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 genename

Sampleids

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BPIFC_chr22_32408845_32469446	32424574	T T	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03453.hp2 others(1): Show HG02109.hp2 HG02965.hp2 HG03453.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0003c0003t0002 a0001c0001t0003 a0003c0003t0001 a0003c0003t0002	a0001c0001t0003g0297 a0003c0003t0001g0033 a0003c0003t0002g0006 others(1): Show a0001c0001t0003g0297 a0003c0003t0001g0033 a0003c0003t0002g0006 a0003c0003t0002g0303	4	422	0.0095	51	c.121 others(70): Show c.1218-5171_1218-5170insGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCC TC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	422	0.0024	51	c.121 others(70): Show c.1218-5197_1218-5196insGAGGAGGAGGAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCC TC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03516.hp2 HG02129.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0238 a0003c0003t0002g0203 a0001c0001t0002g0238 a0003c0003t0002g0203	2	422	0.0047	51	c.121 others(70): Show c.1218-5197_1218-5196insGAGGAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02056.hp1 HG00099.hp2 HG02056.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0350 a0004c0004t0002g0026 a0001c0001t0002g0350 a0004c0004t0002g0026	2	422	0.0047	51	c.121 others(70): Show c.1218-5197_1218-5196insGAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424660	T T	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCCTCTTCTTCTTCCTCCTCTTCTTCCTCCTCTTCTT CC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0415 a0001c0001t0001g0415	1	422	0.0024	51	c.121 others(70): Show c.1218-5257_1218-5256insGGAAGAAGAGGAGGAAGAAGAGGAGG AAGAAGAAGAGGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424663	T T	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCCTCTTCTTCTTCCTCCTCTTCTTCCTCCTCTTCTT CC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	422	0.0024	51	c.121 others(70): Show c.1218-5260_1218-5259insGGAAGAAGAGGAGGAAGAAGAGGAGG AAGAAGAAGAGGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38305752	G G	GGGGGTAG others(44): Show GGGGGTAGTGACAGGACCTACTTCCTAGGATTGTACAAATTCATACATAT AC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0234 a0006c0005t0001g0234	1	426	0.0024	51	c.130 others(68): Show c.130+1402_130+1452dupGGTAGTGACAGGACCTACTTCCTAGGAT TGTACAAATTCATACATATACGG	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BRSK1_chr19_55278997_55317562	55308312	C C	CCTGTACC others(44): Show CCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC CT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01255.hp1 others(43): Show HG00741.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0001t0029 a0001c0004t0005 a0001c0005t0001 a0001c0009t0003 a0001c0018t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0051 others(39): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0266 a0001c0001t0002g0005 a0001c0001t0002g0161 a0001c0001t0002g0240 a0001c0001t0002g0267 a0001c0001t0002g0285 a0001c0001t0004g0033 a0001c0001t0004g0088 a0001c0001t0004g0146 a0001c0001t0009g0089 a0001c0001t0016g0160 a0001c0001t0029g0262 a0001c0004t0005g0034 a0001c0004t0005g0035 a0001c0004t0005g0038 a0001c0004t0005g0039 a0001c0004t0005g0103 a0001c0004t0005g0186 a0001c0004t0005g0223 a0001c0004t0005g0263 a0001c0005t0001g0177 a0001c0005t0001g0288 a0001c0009t0003g0100 a0001c0018t0001g0279 a0002c0003t0002g0006 a0002c0003t0002g0019 a0002c0003t0002g0091 a0002c0003t0002g0145 a0002c0003t0002g0149 a0002c0003t0002g0150 a0002c0003t0002g0159 a0002c0003t0002g0256 a0002c0003t0003g0255 a0002c0003t0010g0019	46	338	0.1361	51	c.209 others(68): Show c.2090-325_2090-275dupTGTACCTGGCTCCAACTTATTTTTCTTA CATTTCTGGTCCTTCATGGCCTC	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1430163	C C	CGGGGTCT others(44): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01081.hp2 others(14): Show HG00323.hp2 HG00741.hp1 HG01081.hp2 HG01167.hp1 HG01943.hp2 HG02145.hp1 HG02602.hp1 HG02630.hp2 HG03098.hp2 HG03654.hp1 HG03688.hp2 NA18522.hp2 NA18980.hp2 NA19012.hp1 NA19067.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0014 a0001c0001 a0002c0002 a0003c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0036 a0001c0001t0060 a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 a0003c0014t0002	a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0053 others(13): Show a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0317 a0001c0001t0003g0288 a0001c0001t0011g0303 a0001c0001t0013g0311 a0001c0001t0021g0206 a0001c0001t0021g0221 a0001c0001t0021g0242 a0001c0001t0036g0300 a0001c0001t0060g0163 a0002c0002t0002g0176 a0002c0002t0005g0250 a0002c0002t0013g0001 a0003c0014t0002g0319	17	360	0.0472	51	c.92- others(66): Show c.92-5875_92-5874insGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430210	C C	CGGGGTCT others(44): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGT GG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	360	0.0056	51	c.92- others(66): Show c.92-5828_92-5827insGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGTGGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430586	C C	CGGGGTCT others(44): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	360	0.0028	51	c.92- others(66): Show c.92-5452_92-5451insGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTLA_chr3_112458966_112504472	112469608	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0179 a0002c0002t0008g0179	1	344	0.0029	51	c.594 others(66): Show c.594+149_594+150insTATATATATATATATATATATATATATATA TATATATATATATATATATAT	BTLA	ENSG00000186265.10	transcript	ENST00000334529.10	protein_coding	4/4			chr3	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	360	0.0028	51	c.686 others(68): Show c.686+3205_686+3206insCTTCTTCTTCTTCTTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT TC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01106.hp1 others(38): Show HG00099.hp2 HG00642.hp1 HG01106.hp1 HG01257.hp2 HG02080.hp1 HG02129.hp1 HG02280.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG04228.hp1 NA18940.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18964.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19065.hp1 NA19070.hp1 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0007c0012	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0004c0004t0005 a0007c0012t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(35): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0339 a0002c0002t0001g0104 a0002c0002t0001g0116 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0140 a0004c0004t0001g0130 a0004c0004t0005g0135 a0007c0012t0001g0171	41	360	0.1139	51	c.686 others(68): Show c.686+3205_686+3206insCTTCTTCTTCTTCTTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTTTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(44): Show TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT TC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03017.hp1 NA18962.hp2 others(3): Show HG00738.hp2 HG03017.hp1 NA18962.hp2 NA18979.hp2 NA18991.hp1 NA18997.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0144 a0001c0001t0001g0174 a0002c0002t0001g0105	6	360	0.0167	51	c.686 others(68): Show c.686+3205_686+3206insCTTCTTCTTCTTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTTTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(44): Show TTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT TC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	360	0.0028	51	c.686 others(68): Show c.686+3205_686+3206insCTTCTTCTTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTTTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(44): Show TTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT TC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0035 a0005c0003t0001g0035	1	360	0.0028	51	c.686 others(68): Show c.686+3205_686+3206insCTTCTTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTTTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(44): Show TTCTTCTTTTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTTT TC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0335 a0003c0005t0001g0335	1	360	0.0028	51	c.686 others(68): Show c.686+3205_686+3206insCTTCTTTTTCTTCTTCTTCTTCTTTCTT CTTCTTCTTCTTCTTCTTTTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTTTTCTT others(44): Show TTTTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT TC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG02622.hp1 others(3): Show HG00741.hp2 HG01069.hp1 HG02622.hp1 HG02717.hp2 HG02976.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0089 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0163 a0001c0001t0001g0206 a0002c0002t0001g0094	6	360	0.0167	51	c.686 others(68): Show c.686+3206_686+3207insTTCTTCTTCTTCTTCTTTCTTCTTCTTC TTCTTCTTCTTCTTCTTTTTCTT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C14orf39_chr14_60430956_60491063	60433719	A A	AATAATGT others(44): Show AATAATGTTATATCATTATAGCTATATAATAATGTTATATCATTATAGCT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0184 a0004c0003t0002g0184	1	294	0.0034	51	c.30 others(62): Show c.3075_*3125dupATAGCTATAATGATATAACATTATTATATAGCTA TAATGATATAACATTAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		2236		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60433746	A A	AATAATGT others(44): Show AATAATGTTATATCATTATAGCTATATAATAATGTTATATCATTATAGCT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	294	0.0034	51	c.30 others(62): Show c.3048_*3098dupATAGCTATAATGATATAACATTATTATATAGCTA TAATGATATAACATTAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		2209		chr14	TogoVar
C1orf21_chr1_184382029_184634019	184410624	T T	TATATATT others(44): Show TATATATTATATATATATTATATATATATAATATATATATAATATATATA TA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0186 a0001c0001t0011g0186	1	232	0.0043	51	c.-12 others(72): Show c.-125+23262_-125+23263insTATATATATATTATATATATATAA TATATATATAATATATATATAATATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410624	T T	TATATTAT others(44): Show TATATTATATATATATTATATATATATAATATATATATATAATATATATA TA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0207 a0001c0001t0008g0207	1	232	0.0043	51	c.-12 others(72): Show c.-125+23260_-125+23261insTATATATATATTATATATATATAA TATATATATATAATATATATATAATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410626	T T	TATATTAT others(44): Show TATATTATATATATATTATATATATATAATATATATATATAATATATATA TA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02083.hp2 HG02135.hp2 others(11): Show HG00621.hp1 HG02083.hp2 HG02135.hp2 HG06807.hp2 NA18940.hp2 NA18962.hp2 NA18967.hp2 NA18972.hp2 NA18978.hp2 NA18997.hp1 NA19009.hp2 NA19011.hp2 NA19070.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0021	a0001c0001t0002g0055 a0001c0001t0002g0181 a0001c0001t0002g0184 others(11): Show a0001c0001t0002g0055 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0174 a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0215 a0001c0001t0005g0214 a0001c0001t0010g0197 a0001c0001t0021g0217	14	232	0.0603	51	c.-12 others(72): Show c.-125+23262_-125+23263insTATATATATATTATATATATATAA TATATATATATAATATATATATAATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf50_chr1_42762249_42784491	42779126	C C	CCCTCCTC others(44): Show CCCTCCTCATGGCCAGGACTGCTTGGGTGAGAAGTGGGCTTAAGATGGTT GT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0003 a0001c0001t0077g0003	1	418	0.0024	51	c.37 others(62): Show c.3733_*3734insCTCCTCATGGCCAGGACTGCTTGGGTGAGAAGTG GGCTTAAGATGGTTGTC	C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding	5/5	3734	INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf87_chr1_59985394_60078770	60065005	A A	AATATATA others(44): Show AATATATATATTTAATATATAAAATATATATTAAATATATTATTATTTAT AT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01358.hp2 HG01361.hp2 others(13): Show HG00738.hp1 HG01358.hp2 HG01361.hp2 HG01943.hp2 HG02004.hp2 HG02572.hp2 HG02602.hp2 HG02717.hp1 HG03225.hp1 NA18948.hp2 NA18961.hp2 NA18986.hp1 NA18994.hp1 NA19004.hp1 NA19084.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(13): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0004t0001g0069 a0001c0004t0001g0073 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0086 a0002c0002t0001g0074	16	382	0.0419	51	c.107 others(68): Show c.107+7531_107+7532insATATAAATAATAATATATTTAATATATA TTTTATATATTAAATATATATAT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C20orf96_chr20_265863_295750	277983	T T	TTCTGGCT others(44): Show TTCTGGCTCCTAGCTATATAACCTTCCACAAGCTACTGCACCTCTCTTAG CC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0104 a0001c0005t0001g0104	1	410	0.0024	51	c.565 others(66): Show c.565+296_565+346dupGGCTAAGAGAGGTGCAGTAGCTTGTGGAAG GTTATATAGCTAGGAGCCAGA	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	6/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145596	T T	TAAATATA others(44): Show TAAATATAATTATTATATTATATATGATATATAATTTATTATATATATAA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	398	0.0025	51	c.39 others(62): Show c.3943_*3944insTATTATATATATAATAAATTATATATCATATATA ATATAATAATTATATTT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3409		chr22	TogoVar
C2CD3_chr11_74007718_74176002	74066264	A A	AGGAGGGG others(44): Show AGGAGGGGGAACATCACACACTGGGGCCTGTCGTGGGGTGGGGGGGAGGG GG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	318	0.0031	51	c.495 others(70): Show c.4951+7988_4951+7989insCCCCCTCCCCCCCACCCCACGACAGG CCCCAGTGTGTGATGTTCCCCCTCC	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	24/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74066267	A A	AGGGGGAA others(44): Show AGGGGGAACATCACACACTGGGGGCCTGTCGTGGGGTGGGGGGAGGGGGG AG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	318	0.0031	51	c.495 others(70): Show c.4951+7985_4951+7986insCTCCCCCCTCCCCCCACCCCACGACA GGCCCCCAGTGTGTGATGTTCCCCC	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	24/32			chr11	TogoVar
C3_chr19_6672704_6725650	6689374	T T	TCTGTCTC others(44): Show TCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp1 HG01109.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0002 a0001c0001t0001 a0001c0007t0002	a0001c0001t0001g0303 a0001c0007t0002g0226 a0001c0001t0001g0303 a0001c0007t0002g0226	2	370	0.0054	51	c.348 others(70): Show c.3489+1254_3489+1255insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGACAG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	27/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(44): Show GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0310 a0001c0018t0001g0310	1	370	0.0027	51	c.244 others(70): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3_chr19_6672704_6725650	6718868	C C	CCTCAGAA others(44): Show CCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGA GT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02572.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(1): Show a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0010t0001g0227	4	370	0.0108	51	c.267 others(66): Show c.267+292_267+342dupACTCCTCCCCTTCTGAGTCCCTCCCTTCCC TGAGACCCCACCCCTTCTGAG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	2/40			chr19	TogoVar
C3_chr19_6672704_6725650	6718868	C C	CCTCAGAA others(44): Show CCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTTAGAAGGGGAGGA GT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01891.hp1 others(18): Show HG00558.hp1 HG00558.hp2 HG01891.hp1 HG02040.hp2 HG02056.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 NA18612.hp2 NA18955.hp1 NA19076.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 others(5): Show a0001c0001 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0023 a0001c0024 a0001c0030	a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0001c0012t0001 a0001c0013t0001 a0001c0023t0001 a0001c0024t0001 a0001c0030t0001	a0001c0001t0001g0336 a0001c0001t0001g0350 a0001c0006t0001g0353 others(17): Show a0001c0001t0001g0336 a0001c0001t0001g0350 a0001c0006t0001g0353 a0001c0008t0001g0351 a0001c0008t0001g0352 a0001c0008t0001g0359 a0001c0008t0001g0360 a0001c0012t0001g0220 a0001c0012t0001g0312 a0001c0013t0001g0004 a0001c0013t0001g0219 a0001c0013t0001g0221 a0001c0013t0001g0222 a0001c0013t0001g0224 a0001c0023t0001g0354 a0001c0024t0001g0346 a0001c0024t0001g0347 a0001c0024t0001g0348 a0001c0030t0001g0223 a0001c0030t0001g0225	21	370	0.0568	51	c.267 others(66): Show c.267+342_267+343insACTCCTCCCCTTCTAAGTCCCTCCCTTCCC TGAGACCCCACCCCTTCTGAG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	2/40			chr19	TogoVar
C8orf34_chr8_68325955_68824023	68794503	A A	AAATATAT others(44): Show AAATATATATATATATATATATATATATATATATATATATATATATTTTT TT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0007 a0004c0018t0007	a0004c0018t0007g0126 a0004c0018t0007g0126	1	128	0.0078	51	c.154 others(70): Show c.1549+6967_1549+6968insAATATATATATATATATATATATATA TATATATATATATATATATTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13			chr8	TogoVar
C9_chr5_39279140_39369495	39333606	C C	CCGTCTCC others(44): Show CCGTCTCCCTCTCCGTCTCCCTCTCCCCTTTCCATGGTCTCCCCCTCTCC CT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	394	0.0025	51	c.477 others(68): Show c.477-1793_477-1792insAGGGAGAGGGGGAGACCATGGAAAGGGG AGAGGGAGACGGAGAGGGAGACG	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
CA10_chr17_51625320_52163714	51831667	A A	AAGCAGCA others(44): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATCAGCA CC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG03453.hp2 others(1): Show HG02647.hp2 HG02896.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0097 a0001c0001t0003g0098 a0001c0001t0008g0096 others(1): Show a0001c0001t0001g0097 a0001c0001t0003g0098 a0001c0001t0008g0096 a0001c0002t0001g0050	4	156	0.0256	51	c.280 others(70): Show c.280-83850_280-83849insGGTGCTGATGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(44): Show GATATATATATATATATATATGCTAGATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	324	0.0031	51	c.565 others(68): Show c.565-1863_565-1862insATATATATATATATATATATATATATCT AGCATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441226	T T	TATATATA others(44): Show TATATATATTATATATATATATATATATATAATATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	324	0.0031	51	c.-24 others(70): Show c.-246+2759_-246+2760insTATATATATATATATATATATTATAT ATATATATATATATATAATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441226	T T	TATATATA others(44): Show TATATATATTATATATATATATATATATATATAATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20905.hp2 HG01192.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0258 a0001c0002t0002g0257 a0001c0001t0002g0258 a0001c0002t0002g0257	2	324	0.0062	51	c.-24 others(70): Show c.-246+2759_-246+2760insTATATATATATATATATATTATATAT ATATATATATATATATAATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(44): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGC GG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG03654.hp1 others(13): Show HG01168.hp2 HG01169.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18942.hp1 NA18945.hp1 NA18952.hp1 NA18972.hp1 NA19009.hp2 NA19058.hp1 NA19075.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0001t0009 a0001c0001t0032 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0032 a0001c0001t0035 a0001c0016t0002	a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0001t0002g0056 others(5): Show a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0009g0006 a0001c0001t0032g0006 a0001c0001t0035g0006 a0001c0016t0002g0006	16	420	0.0381	51	c.121 others(66): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG GGGGGGCGGCGGGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2520096	C C	CCCAATGG others(44): Show CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATT GA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02145.hp1 HG02572.hp2 others(3): Show HG01071.hp1 HG02145.hp1 HG02572.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0001c0031 others(2): Show a0001c0001 a0001c0018 a0001c0031 a0002c0013 a0002c0040	a0001c0001t0005 a0001c0001t0013 a0001c0018t0042 others(3): Show a0001c0001t0005 a0001c0001t0013 a0001c0018t0042 a0001c0031t0002 a0002c0013t0016 a0002c0040t0016	a0001c0001t0005g0015 a0001c0001t0013g0014 a0001c0018t0042g0083 others(3): Show a0001c0001t0005g0015 a0001c0001t0013g0014 a0001c0018t0042g0083 a0001c0031t0002g0021 a0002c0013t0016g0022 a0002c0040t0016g0073	6	104	0.0577	51	c.139 others(70): Show c.1390+7145_1390+7195dupGTGACAGTCTTCTCATTGACCAATGG CCGTGTGCTTCAGAGGAGGGAAGCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520351	C C	CCCAATGG others(44): Show CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0067 a0001c0024t0003g0067	1	104	0.0096	51	c.139 others(70): Show c.1390+7417_1390+7418insACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1190874	C C	CTCTCTTA others(44): Show CTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTCGG GG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0004 a0003c0015t0004	a0003c0015t0004g0060 a0003c0015t0004g0060	1	338	0.0030	51	c.300 others(68): Show c.300-4093_300-4092insTACTCAGCAGGCTGGCCTGGCTGTGTGG CCTCCGGCACACTCGGGGTCTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191086	C C	CGGTGACC others(44): Show CGGTGACCCAGCATGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCGGGG TT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0023 a0002c0058t0023	a0002c0058t0023g0027 a0002c0058t0023g0027	1	338	0.0030	51	c.300 others(68): Show c.300-3886_300-3885insGGTGACCCAGCATGCTGGCCTGGTTGTG TGGCCTCAGGCACACTCGGGGTT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191303	T T	TCAGCAGG others(44): Show TCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTCGGGGTCTCTGA CC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19007.hp1 HG03540.hp1 NA19007.hp1	a0002 a0004 a0002 a0004	a0002c0063 a0004c0019 a0002c0063 a0004c0019	a0002c0063t0001 a0004c0019t0001 a0002c0063t0001 a0004c0019t0001	a0002c0063t0001g0287 a0004c0019t0001g0148 a0002c0063t0001g0287 a0004c0019t0001g0148	2	338	0.0059	51	c.300 others(68): Show c.300-3640_300-3590dupCGGCACACTCGGGGTCTCTGACCCAGCA GGCTGGCCTGGCTGTGTGGCCTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191706	C C	CGGGGTCT others(44): Show CGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00642.hp2 others(21): Show HG00099.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG01071.hp1 HG01123.hp2 HG01256.hp1 HG01361.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp2 HG04204.hp2 NA18970.hp1 NA20300.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0020 a0052 a0053	a0001c0001 a0002c0008 a0002c0013 others(6): Show a0001c0001 a0002c0008 a0002c0013 a0005c0003 a0005c0050 a0007c0005 a0020c0021 a0052c0051 a0053c0053	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0002c0008t0001 a0002c0013t0001 a0005c0003t0001 a0005c0003t0005 a0005c0003t0009 a0005c0050t0001 a0007c0005t0003 a0007c0005t0008 a0020c0021t0004 a0052c0051t0001 a0053c0053t0001	a0001c0001t0001g0140 a0001c0001t0001g0182 a0001c0001t0001g0211 others(21): Show a0001c0001t0001g0140 a0001c0001t0001g0182 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0009g0213 a0001c0001t0009g0216 a0001c0001t0010g0135 a0002c0008t0001g0185 a0002c0013t0001g0170 a0005c0003t0001g0021 a0005c0003t0001g0154 a0005c0003t0001g0178 a0005c0003t0001g0179 a0005c0003t0001g0186 a0005c0003t0001g0192 a0005c0003t0005g0255 a0005c0003t0009g0180 a0005c0050t0001g0125 a0007c0005t0003g0166 a0007c0005t0003g0181 a0007c0005t0008g0272 a0020c0021t0004g0147 a0052c0051t0001g0312 a0053c0053t0001g0004	24	338	0.0710	51	c.300 others(68): Show c.300-3250_300-3249insCAGGCTGGCCTGGCTGTGTGGCCTCAGG CACACTTGGGGTCTCTGACCCAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82140954	T T	TAAAAAAA others(44): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	144	0.0069	51	c.355 others(68): Show c.355-4279_355-4278insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	118	0.0085	51	c.138 others(70): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB1_chr17_39168453_39202669	39183337	A A	AAAGAAGA others(44): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18939.hp2 HG02132.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0187 a0001c0002t0006g0216 a0001c0002t0006g0187 a0001c0002t0006g0216	2	396	0.0051	51	c.105 others(68): Show c.1050+375_1050+376insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTT	CACNB1	ENSG00000067191.17	transcript	ENST00000394303.8	protein_coding	11/13			chr17	TogoVar

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