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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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
CABLES2_chr20_62383634_62412285	62398076	G G	GTGGTGGT others(32): Show GTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGGCGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0152 a0001c0001t0021g0152	1	400	0.0025	39	c.363 others(56): Show c.363-1485_363-1484insTCGCCATCACCACCATCACCATCACTGT CACCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62406647	G G	GCCCAGGT others(32): Show GCCCAGGTCACCTGACCCCTTTGTCCTGGCCTGATGAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(159): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA19002.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0007 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0003c0006 a0003c0021 a0004c0007 a0005c0012 a0005c0014 a0007c0015 a0009c0019 a0010c0020 a0011c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0030 a0001c0002t0031 a0001c0004t0003 a0001c0004t0008 a0001c0004t0028 a0001c0005t0004 a0001c0008t0003 a0001c0008t0005 a0001c0010t0008 a0001c0011t0004 a0003c0006t0002 a0003c0006t0022 a0003c0021t0002 a0004c0007t0003 a0005c0012t0002 a0005c0014t0015 a0007c0015t0002 a0009c0019t0002 a0010c0020t0001 a0011c0018t0002	a0001c0001t0001g0212 a0001c0001t0003g0071 a0001c0001t0003g0072 others(81): Show a0001c0001t0001g0212 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0183 a0001c0001t0011g0030 a0001c0001t0018g0215 a0001c0002t0001g0188 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0050 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0209 a0001c0002t0010g0028 a0001c0002t0010g0193 a0001c0002t0010g0198 a0001c0002t0012g0048 a0001c0002t0012g0192 a0001c0002t0014g0049 a0001c0002t0030g0194 a0001c0002t0031g0197 a0001c0004t0003g0003 a0001c0004t0003g0017 a0001c0004t0003g0035 a0001c0004t0003g0064 a0001c0004t0003g0065 a0001c0004t0003g0066 a0001c0004t0003g0067 a0001c0004t0003g0068 a0001c0004t0008g0033 a0001c0004t0008g0034 a0001c0004t0028g0063 a0001c0005t0004g0012 a0001c0005t0004g0015 a0001c0005t0004g0025 a0001c0005t0004g0026 a0001c0005t0004g0029 a0001c0005t0004g0051 a0001c0005t0004g0052 a0001c0005t0004g0184 a0001c0005t0004g0206 a0001c0005t0004g0207 a0001c0005t0004g0208 a0001c0008t0003g0027 a0001c0008t0003g0185 a0001c0008t0003g0186 a0001c0008t0003g0187 a0001c0008t0003g0213 a0001c0008t0005g0031 a0001c0008t0005g0053 a0001c0008t0005g0210 a0001c0008t0005g0211 a0001c0008t0005g0216 a0001c0010t0008g0016 a0001c0011t0004g0220 a0001c0011t0004g0221 a0003c0006t0002g0005 a0003c0006t0002g0032 a0003c0006t0002g0054 a0003c0006t0002g0225 a0003c0006t0002g0228 a0003c0006t0002g0229 a0003c0006t0002g0230 a0003c0006t0022g0226 a0003c0021t0002g0232 a0004c0007t0003g0214 a0005c0012t0002g0061 a0005c0014t0015g0062 a0007c0015t0002g0069 a0009c0019t0002g0227 a0010c0020t0001g0231 a0011c0018t0002g0223	162	400	0.4050	39	c.362 others(54): Show c.362+267_362+268insGCCTCATCAGGCCAGGACAAAGGGGTCAGG TGACCTGGG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13240600	G G	GTGCGCAG others(32): Show GTGCGCAGTGACTGTGTGTGTGCAGTGTGTGTGCAGTGTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0073 a0003c0073	a0003c0073t0042 a0003c0073t0042	a0003c0073t0042g0026 a0003c0073t0042g0026	1	218	0.0046	39	c.495 others(58): Show c.4950+4581_4950+4582insGACACTGCACACACACTGCACACACA CAGTCACTGCGCA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	31/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13376551	A A	AATATATA others(32): Show AATATATAACACATAATATATGTTATATATAACATATGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0094 a0003c0094	a0003c0094t0018 a0003c0094t0018	a0003c0094t0018g0208 a0003c0094t0018g0208	1	218	0.0046	39	c.540 others(56): Show c.540-4811_540-4773dupCTCATATGTTATATATAACATATATTAT GTGTTATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137874392	C C	CCTGTAGG others(32): Show CCTGTAGGGACTTCCTCACCGACCGAGCTGTCTACACCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03486.hp2 HG01243.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0051 a0001c0003 a0001c0051	a0001c0003t0034 a0001c0051t0007 a0001c0003t0034 a0001c0051t0007	a0001c0003t0034g0109 a0001c0051t0007g0108 a0001c0003t0034g0109 a0001c0051t0007g0108	2	248	0.0081	39	c.-35 others(50): Show c.-3542_-3541insCTGTAGGGACTTCCTCACCGACCGAGCTGTCTAC ACCTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		3389		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137874673	G G	GACTTCCT others(32): Show GACTTCCTCACTGGACGAGCTGTCTACACCTGCTGTAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02451.hp1 others(21): Show HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0017 others(2): Show a0001 a0002 a0017 a0019 a0020	a0001c0003 a0001c0017 a0001c0022 others(6): Show a0001c0003 a0001c0017 a0001c0022 a0001c0048 a0001c0050 a0002c0004 a0017c0047 a0019c0045 a0020c0052	a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 others(12): Show a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0043 a0001c0017t0006 a0001c0017t0016 a0001c0022t0002 a0001c0022t0020 a0001c0048t0006 a0001c0050t0040 a0002c0004t0005 a0017c0047t0006 a0019c0045t0007 a0020c0052t0006	a0001c0003t0005g0006 a0001c0003t0005g0107 a0001c0003t0005g0130 others(21): Show a0001c0003t0005g0006 a0001c0003t0005g0107 a0001c0003t0005g0130 a0001c0003t0006g0112 a0001c0003t0006g0136 a0001c0003t0007g0106 a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0135 a0001c0003t0043g0127 a0001c0017t0006g0122 a0001c0017t0016g0119 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0048t0006g0101 a0001c0050t0040g0129 a0002c0004t0005g0133 a0017c0047t0006g0116 a0019c0045t0007g0117 a0020c0052t0006g0115	24	248	0.0968	39	c.-32 others(50): Show c.-3261_-3260insACTTCCTCACTGGACGAGCTGTCTACACCTGCTG TAGGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		3108		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137874687	C C	CCGAGCTG others(32): Show CCGAGCTGTCTACACCTGCTGTAGGGACTTCCTCACTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0099 a0001c0013t0009g0099	1	248	0.0040	39	c.-32 others(50): Show c.-3247_-3246insCGAGCTGTCTACACCTGCTGTAGGGACTTCCTCA CTGGA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		3094		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137874726	C C	CCGAGCTG others(32): Show CCGAGCTGTCTACACCTGCTGTAGGCACTTCCTCACTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0005 a0001c0044t0005	a0001c0044t0005g0239 a0001c0044t0005g0239	1	248	0.0040	39	c.-32 others(50): Show c.-3208_-3207insCGAGCTGTCTACACCTGCTGTAGGCACTTCCTCA CTGGA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		3055		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137874765	A A	ACGAGCTG others(32): Show ACGAGCTGTCTACACCTGCTGTAGGGACTTCCTCACCGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00673.hp1 others(21): Show HG00438.hp2 HG00597.hp1 HG00673.hp1 HG01943.hp1 HG02040.hp2 HG02074.hp2 HG03492.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 a0015 others(1): Show a0001 a0014 a0015 a0016	a0001c0005 a0001c0009 a0001c0015 others(3): Show a0001c0005 a0001c0009 a0001c0015 a0014c0031 a0015c0049 a0016c0030	a0001c0005t0004 a0001c0009t0003 a0001c0015t0002 others(4): Show a0001c0005t0004 a0001c0009t0003 a0001c0015t0002 a0001c0015t0009 a0014c0031t0002 a0015c0049t0002 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 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0014c0031t0002g0113 a0015c0049t0002g0100 a0016c0030t0003g0097	24	248	0.0968	39	c.-31 others(50): Show c.-3169_-3168insCGAGCTGTCTACACCTGCTGTAGGGACTTCCTCA CCGAC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		3016		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137874843	A A	ACGAGCTG others(32): Show ACGAGCTGTCTACACCTGCTGTAGGGACTTCCTCACCGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02451.hp1 others(21): Show HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0017 others(2): Show a0001 a0002 a0017 a0019 a0020	a0001c0003 a0001c0017 a0001c0022 others(6): Show a0001c0003 a0001c0017 a0001c0022 a0001c0048 a0001c0050 a0002c0004 a0017c0047 a0019c0045 a0020c0052	a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 others(12): Show a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0043 a0001c0017t0006 a0001c0017t0016 a0001c0022t0002 a0001c0022t0020 a0001c0048t0006 a0001c0050t0040 a0002c0004t0005 a0017c0047t0006 a0019c0045t0007 a0020c0052t0006	a0001c0003t0005g0006 a0001c0003t0005g0107 a0001c0003t0005g0130 others(21): Show a0001c0003t0005g0006 a0001c0003t0005g0107 a0001c0003t0005g0130 a0001c0003t0006g0112 a0001c0003t0006g0136 a0001c0003t0007g0106 a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0135 a0001c0003t0043g0127 a0001c0017t0006g0122 a0001c0017t0016g0119 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0048t0006g0101 a0001c0050t0040g0129 a0002c0004t0005g0133 a0017c0047t0006g0116 a0019c0045t0007g0117 a0020c0052t0006g0115	24	248	0.0968	39	c.-30 others(50): Show c.-3091_-3090insCGAGCTGTCTACACCTGCTGTAGGGACTTCCTCA CCGAC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2938		chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185756	G G	GGCGTAGG others(32): Show GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGCGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	338	0.0030	39	c.300 others(56): Show c.300-9215_300-9214insCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGCGAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82060201	T T	TAATATAT others(32): Show TAATATATATATATAATATATATATAATATATATATATTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	144	0.0069	39	c.879 others(54): Show c.879+226_879+227insTAATATATATATATTATATATATATTATAT ATATATATT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D4_chr12_1786963_1923652	1908651	C C	CTCACGGA others(32): Show CTCACGGACATCCCCACGCCAACTCCCAAGCCGGACTGCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG01891.hp2 others(10): Show HG01074.hp2 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02280.hp1 HG02622.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 NA19030.hp1	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0001 a0006c0035 a0014c0032 a0001c0001 a0006c0035 a0014c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0006c0035t0012 a0014c0032t0001	a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 others(10): Show a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0002g0157 a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0006g0163 a0001c0001t0010g0149 a0001c0001t0010g0161 a0001c0001t0022g0164 a0006c0035t0012g0155 a0014c0032t0001g0158	13	318	0.0409	39	c.487 others(54): Show c.487-615_487-614insCGCAGTCCGGCTTGGGAGTTGGCGTGGGGA TGTCCGTGA	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	4/37			chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1908651	C C	CTCACGGA others(32): Show CTCACGGACATCCCCACGCCAACTCCCACGCCGGACTGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG00738.hp1 others(4): Show HG00099.hp2 HG00733.hp2 HG00738.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG03834.hp2	a0002 a0002	a0002c0008 a0002c0012 a0002c0029 a0002c0008 a0002c0012 a0002c0029	a0002c0008t0002 a0002c0008t0003 a0002c0012t0001 others(1): Show a0002c0008t0002 a0002c0008t0003 a0002c0012t0001 a0002c0029t0001	a0002c0008t0002g0313 a0002c0008t0003g0021 a0002c0012t0001g0018 others(4): Show a0002c0008t0002g0313 a0002c0008t0003g0021 a0002c0012t0001g0018 a0002c0012t0001g0019 a0002c0012t0001g0022 a0002c0012t0001g0023 a0002c0029t0001g0020	7	318	0.0220	39	c.487 others(54): Show c.487-653_487-615dupCGCAGTCCGGCGTGGGAGTTGGCGTGGGGA TGTCCGTGA	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	4/37			chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1908726	T T	TGCGTCAC others(32): Show TGCGTCACGGACATCCCCACGCCAACTCCCACGCCGGACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01069.hp1 others(65): Show HG00140.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02735.hp2 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03239.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18985.hp2 NA18989.hp2 NA19002.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0007 a0008 a0012 a0017 a0019	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0019 a0001c0025 a0001c0045 a0001c0054 a0001c0055 a0001c0057 a0003c0013 a0004c0021 a0004c0023 a0007c0041 a0008c0016 a0012c0026 a0017c0030 a0019c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0009 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0001c0009t0007 a0001c0009t0009 a0001c0011t0002 a0001c0011t0005 a0001c0011t0011 a0001c0014t0002 a0001c0014t0003 a0001c0015t0002 a0001c0019t0002 a0001c0025t0003 a0001c0045t0001 a0001c0054t0002 a0001c0055t0005 a0001c0057t0001 a0003c0013t0007 a0003c0013t0009 a0004c0021t0001 a0004c0023t0001 a0007c0041t0005 a0008c0016t0002 a0008c0016t0003 a0012c0026t0021 a0017c0030t0001 a0019c0024t0002	a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0096 others(65): Show a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0266 a0001c0001t0002g0032 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0265 a0001c0001t0003g0073 a0001c0001t0003g0085 a0001c0001t0003g0115 a0001c0001t0003g0145 a0001c0001t0010g0152 a0001c0002t0009g0009 a0001c0003t0001g0125 a0001c0004t0001g0086 a0001c0004t0001g0178 a0001c0004t0001g0262 a0001c0004t0001g0263 a0001c0009t0001g0053 a0001c0009t0001g0147 a0001c0009t0007g0002 a0001c0009t0007g0005 a0001c0009t0009g0006 a0001c0011t0002g0293 a0001c0011t0002g0299 a0001c0011t0005g0297 a0001c0011t0011g0292 a0001c0014t0002g0305 a0001c0014t0003g0304 a0001c0015t0002g0233 a0001c0019t0002g0298 a0001c0025t0003g0054 a0001c0045t0001g0143 a0001c0054t0002g0308 a0001c0055t0005g0300 a0001c0057t0001g0296 a0003c0013t0007g0007 a0003c0013t0009g0003 a0004c0021t0001g0013 a0004c0023t0001g0014 a0007c0041t0005g0168 a0008c0016t0002g0117 a0008c0016t0003g0118 a0012c0026t0021g0188 a0017c0030t0001g0226 a0019c0024t0002g0126	68	318	0.2138	39	c.487 others(54): Show c.487-690_487-689insTGTCCGGCGTGGGAGTTGGCGTGGGGATGT CCGTGACGC	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	4/37			chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1908762	G G	GACAGCGT others(32): Show GACAGCGTCACGGACATCCCCACGCCAACTCCCACGCCGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp2 HG03486.hp1 NA18906.hp2	a0006 a0018 a0006 a0018	a0006c0051 a0018c0050 a0006c0051 a0018c0050	a0006c0051t0001 a0018c0050t0017 a0006c0051t0001 a0018c0050t0017	a0006c0051t0001g0281 a0018c0050t0017g0010 a0006c0051t0001g0281 a0018c0050t0017g0010	2	318	0.0063	39	c.487 others(54): Show c.487-726_487-725insGCGGCGTGGGAGTTGGCGTGGGGATGTCCG TGACGCTGT	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	4/37			chr12	TogoVar
CACNB2_chr10_18135424_18548557	18535660	C C	CTACTTGG others(32): Show CTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0191 a0001c0001t0023g0192 a0001c0001t0023g0191 a0001c0001t0023g0192	2	200	0.0100	39	c.120 others(56): Show c.1207-440_1207-402dupTACTTGGGAGGCTGAGGCAGGAGAATGG TGTGAACCTGG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18535660	C C	CTACTTGG others(32): Show CTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0036 a0001c0001t0022g0038 a0001c0001t0022g0036 a0001c0001t0022g0038	2	302	0.0066	39	c.104 others(56): Show c.1045-440_1045-402dupTACTTGGGAGGCTGAGGCAGGAGAATGG TGTGAACCTGG	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703761	C C	CTCGCTCT others(32): Show CTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0147 a0001c0001t0080g0147	1	214	0.0047	39	c.-11 others(50): Show c.-1186_-1185insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGCGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		10		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703763	C C	CGCTCTCT others(32): Show CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0158 a0001c0001t0079g0158	1	214	0.0047	39	c.-11 others(50): Show c.-1188_-1187insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGC	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		12		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703777	C C	CTCTCTCT others(32): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0180 a0001c0001t0013g0180	1	214	0.0047	39	c.-12 others(50): Show c.-1202_-1201insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		26		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(32): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02809.hp2 HG02818.hp2 others(2): Show HG02083.hp1 HG02809.hp2 HG02818.hp2 HG04199.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0052 others(1): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0052 a0001c0001t0061	a0001c0001t0005g0110 a0001c0001t0005g0124 a0001c0001t0014g0084 others(2): Show a0001c0001t0005g0110 a0001c0001t0005g0124 a0001c0001t0014g0084 a0001c0001t0052g0097 a0001c0001t0061g0115	5	214	0.0234	39	c.-36 others(50): Show c.-3651_-3650insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG6_chr19_53986637_54017666	53991045	G G	GCCCCCAG others(32): Show GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	430	0.0023	39	c.-18 others(50): Show c.-1833_-1832insCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTC AGGCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		591		chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	430	0.0023	39	c.545 others(54): Show c.545-745_545-744insAAAAAAAAAAAAAAATATATATATATATAT ATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906078	C C	CCTTCTTC others(32): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	364	0.0028	39	c.-34 others(50): Show c.-3469_-3468insCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3199		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906081	C C	CCTTCTTC others(32): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	364	0.0028	39	c.-34 others(50): Show c.-3466_-3465insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3196		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(32): Show CCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	364	0.0028	39	c.-34 others(50): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTC TTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(32): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	364	0.0028	39	c.-34 others(50): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTC TTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991045	G G	GCCCCCAG others(32): Show GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	394	0.0025	39	c.81 others(50): Show c.8196_*8197insCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTC AGGCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		831		chr19	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(32): Show ACTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp2 NA18993.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0120 a0001c0001t0004g0094 a0001c0001t0001g0120 a0001c0001t0004g0094	2	164	0.0122	39	c.125 others(58): Show c.125-43668_125-43667insAGAGAGAGAGAGAGAGGAGAGAGAGA GAGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115490392	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0158 a0001c0001t0053g0158	1	164	0.0061	39	c.124 others(58): Show c.124+13878_124+13879insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85216322	T T	TATATATT others(32): Show TATATATTTAATGTATAAATATATTATTATATTAATAGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0096 a0001c0002t0048g0096	1	146	0.0069	39	c.61+ others(58): Show c.61+256666_61+256704dupGTATAAATATATTATTATATTAATAG TAATATATTTAAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85336939	A A	AAATATAT others(32): Show AAATATATATATATTTAATATATATATTAAATATATATTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0100 a0001c0001t0008g0101 a0001c0001t0002g0100 a0001c0001t0008g0101	2	146	0.0137	39	c.61+ others(58): Show c.61+377296_61+377334dupATTAAATATATATTTAATATATATAT ATTTAATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	146	0.0069	39	c.62- others(58): Show c.62-366855_62-366854insATATATATATATATATATATATATAT ATATATATTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315296	T T	TCTCTCTC others(32): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	126	0.0079	39	c.48 others(50): Show c.4868_*4869insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3114		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645514	T T	TTAAATAT others(32): Show TTAAATATATATATTTACATATATTTAATATATATATACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG03130.hp1 others(2): Show HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0002g0006	5	126	0.0397	39	c.787 others(58): Show c.787-16187_787-16186insTGTATATATATATTAAATATATGTAA ATATATATATTTA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	328	0.0031	39	c.912 others(56): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18972.hp2 NA18942.hp1 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0026 a0002c0002t0001 a0002c0002t0026	a0002c0002t0001g0176 a0002c0002t0026g0183 a0002c0002t0001g0176 a0002c0002t0026g0183	2	328	0.0061	39	c.912 others(56): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	328	0.0031	39	c.912 others(56): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCRL_chr2_187336964_187453252	187444952	T T	TCACCTCC others(32): Show TCACCTCCTCCCCCCCTCCGCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	344	0.0029	39	c.-29 others(58): Show c.-293+3086_-293+3087insGGGGGGGGGGGGGGGGGGGGCGGAGG GGGGGAGGAGGTG	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding	1/14			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	432	0.0023	39	c.34+ others(54): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALN1_chr7_71774491_72417338	71847719	G G	GAAGAAAG others(32): Show GAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02735.hp1 NA18747.hp1 others(3): Show HG02015.hp2 HG02735.hp1 NA18747.hp1 NA18942.hp1 NA18962.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0028 a0001c0001t0051	a0001c0001t0001g0101 a0001c0001t0002g0082 a0001c0001t0002g0085 others(3): Show a0001c0001t0001g0101 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0026g0009 a0001c0001t0028g0013 a0001c0001t0051g0132	6	142	0.0423	39	c.502 others(58): Show c.502-37228_502-37227insTCTTCTTTCTTCTTTCTTCTTTCTTC TTTCTTCTTTCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	142	0.0070	39	c.501 others(56): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(32): Show AAATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	142	0.0070	39	c.244 others(58): Show c.244+73134_244+73135insATATATATATATATATATATATATAT ATATGTATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387445	T T	TTATATAT others(32): Show TTATATATTTTATATATTATATATATTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02523.hp2 HG02622.hp2 others(2): Show HG02486.hp2 HG02523.hp2 HG02622.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0083 a0001c0001t0092 others(2): Show a0001c0001t0002 a0001c0001t0083 a0001c0001t0092 a0001c0002t0011 a0001c0002t0026	a0001c0001t0002g0088 a0001c0001t0083g0061 a0001c0001t0092g0163 others(2): Show a0001c0001t0002g0088 a0001c0001t0083g0061 a0001c0001t0092g0163 a0001c0002t0011g0164 a0001c0002t0026g0166	5	214	0.0234	39	c.92+ others(56): Show c.92+37542_92+37543insTTTATATATTATATATATTTTATATATA TATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694197	T T	TTATATAT others(32): Show TTATATATTATATAAAATATATATTATGTATAATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp2 HG02257.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0113 a0001c0001t0092 a0001c0001t0113	a0001c0001t0092g0163 a0001c0001t0113g0034 a0001c0001t0092g0163 a0001c0001t0113g0034	2	214	0.0094	39	c.299 others(58): Show c.299+27397_299+27398insATAAAATATATATTATGTATAATATA TAATATATATTAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2A_chr5_150214491_150294773	150216823	A A	AACCCAGG others(32): Show AACCCAGGCCTGGGGAAGGCCGTTTCCACTGCCGGGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01099.hp2 others(45): Show HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01884.hp1 HG01934.hp2 HG01981.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0001t0014 a0001c0001t0024 others(20): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0050 a0001c0001t0061 a0001c0001t0068 a0001c0001t0080 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0002t0011 a0001c0002t0071 a0001c0005t0014	a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0056 others(44): Show a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0056 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0244 a0001c0001t0004g0287 a0001c0001t0004g0292 a0001c0001t0014g0016 a0001c0001t0014g0034 a0001c0001t0014g0298 a0001c0001t0014g0301 a0001c0001t0024g0026 a0001c0001t0024g0027 a0001c0001t0024g0312 a0001c0001t0026g0005 a0001c0001t0030g0144 a0001c0001t0030g0282 a0001c0001t0031g0018 a0001c0001t0031g0302 a0001c0001t0032g0040 a0001c0001t0032g0307 a0001c0001t0033g0019 a0001c0001t0033g0020 a0001c0001t0035g0303 a0001c0001t0037g0036 a0001c0001t0037g0306 a0001c0001t0038g0076 a0001c0001t0038g0152 a0001c0001t0050g0021 a0001c0001t0061g0281 a0001c0001t0068g0250 a0001c0001t0080g0035 a0001c0001t0083g0156 a0001c0001t0085g0029 a0001c0001t0086g0239 a0001c0001t0088g0295 a0001c0001t0089g0249 a0001c0002t0011g0041 a0001c0002t0011g0183 a0001c0002t0011g0207 a0001c0002t0011g0318 a0001c0002t0011g0320 a0001c0002t0071g0204 a0001c0005t0014g0127	48	338	0.1420	39	c.58 others(50): Show c.5886_*5887insAGGCCCCGGCAGTGGAAACGGCCTTCCCCAGGCC TGGGT	CAMK2A	ENSG00000070808.17	transcript	ENST00000671881.1	protein_coding		2667		chr5	TogoVar
CAMK2A_chr5_150214491_150294773	150216826	C C	CCAGGCCT others(32): Show CCAGGCCTGGGGAAGGCCGTTTCCACTGCCGGGGCCTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 NA19030.hp1 NA21309.hp2 HG02572.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0049 a0001c0001t0034 a0001c0001t0049	a0001c0001t0034g0047 a0001c0001t0034g0270 a0001c0001t0049g0173 a0001c0001t0034g0047 a0001c0001t0034g0270 a0001c0001t0049g0173	3	338	0.0089	39	c.58 others(50): Show c.5883_*5884insAGTAGGCCCCGGCAGTGGAAACGGCCTTCCCCAG GCCTG	CAMK2A	ENSG00000070808.17	transcript	ENST00000671881.1	protein_coding		2664		chr5	TogoVar
CAMK2B_chr7_44212154_44330594	44227178	G G	GGGTGCAG others(32): Show GGGTGCAGGGGACAGAGGAGGGATGTGGGGGACAGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0098 a0001c0004t0003g0098	1	242	0.0041	39	c.146 others(56): Show c.1469-535_1469-534insTCTCTCTGTCCCCCACATCCCTCCTCTG TCCCCTGCACC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMKK1_chr17_3855315_3898053	3867970	A A	ATCTGGGG others(32): Show ATCTGGGGGAGACGCAGGCCCGTCTAACTGATACGCGGGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0171 a0001c0002t0007g0171	1	446	0.0022	39	c.134 others(58): Show c.1341+1516_1341+1517insGCCCGCGTATCAGTTAGACGGGCCTG CGTCTCCCCCAGA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar

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