 a0005c0006t0001g0207	2	336	0.0060	28	c.142 others(47): Show c.1428-1156_1428-1155insATATATATATATATATTTTTTTTTTT TT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATTATA others(21): Show ATATTATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0321 a0004c0003t0001g0321	1	336	0.0030	28	c.142 others(47): Show c.1428-1156_1428-1155insATTATATATATATATATATATATTTT TT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01106.hp2 others(16): Show HG00438.hp1 HG00438.hp2 HG01106.hp2 HG01175.hp1 HG01261.hp1 HG02027.hp2 HG02074.hp2 HG02135.hp1 HG02683.hp1 HG03490.hp1 HG03710.hp2 HG04184.hp2 NA18522.hp1 NA18967.hp2 NA18972.hp1 NA18974.hp1 NA18999.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0012 a0013	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0004c0044 a0007c0010 a0012c0015 a0013c0031	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0004c0003t0001 a0004c0003t0003 a0004c0044t0001 a0007c0010t0001 a0012c0015t0001 a0013c0031t0001	a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0136 others(16): Show a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0136 a0001c0001t0001g0177 a0001c0001t0001g0210 a0001c0001t0001g0220 a0002c0002t0001g0057 a0002c0002t0001g0235 a0002c0002t0001g0298 a0003c0004t0001g0109 a0003c0004t0001g0158 a0004c0003t0001g0218 a0004c0003t0001g0242 a0004c0003t0001g0307 a0004c0003t0003g0053 a0004c0044t0001g0211 a0007c0010t0001g0029 a0012c0015t0001g0122 a0013c0031t0001g0036	19	336	0.0566	28	c.150 others(45): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244584540	A A	ATATTATA others(21): Show ATATTATATTATATTATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02647.hp1 others(2): Show HG01496.hp1 HG01891.hp1 HG02647.hp1 HG02896.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003	a0001c0003t0001g0031 a0001c0003t0001g0089 a0001c0003t0001g0198 others(2): Show a0001c0003t0001g0031 a0001c0003t0001g0089 a0001c0003t0001g0198 a0001c0003t0002g0006 a0001c0003t0003g0190	5	206	0.0243	28	c.208 others(45): Show c.2085+604_2085+605insTATATTATATTATATTATATTATATTAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244623058	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0004 a0010c0014t0004	a0010c0014t0004g0161 a0010c0014t0004g0161	1	206	0.0049	28	c.264 others(47): Show c.2648+5376_2648+5403dupATTTATTTATTTATTTATTTATTTAT TT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344882	C C	CACACACA others(21): Show CACACACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	376	0.0027	28	c.669 others(43): Show c.669+515_669+516insCACACACACACACACACACATATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116523234	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	342	0.0029	28	c.-18 others(39): Show c.-1829_-1828insAAGGAAGGAAGGAAGGAAGGAAGGAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1801		chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	342	0.0029	28	c.195 others(45): Show c.195+7707_195+7708insATATATATATATATATATATATTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18953.hp1 NA19056.hp1 HG01123.hp1 NA18953.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0183 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0001g0183 a0001c0001t0003g0287 a0001c0001t0003g0288	3	342	0.0088	28	c.195 others(45): Show c.195+7707_195+7708insATATATATATATATATATATTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0009 a0001c0001t0001g0017 a0001c0001t0002g0009	3	342	0.0088	28	c.195 others(45): Show c.195+7707_195+7708insATATATATATATATATATTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar

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