Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
C8orf74_chr8_10667628_10705590	10698891	TACACACA others(6): Show TACACACACACCAC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	430	0.0023	-13	c.648 others(28): Show c.648+897_648+909delCACACACACACAC		C8orf74	ENSG00000171060.11	transcript	ENST00000304519.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141521876	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	450	0.0022	-13	c.31 others(24): Show c.3162_*3174delTTTTTTTTTTTTT		C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding					3148		chr8	TogoVar
C9orf152_chr9_110194561_110213159	110195318	TTGGGAGG others(6): Show TTGGGAGGCCAAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA19078.hp2 HG02165.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0017 a0001c0001t0008g0009 a0001c0001t0008g0017	2	466	0.0043	-13	c.56 others(24): Show c.5617_*5629delCCTTGGCCTCCCA		C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding					4242		chr9	TogoVar
C9orf50_chr9_129607225_129626101	129622710	GATCATTT others(6): Show GATCATTTGAGACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0002	1	410	0.0024	-13	c.-21 others(24): Show c.-2149_-2137delAGTCTCAAATGAT		C9orf50	ENSG00000179058.8	transcript	ENST00000372478.5	protein_coding					1610		chr9	TogoVar
C9orf85_chr9_71906639_71978457	71977349	ATAGCACT others(6): Show ATAGCACTTACGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	250	0.0040	-13	c.45 others(24): Show c.4508_*4520delTAGCACTTACGTG		C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding					3893		chr9	TogoVar
CA10_chr17_51625320_52163714	51871050	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01884.hp1 HG01891.hp1 others(13): Show HG01516.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0002g0012 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0003g0101 a0001c0001t0003g0138 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0145 a0001c0001t0005g0001 a0001c0001t0006g0002	16	156	0.1026	-13	c.279 others(32): Show c.279+59927_279+59939delAAAAAAAAAAAAA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51874956	TTTTCTTT others(6): Show TTTTCTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	156	0.0064	-13	c.279 others(32): Show c.279+56021_279+56033delGAAAAAAAAGAAA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA10_chr17_51625320_52163714	52160797	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	156	0.0064	-13	c.-30 others(24): Show c.-3024_-3012delGAAAGAAAGAAAG		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding					2084		chr17	TogoVar
CA4_chr17_60144973_60164546	60150654	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp2 HG03579.hp2 others(2): Show HG02647.hp2 HG03225.hp2 HG03579.hp2 NA18995.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0040 a0001c0001t0002g0116 a0001c0001t0002g0117 others(1): Show a0001c0001t0002g0040 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0002t0001g0152	5	380	0.0132	-13	c.58+ others(26): Show c.58+586_58+598delAAAAAAAAAAAAA		CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
CA5A_chr16_87883013_87941529	87892547	AATAATAA others(6): Show AATAATAATAAATT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0018 a0002c0010t0002g0018	1	400	0.0025	-13	c.619 others(28): Show c.619-606_619-594delAATTTATTATTAT		CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6						chr16	TogoVar
CA5B_chrX_15733270_15793411	15746022	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG01884.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0039 a0001c0001t0008g0040	2	274	0.0073	-13	c.-53 others(30): Show c.-53-3936_-53-3924delTTTTTTTTTTTTT		CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
CA6_chr1_8940868_8980092	8946793	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0427 a0009c0010t0001g0427	1	452	0.0022	-13	c.79+ others(26): Show c.79+840_79+852delGTTTTTTTTTTTT		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAAP1_chr9_26835685_26897802	26846415	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	372	0.0027	-13	c.740 others(30): Show c.740-3781_740-3769delTTTTTTTTTTTTT		CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5						chr9	TogoVar
CAAP1_chr9_26835685_26897802	26874761	AAAGGAGC others(6): Show AAAGGAGCTATCTT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19080.hp2 NA18951.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0304 a0001c0002t0001g0332 a0001c0002t0001g0304 a0001c0002t0001g0332	2	372	0.0054	-13	c.665 others(32): Show c.665+10036_665+10048delAAGATAGCTCCTT		CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5						chr9	TogoVar
CAB39L_chr13_49303650_49449064	49304772	GTGAGCAA others(6): Show GTGAGCAACCCTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	324	0.0031	-13	c.60 others(24): Show c.6029_*6041delAGAGGGTTGCTCA		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding					3877		chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329543	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	324	0.0031	-13	c.834 others(30): Show c.834+2391_834+2403delATATATATATATT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329545	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01433.hp2 HG02056.hp1 others(1): Show HG00639.hp2 HG01433.hp2 HG02056.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0273 a0001c0002t0001g0152	4	324	0.0124	-13	c.834 others(30): Show c.834+2389_834+2401delATATATATATATA		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CAB39_chr2_230707842_230826075	230748826	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19004.hp1 HG02129.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0213 a0001c0001t0003g0181 a0001c0001t0003g0213	2	342	0.0059	-13	c.-43 others(32): Show c.-43-11131_-43-11119delAAAAATATATATA		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748832	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0231 a0001c0001t0061g0231	1	342	0.0029	-13	c.-43 others(32): Show c.-43-11126_-43-11114delTATATATATATAT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8						chr2	TogoVar
CAB39_chr2_230707842_230826075	230754327	TTCTTCTT others(6): Show TTCTTCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG01168.hp2 others(76): Show HG00099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01891.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03710.hp1 HG03927.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0004 others(1): Show a0001c0001 a0001c0005 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0005t0012 a0002c0004t0033 a0003c0003t0012	a0001c0001t0001g0026 a0001c0001t0003g0180 a0001c0001t0003g0181 others(76): Show a0001c0001t0001g0026 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0006g0029 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0201 a0001c0001t0006g0211 a0001c0001t0006g0217 a0001c0001t0006g0225 a0001c0001t0012g0173 a0001c0001t0012g0174 a0001c0001t0012g0175 a0001c0001t0012g0238 a0001c0001t0016g0165 a0001c0001t0016g0184 a0001c0001t0016g0185 a0001c0001t0016g0187 a0001c0001t0020g0203 a0001c0001t0020g0204 a0001c0001t0020g0205 a0001c0001t0021g0166 a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0001t0028g0028 a0001c0001t0029g0304 a0001c0001t0031g0030 a0001c0001t0031g0198 a0001c0001t0032g0322 a0001c0001t0032g0323 a0001c0001t0033g0172 a0001c0001t0034g0190 a0001c0001t0042g0027 a0001c0001t0062g0200 a0001c0001t0063g0193 a0001c0001t0064g0183 a0001c0001t0065g0031 a0001c0001t0066g0202 a0001c0001t0067g0206 a0001c0001t0068g0199 a0001c0001t0069g0167 a0001c0001t0070g0170 a0001c0001t0071g0177 a0001c0001t0072g0176 a0001c0005t0012g0179 a0002c0004t0033g0171 a0003c0003t0012g0178	79	342	0.2310	-13	c.-43 others(30): Show c.-43-5609_-43-5597delTTCCTCTTCTTCC		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230768812	ATTAATTT others(6): Show ATTAATTTAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03710.hp1 HG00099.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0068 a0001c0001t0034 a0001c0001t0068	a0001c0001t0034g0190 a0001c0001t0068g0199 a0001c0001t0034g0190 a0001c0001t0068g0199	2	342	0.0059	-13	c.114 others(30): Show c.114+8698_114+8710delTTAATTTAAAAAG		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8						chr2	TogoVar
CABIN1_chr22_24006304_24183628	24019117	GTTGTTTT others(6): Show GTTGTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0121 a0005c0013t0001g0121	1	268	0.0037	-13	c.-75 others(30): Show c.-75+7753_-75+7765delGTTTTTTTTTTTT		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24113620	ACTTCTTT others(6): Show ACTTCTTTAATGAG	A A	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0174 a0011c0021t0001g0174	1	268	0.0037	-13	c.417 others(22): Show c.4174_4186delTTCTTTAATGAGC	p.Phe others(6): Show p.Phe1392fs	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	27/37	4312/7233	4174/6663	1392/2220		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24168289	ACGGCTGG others(6): Show ACGGCTGGCTATTC	A A	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	268	0.0037	-13	c.568 others(30): Show c.5683-157_5683-145delCGGCTGGCTATTC		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	32/36						chr22	TogoVar
CABLES1_chr18_23130485_23265470	23181496	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04115.hp1 NA20905.hp2 HG03669.hp1 HG04115.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0002 a0001c0001 a0001c0014 a0002c0002	a0001c0001t0041 a0001c0014t0036 a0002c0002t0001 a0001c0001t0041 a0001c0014t0036 a0002c0002t0001	a0001c0001t0041g0252 a0001c0014t0036g0079 a0002c0002t0001g0113 a0001c0001t0041g0252 a0001c0014t0036g0079 a0002c0002t0001g0113	3	278	0.0108	-13	c.846 others(30): Show c.846-7323_846-7311delAAAAAAAAAAAAA		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23191906	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19065.hp1 NA18971.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0276 a0001c0001t0006g0273 a0001c0001t0001g0276 a0001c0001t0006g0273	2	278	0.0072	-13	c.918 others(30): Show c.918-2519_918-2507delAAAAAAAAAAAAA		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23264353	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02280.hp2 others(6): Show HG01884.hp1 HG02055.hp1 HG02280.hp2 HG02615.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03540.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0002 a0001c0001t0019 a0001c0001t0052 others(3): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0052 a0002c0002t0002 a0002c0002t0019 a0002c0005t0051	a0001c0001t0002g0065 a0001c0001t0002g0115 a0001c0001t0019g0005 others(6): Show a0001c0001t0002g0065 a0001c0001t0002g0115 a0001c0001t0019g0005 a0001c0001t0019g0126 a0001c0001t0052g0001 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0019g0119 a0002c0005t0051g0120	9	278	0.0324	-13	c.69 others(24): Show c.6987_*6999delTTTTTTTTTTTTT		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding					3884		chr18	TogoVar
CABP1_chr12_120635626_120672324	120647560	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	418	0.0024	-13	c.654 others(30): Show c.654+6234_654+6246delTTTTTTTTTTTTT		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP5_chr19_48024383_48049079	48046569	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0229 a0001c0002t0004g0229	1	376	0.0027	-13	c.-26 others(24): Show c.-2660_-2648delTTTTTTTTTTTTT		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding					2491		chr19	TogoVar
CACHD1_chr1_64465129_64698053	64500733	AAAGAGAG others(6): Show AAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	166	0.0060	-13	c.198 others(32): Show c.198+29793_198+29805delAGAGAGAGAGAGA		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64643036	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20300.hp1 HG03195.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0015 a0003c0010t0001 a0001c0001t0015 a0003c0010t0001	a0001c0001t0015g0048 a0003c0010t0001g0088 a0001c0001t0015g0048 a0003c0010t0001g0088	2	166	0.0121	-13	c.115 others(32): Show c.1156+1090_1156+1102delAAAAAAAAAAAAA		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	8/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13259330	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00544.hp2 others(28): Show HG00423.hp1 HG00544.hp1 HG00544.hp2 HG01256.hp1 HG01496.hp1 HG01981.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02559.hp2 HG03540.hp2 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18948.hp2 NA18964.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18998.hp2 NA19012.hp2 NA19065.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0030 a0031 a0041 a0045	a0001c0004 a0001c0005 a0001c0006 others(19): Show a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0002c0003 a0002c0070 a0003c0013 a0004c0080 a0005c0024 a0005c0102 a0006c0011 a0006c0029 a0007c0009 a0007c0075 a0007c0118 a0008c0008 a0008c0012 a0009c0014 a0030c0062 a0031c0061 a0041c0067 a0045c0036	a0001c0004t0001 a0001c0005t0004 a0001c0005t0010 others(25): Show a0001c0004t0001 a0001c0005t0004 a0001c0005t0010 a0001c0005t0047 a0001c0006t0009 a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0003 a0002c0070t0007 a0003c0013t0007 a0004c0080t0009 a0005c0024t0008 a0005c0102t0003 a0006c0011t0003 a0006c0029t0003 a0007c0009t0003 a0007c0009t0034 a0007c0075t0003 a0007c0118t0002 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0009c0014t0046 a0030c0062t0002 a0031c0061t0003 a0041c0067t0002 a0045c0036t0028	a0001c0004t0001g0199 a0001c0005t0004g0201 a0001c0005t0010g0202 others(28): Show a0001c0004t0001g0199 a0001c0005t0004g0201 a0001c0005t0010g0202 a0001c0005t0047g0024 a0001c0006t0009g0189 a0002c0002t0002g0011 a0002c0002t0002g0095 a0002c0002t0003g0181 a0002c0003t0002g0053 a0002c0003t0003g0061 a0002c0003t0003g0177 a0002c0070t0007g0102 a0003c0013t0007g0041 a0004c0080t0009g0129 a0005c0024t0008g0214 a0005c0102t0003g0122 a0006c0011t0003g0070 a0006c0029t0003g0169 a0007c0009t0003g0031 a0007c0009t0034g0163 a0007c0075t0003g0190 a0007c0118t0002g0052 a0008c0008t0002g0099 a0008c0008t0002g0125 a0008c0012t0003g0091 a0008c0012t0006g0120 a0009c0014t0046g0176 a0030c0062t0002g0124 a0031c0061t0003g0106 a0041c0067t0002g0172 a0045c0036t0028g0173	31	218	0.1422	-13	c.438 others(30): Show c.4388+221_4388+233delCAAAAAAAAAAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	27/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310454	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03942.hp2 NA18980.hp2 HG01106.hp1 HG03942.hp2 NA18980.hp2	a0006 a0027 a0040 a0006 a0027 a0040	a0006c0011 a0027c0064 a0040c0069 a0006c0011 a0027c0064 a0040c0069	a0006c0011t0003 a0027c0064t0004 a0040c0069t0014 a0006c0011t0003 a0027c0064t0004 a0040c0069t0014	a0006c0011t0003g0070 a0027c0064t0004g0101 a0040c0069t0014g0040 a0006c0011t0003g0070 a0027c0064t0004g0101 a0040c0069t0014g0040	3	218	0.0138	-13	c.166 others(32): Show c.1669-1939_1669-1927delTTTTTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310478	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01981.hp1 HG02040.hp1 others(5): Show HG01081.hp2 HG01981.hp1 HG02040.hp1 HG02165.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA19000.hp2	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0039	a0001c0004 a0001c0005 a0008c0008 others(3): Show a0001c0004 a0001c0005 a0008c0008 a0008c0012 a0011c0025 a0039c0068	a0001c0004t0001 a0001c0005t0001 a0008c0008t0002 others(4): Show a0001c0004t0001 a0001c0005t0001 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0011c0025t0011 a0039c0068t0001	a0001c0004t0001g0199 a0001c0005t0001g0187 a0008c0008t0002g0033 others(5): Show a0001c0004t0001g0199 a0001c0005t0001g0187 a0008c0008t0002g0033 a0008c0008t0002g0099 a0008c0012t0003g0015 a0008c0012t0006g0120 a0011c0025t0011g0038 a0039c0068t0001g0171	8	218	0.0367	-13	c.166 others(32): Show c.1669-1963_1669-1951delATTTTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310480	AAAAAAAA others(6): Show AAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0093 a0011c0025t0001g0093	1	218	0.0046	-13	c.166 others(32): Show c.1669-1965_1669-1953delATATTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346654	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0043 a0043	a0043c0091 a0043c0091	a0043c0091t0005 a0043c0091t0005	a0043c0091t0005g0027 a0043c0091t0005g0027	1	218	0.0046	-13	c.979 others(32): Show c.979-10758_979-10746delATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346656	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0033 a0033	a0033c0088 a0033c0088	a0033c0088t0001 a0033c0088t0001	a0033c0088t0001g0207 a0033c0088t0001g0207	1	218	0.0046	-13	c.979 others(32): Show c.979-10760_979-10748delAAATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346658	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0185 a0002c0019t0002g0185	1	218	0.0046	-13	c.979 others(32): Show c.979-10762_979-10750delAAAAATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346660	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0188 a0001c0020t0001g0188	1	218	0.0046	-13	c.979 others(32): Show c.979-10764_979-10752delAAAAAAATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13393491	TTTTCCTT others(6): Show TTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01496.hp2 HG01884.hp2 others(17): Show HG00544.hp1 HG01496.hp2 HG01884.hp2 HG02129.hp1 HG02293.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp1 HG02976.hp1 HG03225.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03942.hp1 NA18944.hp2 NA18955.hp2 NA18998.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0007 a0009 a0013 a0015 a0043	a0001c0001 a0001c0004 a0001c0006 others(14): Show a0001c0001 a0001c0004 a0001c0006 a0001c0026 a0001c0034 a0001c0098 a0002c0003 a0002c0010 a0002c0124 a0004c0007 a0004c0047 a0004c0080 a0007c0009 a0009c0014 a0013c0027 a0015c0021 a0043c0091	a0001c0001t0001 a0001c0004t0001 a0001c0006t0005 others(15): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0005 a0001c0026t0031 a0001c0034t0001 a0001c0098t0001 a0002c0003t0003 a0002c0010t0002 a0002c0124t0006 a0004c0007t0004 a0004c0047t0001 a0004c0080t0009 a0007c0009t0038 a0009c0014t0002 a0013c0027t0001 a0015c0021t0004 a0015c0021t0010 a0043c0091t0005	a0001c0001t0001g0182 a0001c0004t0001g0078 a0001c0006t0005g0110 others(17): Show a0001c0001t0001g0182 a0001c0004t0001g0078 a0001c0006t0005g0110 a0001c0026t0031g0104 a0001c0034t0001g0068 a0001c0098t0001g0112 a0002c0003t0003g0127 a0002c0010t0002g0064 a0002c0124t0006g0132 a0004c0007t0004g0105 a0004c0047t0001g0178 a0004c0080t0009g0129 a0007c0009t0038g0153 a0009c0014t0002g0048 a0009c0014t0002g0195 a0013c0027t0001g0118 a0013c0027t0001g0179 a0015c0021t0004g0044 a0015c0021t0010g0045 a0043c0091t0005g0027	20	218	0.0917	-13	c.540 others(32): Show c.540-21725_540-21713delGGAAGGAAGGAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413093	GTTTTTTG others(6): Show GTTTTTTGTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp2 HG02109.hp1 others(39): Show HG00544.hp2 HG02083.hp2 HG02109.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18948.hp1 NA18964.hp1 NA18973.hp2 NA18977.hp1 NA19000.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19079.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0016 a0020 a0023 a0029 a0032 a0034 a0036 a0038	a0001c0001 a0001c0005 a0001c0006 others(33): Show a0001c0001 a0001c0005 a0001c0006 a0001c0016 a0001c0031 a0001c0034 a0001c0037 a0001c0038 a0001c0058 a0001c0071 a0001c0072 a0001c0096 a0001c0099 a0001c0106 a0002c0002 a0002c0003 a0002c0085 a0003c0015 a0003c0077 a0003c0105 a0003c0116 a0004c0007 a0006c0029 a0006c0121 a0007c0009 a0010c0083 a0010c0128 a0016c0028 a0020c0074 a0020c0078 a0023c0113 a0029c0063 a0032c0045 a0034c0081 a0036c0052 a0038c0044	a0001c0001t0001 a0001c0001t0005 a0001c0005t0047 others(35): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0047 a0001c0006t0008 a0001c0016t0004 a0001c0031t0013 a0001c0034t0001 a0001c0037t0004 a0001c0038t0007 a0001c0058t0004 a0001c0071t0013 a0001c0072t0037 a0001c0096t0025 a0001c0099t0012 a0001c0106t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0085t0005 a0003c0015t0002 a0003c0077t0039 a0003c0105t0030 a0003c0116t0045 a0004c0007t0001 a0006c0029t0002 a0006c0121t0041 a0007c0009t0038 a0010c0083t0014 a0010c0128t0010 a0016c0028t0007 a0020c0074t0012 a0020c0078t0019 a0023c0113t0013 a0029c0063t0002 a0032c0045t0005 a0034c0081t0019 a0036c0052t0006 a0038c0044t0005	a0001c0001t0001g0025 a0001c0001t0005g0168 a0001c0005t0047g0024 others(39): Show a0001c0001t0001g0025 a0001c0001t0005g0168 a0001c0005t0047g0024 a0001c0006t0008g0148 a0001c0006t0008g0217 a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0031t0013g0123 a0001c0034t0001g0068 a0001c0037t0004g0021 a0001c0038t0007g0205 a0001c0058t0004g0083 a0001c0071t0013g0138 a0001c0072t0037g0213 a0001c0096t0025g0003 a0001c0099t0012g0029 a0001c0106t0001g0121 a0002c0002t0002g0095 a0002c0002t0002g0130 a0002c0003t0002g0053 a0002c0003t0003g0166 a0002c0003t0003g0177 a0002c0085t0005g0085 a0003c0015t0002g0167 a0003c0077t0039g0022 a0003c0105t0030g0141 a0003c0116t0045g0111 a0004c0007t0001g0049 a0006c0029t0002g0197 a0006c0121t0041g0042 a0007c0009t0038g0153 a0010c0083t0014g0159 a0010c0128t0010g0139 a0016c0028t0007g0084 a0020c0074t0012g0161 a0020c0078t0019g0151 a0023c0113t0013g0096 a0029c0063t0002g0196 a0032c0045t0005g0191 a0034c0081t0019g0152 a0036c0052t0006g0154 a0038c0044t0005g0175	42	218	0.1927	-13	c.539 others(32): Show c.539+39770_539+39782delAAAAAACAAAAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0204 a0001c0005t0008g0204	1	218	0.0046	-13	c.539 others(32): Show c.539+37120_539+37132delTTTTTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497516	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0042 a0042	a0042c0097 a0042c0097	a0042c0097t0005 a0042c0097t0005	a0042c0097t0005g0059 a0042c0097t0005g0059	1	218	0.0046	-13	c.293 others(30): Show c.293+8403_293+8415delATATATATTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497518	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0055 a0003c0055	a0003c0055t0044 a0003c0055t0044	a0003c0055t0044g0071 a0003c0055t0044g0071	1	218	0.0046	-13	c.293 others(30): Show c.293+8401_293+8413delATATATATATTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0047 a0001c0005t0047	a0001c0005t0047g0024 a0001c0005t0047g0024	1	218	0.0046	-13	c.293 others(30): Show c.293+8399_293+8411delATATATATATATT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497522	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02056.hp2 HG01978.hp2 HG02056.hp2	a0005 a0007 a0005 a0007	a0005c0022 a0007c0009 a0005c0022 a0007c0009	a0005c0022t0010 a0007c0009t0003 a0005c0022t0010 a0007c0009t0003	a0005c0022t0010g0109 a0007c0009t0003g0069 a0005c0022t0010g0109 a0007c0009t0003g0069	2	218	0.0092	-13	c.293 others(30): Show c.293+8397_293+8409delATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510208	GGGGAGGC others(6): Show GGGGAGGCCAAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0037 a0001c0072t0037	a0001c0072t0037g0213 a0001c0072t0037g0213	1	218	0.0046	-13	c.-39 others(24): Show c.-3997_-3985delACTTTGGCCTCCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3730		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137886268	CCTCCAGC others(6): Show CCTCCAGCAGTTCA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01943.hp1 others(21): Show HG00597.hp1 HG00673.hp1 HG01943.hp1 HG02040.hp2 HG02074.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp2 NA18747.hp1 NA18955.hp1 NA18960.hp2 NA18980.hp1 NA18983.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19085.hp2	a0001 a0014 a0016 a0001 a0014 a0016	a0001c0005 a0001c0009 a0001c0013 others(3): Show a0001c0005 a0001c0009 a0001c0013 a0001c0015 a0014c0031 a0016c0030	a0001c0005t0004 a0001c0009t0003 a0001c0013t0009 others(4): Show a0001c0005t0004 a0001c0009t0003 a0001c0013t0009 a0001c0015t0002 a0001c0015t0009 a0014c0031t0002 a0016c0030t0003	a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 others(21): Show a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0009t0003g0022 a0001c0009t0003g0092 a0001c0009t0003g0093 a0001c0009t0003g0094 a0001c0009t0003g0095 a0001c0009t0003g0096 a0001c0013t0009g0099 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0014c0031t0002g0113 a0016c0030t0003g0097	24	248	0.0968	-13	c.530 others(30): Show c.530+3394_530+3406delGTTCACTCCAGCA		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138090701	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	-13	c.509 others(32): Show c.5095-5762_5095-5750delAAAAAAAAAAAAA		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2255130	GACCTTGG others(6): Show GACCTTGGGCAAGT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	104	0.0096	-13	c.477 others(34): Show c.477+134701_477+134713delACCTTGGGCAAGT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46						chr12	TogoVar

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