Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79358863	CTGGGTCT others(39): Show CTGGGTCTGGAGGTGTCTGTGTGAGGGACTCTGTGTGAGGGGTGCTG	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0002 a0002c0033t0002	a0002c0033t0002g0214 a0002c0033t0002g0214	1	298	0.0034	-46	c.290 others(63): Show c.2904-462_2904-417delTCTGTGTGAGGGGTGCTGTGGGTCTGGA GGTGTCTGTGTGAGGGAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79374257	AAGGCGCT others(39): Show AAGGCGCTGAGCCCCGTCGGTCACTGGCTGGCCGGTCCCCTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0154	1	298	0.0034	-46	c.327 others(63): Show c.3274+256_3274+301delGAGCCCCGTCGGTCACTGGCTGGCCGGT CCCCTGACAGGAGGCGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79374357	GAGCCCCG others(39): Show GAGCCCCGTCGGTCACTGGCTGGCCGGTCCCCTGACAGGAGGCGCTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00609.hp2 others(96): Show HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp2 NA18970.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0013	a0001c0001 a0001c0003 a0001c0010 others(9): Show a0001c0001 a0001c0003 a0001c0010 a0001c0015 a0001c0025 a0001c0026 a0001c0038 a0002c0005 a0004c0008 a0005c0016 a0008c0030 a0013c0023	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0010t0001 a0001c0015t0001 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0002c0005t0001 a0002c0005t0004 a0004c0008t0001 a0005c0016t0001 a0008c0030t0001 a0013c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(96): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0010t0001g0296 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0038t0001g0265 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0004g0184 a0004c0008t0001g0270 a0005c0016t0001g0169 a0005c0016t0001g0171 a0008c0030t0001g0254 a0013c0023t0001g0042	99	298	0.3322	-46	c.327 others(63): Show c.3274+302_3274+347delAAGCCCCGTCGGTCACTGGCTGGCCGGT CCCCTGACAGGAGGCGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79374403	AAGCCCCG others(39): Show AAGCCCCGTCGGTCACTGGCTGGCCGGTCCCCTGACAGGAGGCGCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(8): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01517.hp2 HG02109.hp1 HG02293.hp2 HG02300.hp1 HG03239.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0007 a0002c0002t0001 a0001c0006t0007 a0002c0002t0001	a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 others(8): Show a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172	11	298	0.0369	-46	c.327 others(63): Show c.3274+418_3274+463delCGGTCCCCTGACAGGAGGCGCTGAGCCC CGTCGGTCACTGGCTGGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02258.hp1 HG02280.hp2 others(1): Show HG01517.hp1 HG02258.hp1 HG02280.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0059 a0002c0002t0001g0306 a0002c0002t0002g0115 others(1): Show a0001c0001t0002g0059 a0002c0002t0001g0306 a0002c0002t0002g0115 a0002c0002t0002g0151	4	446	0.0090	-46	c.287 others(61): Show c.287+693_287+738delACACACACACACACACACACACACACACAC ACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXIN1_chr16_282440_357723	283969	ATTCTCCT others(39): Show ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATACGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	378	0.0027	-46	c.41 others(57): Show c.4107_*4152delGCGTATGCCTATAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		3470		chr16	TogoVar
AXIN1_chr16_282440_357723	292876	GAGGGCGC others(39): Show GAGGGCGCAGTGAGGAGGGCTGTGGGCTGGACGTCCCGGATGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02559.hp1 others(4): Show HG00639.hp1 HG01884.hp2 HG02559.hp1 HG02630.hp1 HG02970.hp2 NA19043.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0003 a0001c0005t0004 a0001c0002t0001 a0001c0005t0003 a0001c0005t0004	a0001c0002t0001g0148 a0001c0005t0003g0105 a0001c0005t0004g0109 others(4): Show a0001c0002t0001g0148 a0001c0005t0003g0105 a0001c0005t0004g0109 a0001c0005t0004g0156 a0001c0005t0004g0157 a0001c0005t0004g0167 a0001c0005t0004g0169	7	378	0.0185	-46	c.218 others(63): Show c.2186+566_2186+611delTCTCTCATCCGGGACGTCCAGCCCACAG CCCTCCTCACTGCGCCCT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	8/10			chr16	TogoVar
AXIN1_chr16_282440_357723	292882	GCAGTGAG others(39): Show GCAGTGAGGAGGGCTGTGGGCTGGACGTCCCGGATGAGAGAAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01167.hp1 others(11): Show HG00099.hp2 HG00735.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG02109.hp2 HG02572.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 NA19030.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0027 a0003c0008	a0001c0002t0001 a0001c0003t0003 a0001c0003t0007 others(5): Show a0001c0002t0001 a0001c0003t0003 a0001c0003t0007 a0001c0004t0001 a0001c0004t0042 a0001c0027t0014 a0003c0008t0007 a0003c0008t0037	a0001c0002t0001g0123 a0001c0003t0003g0183 a0001c0003t0003g0223 others(11): Show a0001c0002t0001g0123 a0001c0003t0003g0183 a0001c0003t0003g0223 a0001c0003t0007g0266 a0001c0003t0007g0267 a0001c0003t0007g0270 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0042g0079 a0001c0027t0014g0093 a0003c0008t0007g0272 a0003c0008t0007g0274 a0003c0008t0037g0273	14	378	0.0370	-46	c.218 others(63): Show c.2186+560_2186+605delTGCCCTTCTCTCATCCGGGACGTCCAGC CCACAGCCCTCCTCACTG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	8/10			chr16	TogoVar
AXIN1_chr16_282440_357723	292908	GTCCCGGA others(39): Show GTCCCGGATGAGAGAAGGGCACAGTGAGGAGGGCTGTGGGCTGGACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02280.hp2 others(10): Show HG01243.hp2 HG01891.hp2 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03453.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0004 a0001c0004t0001 a0001c0005t0003	a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 others(10): Show a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0002t0001g0106 a0001c0003t0004g0301 a0001c0004t0001g0193 a0001c0005t0003g0262	13	378	0.0344	-46	c.218 others(63): Show c.2186+534_2186+579delTGTCCAGCCCACAGCCCTCCTCACTGTG CCCTTCTCTCATCCGGGA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	8/10			chr16	TogoVar
AXIN1_chr16_282440_357723	292912	CGGATGAG others(39): Show CGGATGAGAGAAGGGCACAGTGAGGAGGGCTGTGGGCTGGACATCCA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0080 a0001c0004t0023g0080	1	378	0.0027	-46	c.218 others(63): Show c.2186+530_2186+575delTGGATGTCCAGCCCACAGCCCTCCTCAC TGTGCCCTTCTCTCATCC	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	8/10			chr16	TogoVar
AXIN1_chr16_282440_357723	292932	TGAGGAGG others(39): Show TGAGGAGGGCTGTGGGCTGGACATCCAGGATGACAAGAGGACACAGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	378	0.0027	-46	c.218 others(63): Show c.2186+510_2186+555delGCTGTGTCCTCTTGTCATCCTGGATGTC CAGCCCACAGCCCTCCTC	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	8/10			chr16	TogoVar
B3GAT1_chr11_134373508_134417242	134385558	GATGGGTG others(39): Show GATGGGTGTCTAGGGTTCTGACCTAGACAGAGGACTTAATTCATCCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02723.hp2 others(2): Show HG01243.hp2 HG02615.hp2 HG02723.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0002g0322 a0001c0001t0003g0195 a0001c0001t0012g0265 others(2): Show a0001c0001t0002g0322 a0001c0001t0003g0195 a0001c0001t0012g0265 a0001c0001t0012g0266 a0001c0001t0012g0270	5	352	0.0142	-46	c.113 others(63): Show c.113-1416_113-1371delAGGATGAATTAAGTCCTCTGTCTAGGTC AGAACCCTAGACACCCAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	2/5			chr11	TogoVar
BAG4_chr8_38171855_38218301	38188631	ATATACAT others(39): Show ATATACATATATACATGTATACATATATACATGTATACATATACATG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	306	0.0033	-46	c.271 others(63): Show c.271-4028_271-3983delCATGTATACATATACATGTATACATATA TACATGTATACATATATA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG5_chr14_103551551_103567657	103565284	ATTATAGA others(39): Show ATTATAGAACTTAAGAGTCAGGCACCATTCTTCCTTCCAAATCCATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-46	c.-27 others(57): Show c.-2743_-2698delGATGGATTTGGAAGGAAGAATGGTGCCTGACTCT TAAGTTCTATAA	BAG5	ENSG00000166170.12	transcript	ENST00000299204.6	protein_coding		2628		chr14	TogoVar
BAHCC1_chr17_81390457_81471331	81438730	CTCACTGC others(39): Show CTCACTGCTCAGGTGGGAGCAGCTGAGCTGGTGCCCACCTTCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0030 a0002c0001t0001g0030	1	332	0.0030	-46	c.481 others(61): Show c.481+239_481+284delTCACTGCTCAGGTGGGAGCAGCTGAGCTGG TGCCCACCTTCCTCAT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	4/27			chr17	TogoVar
BANP_chr16_87946434_88082316	87975572	CATGTGCG others(39): Show CATGTGCGGCGTCATGGAACCTTACCATGTTGTGTGTGTAATCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0153 a0001c0004t0004g0153	1	352	0.0028	-46	c.70+ others(59): Show c.70+388_70+433delATGTGCGGCGTCATGGAACCTTACCATGTTGT GTGTGTAATCCCCT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	2/13			chr16	TogoVar
BANP_chr16_87946434_88082316	87975694	GGTGTGTG others(39): Show GGTGTGTGTAATCCCCTGTGCGTGGCGTCATGGAACCTTCCCATGTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG03209.hp2 others(2): Show HG01891.hp2 HG02280.hp2 HG03209.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0031 a0001c0008 a0001c0031	a0001c0008t0001 a0001c0031t0001 a0001c0008t0001 a0001c0031t0001	a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 others(2): Show a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 a0001c0008t0001g0347 a0001c0031t0001g0162	5	352	0.0142	-46	c.70+ others(59): Show c.70+534_70+579delCGTCATGGAACCTTCCCATGTTGTGTGTGTAA TCCCCTGTGCGTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87975808	CGGCGTCA others(39): Show CGGCGTCATGGAACCTTATCATGTTGTGTGTGTAATCCCCTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00735.hp2 others(45): Show HG00438.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02300.hp1 HG02451.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp2 NA18949.hp1 NA18975.hp2 NA18984.hp1 NA18989.hp2 NA19000.hp2 NA19002.hp2 NA19043.hp1 NA19060.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0008 a0001c0010 others(6): Show a0001c0004 a0001c0008 a0001c0010 a0001c0020 a0001c0026 a0001c0027 a0002c0018 a0002c0019 a0002c0028	a0001c0004t0004 a0001c0004t0012 a0001c0008t0004 others(8): Show a0001c0004t0004 a0001c0004t0012 a0001c0008t0004 a0001c0010t0007 a0001c0020t0007 a0001c0026t0004 a0001c0027t0007 a0002c0018t0016 a0002c0019t0017 a0002c0019t0018 a0002c0028t0015	a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 others(45): Show a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0115 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0145 a0001c0004t0004g0148 a0001c0004t0004g0150 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0004g0154 a0001c0004t0004g0155 a0001c0004t0004g0157 a0001c0004t0004g0166 a0001c0004t0004g0167 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0012g0135 a0001c0004t0012g0140 a0001c0008t0004g0146 a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0127 a0001c0010t0007g0149 a0001c0010t0007g0151 a0001c0010t0007g0156 a0001c0010t0007g0158 a0001c0010t0007g0159 a0001c0020t0007g0141 a0001c0020t0007g0147 a0001c0026t0004g0133 a0001c0027t0007g0090 a0002c0018t0016g0134 a0002c0019t0017g0086 a0002c0019t0018g0085 a0002c0028t0015g0087	48	352	0.1364	-46	c.70+ others(59): Show c.70+641_70+686delTCATGTTGTGTGTGTAATCCCCTGTGTGTGGC GTCATGGAACCTTA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87975857	CGTCATGG others(39): Show CGTCATGGAACCTTACCATGTGGTGTGTGTAATCCCCTGTGTGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(136): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0014 a0001c0016 a0001c0017 a0001c0032 a0001c0033 a0002c0013 a0002c0015 a0002c0024 a0002c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0002t0002 a0001c0005t0003 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0001 a0001c0009t0005 a0001c0014t0019 a0001c0016t0003 a0001c0017t0001 a0001c0032t0005 a0001c0033t0001 a0002c0013t0001 a0002c0015t0002 a0002c0024t0003 a0002c0029t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 others(134): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0288 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0181 a0001c0001t0005g0253 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0013g0205 a0001c0001t0014g0193 a0001c0001t0020g0264 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0005t0003g0225 a0001c0006t0002g0001 a0001c0006t0002g0005 a0001c0006t0002g0067 a0001c0006t0002g0071 a0001c0006t0002g0072 a0001c0006t0002g0073 a0001c0006t0002g0075 a0001c0006t0002g0077 a0001c0006t0002g0078 a0001c0006t0002g0079 a0001c0006t0002g0083 a0001c0006t0002g0128 a0001c0006t0002g0280 a0001c0006t0002g0281 a0001c0007t0001g0118 a0001c0007t0002g0211 a0001c0007t0002g0215 a0001c0009t0001g0189 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0014t0019g0199 a0001c0016t0003g0068 a0001c0017t0001g0242 a0001c0032t0005g0107 a0001c0033t0001g0178 a0002c0013t0001g0169 a0002c0013t0001g0170 a0002c0013t0001g0172 a0002c0015t0002g0065 a0002c0024t0003g0171 a0002c0029t0001g0173	139	352	0.3949	-46	c.70+ others(59): Show c.70+785_70+830delGGTGTGTGTAATCCCCTGTGTGTGGTGTCATG GAACCTTACCATGT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BAZ2B_chr2_159313979_159621548	159325041	TATTATAT others(39): Show TATTATATATATATATATATTATATATATATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00544.hp1 others(44): Show HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02683.hp2 HG02738.hp1 HG03041.hp2 HG03098.hp1 HG03654.hp2 HG06807.hp1 NA18950.hp1 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA19000.hp2 NA19002.hp2 NA19055.hp1 NA19057.hp1 NA19064.hp2 NA19072.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19240.hp1	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0007 a0011 a0012 a0015 a0018	a0001c0001 a0005c0005 a0006c0016 others(5): Show a0001c0001 a0005c0005 a0006c0016 a0007c0010 a0011c0031 a0012c0021 a0015c0025 a0018c0032	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0005c0005t0002 a0006c0016t0002 a0007c0010t0001 a0011c0031t0001 a0012c0021t0002 a0015c0025t0001 a0018c0032t0002	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(44): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0002g0134 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0005c0005t0001g0069 a0005c0005t0002g0202 a0006c0016t0002g0146 a0007c0010t0001g0114 a0011c0031t0001g0108 a0012c0021t0002g0171 a0015c0025t0001g0116 a0018c0032t0002g0154	47	216	0.2176	-46	c.621 others(62): Show c.6210-133_6210-88delTATATATATAATATATATATATATATAAT ATATATATATATATAAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BCOR_chrX_40046251_40102958	40046530	ATAAATAT others(39): Show ATAAATATATATATATATATGTATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02965.hp1 HG02976.hp1 others(2): Show HG02818.hp2 HG02965.hp1 HG02976.hp1 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0001	a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0003g0123 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0003g0123 a0001c0001t0009g0047 a0001c0003t0001g0172	5	257	0.0195	-46	c.55 others(57): Show c.5533_*5578delCATATATATATATATATATATATATACATATATA TATATATATTTA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4720		chrX	TogoVar
BICD1_chr12_32101847_32388633	32348721	AAAATATA others(39): Show AAAATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	290	0.0035	-46	c.276 others(65): Show c.2764+9744_2764+9789delAATATATATATATATATATATATATA TATATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BIN2_chr12_51276038_51329174	51295571	AAAAAAAA others(39): Show AAAAAAAATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18954.hp1 NA18963.hp2 HG03490.hp1 NA18954.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0227 a0001c0001t0003g0374 a0001c0001t0004g0108 a0001c0001t0001g0227 a0001c0001t0003g0374 a0001c0001t0004g0108	3	400	0.0075	-46	c.761 others(61): Show c.761+179_761+224delATATATATATATATATATATATATATATAT ATATATATATTTTTTT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51295573	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00741.hp1 others(29): Show HG00323.hp1 HG00558.hp1 HG00741.hp1 HG01106.hp2 HG01192.hp2 HG01358.hp1 HG01358.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02683.hp2 HG03239.hp1 HG03831.hp2 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18954.hp2 NA18959.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA19009.hp2 NA19086.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0020 a0001c0001 a0007c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0007c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0228 a0001c0001t0003g0003 a0001c0001t0003g0082 a0001c0001t0003g0085 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0158 a0001c0001t0004g0109 a0001c0001t0004g0157 a0007c0020t0001g0375	32	400	0.0800	-46	c.761 others(61): Show c.761+177_761+222delATATATATATATATATATATATATATATAT ATATATATATATTTTT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BMAL1_chr11_13272790_13392266	13284188	ATATATGT others(39): Show ATATATGTGTGTATATATATATGTGTATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	314	0.0032	-46	c.-26 others(65): Show c.-263+6271_-263+6316delGTGTGTATATATATATGTGTATATAT ATATATATGTGTGTGTATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMP7_chr20_57163753_57271641	57222831	TCCAGAGG others(39): Show TCCAGAGGCTTCTGGAAGCTTCCAGAAGCTTCCAGAAGCCTCTGGAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG00741.hp2 others(38): Show HG00558.hp2 HG00738.hp2 HG00741.hp2 HG01167.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18947.hp1 NA18957.hp2 NA18963.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0005t0011	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 others(37): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0217 a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0089 a0001c0001t0002g0106 a0001c0001t0002g0210 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0039 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0254 a0001c0001t0006g0232 a0001c0001t0006g0243 a0001c0001t0006g0251 a0001c0001t0012g0233 a0001c0001t0014g0237 a0001c0001t0023g0038 a0001c0001t0024g0041 a0001c0005t0011g0234 a0001c0005t0011g0235	41	272	0.1507	-46	c.611 others(63): Show c.611+5352_611+5397delCTCCAGAGGCTTCTGGAAGCTTCTGGAA GCTTCCAGAAGCCTCTGG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp2 NA19240.hp1 HG02886.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0328 a0001c0001t0001g0339 a0001c0001t0001g0340	3	424	0.0071	-46	c.116 others(63): Show c.1169-431_1169-386delTATATATATATATATATATATATATATA TATATATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BPIFC_chr22_32408845_32469446	32424650	CTTCTTCT others(39): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02897.hp2 others(5): Show HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0011c0013 a0001c0001 a0003c0003 a0011c0013	a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 a0011c0013t0002	a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 others(5): Show a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0003c0003t0001g0298 a0003c0003t0004g0204 a0011c0013t0002g0196 a0011c0013t0002g0300	8	422	0.0190	-46	c.121 others(65): Show c.1218-5292_1218-5247delAGAGGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BSG_chr19_567596_588493	580799	GCTGGGGG others(39): Show GCTGGGGGTCCTGGACCCAGCCCTCAGGACTGGGTGAGAGGCCTAGA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	306	0.0033	-46	c.792 others(59): Show c.792+28_792+73delTGGACCCAGCCCTCAGGACTGGGTGAGAGGCC TAGACTGGGGGTCC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BSG_chr19_567596_588493	581008	CGGACTGG others(39): Show CGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02257.hp2 others(11): Show HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02723.hp2 HG02970.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0009 a0001c0001 a0001c0004 a0004c0009	a0001c0001t0003 a0001c0001t0021 a0001c0001t0023 others(4): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0004t0003 a0004c0009t0003 a0004c0009t0022	a0001c0001t0003g0021 a0001c0001t0003g0051 a0001c0001t0003g0069 others(9): Show a0001c0001t0003g0021 a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0165 a0001c0001t0021g0074 a0001c0001t0023g0068 a0001c0001t0024g0072 a0001c0004t0003g0034 a0001c0004t0003g0166 a0004c0009t0003g0092 a0004c0009t0022g0091	14	306	0.0458	-46	c.792 others(61): Show c.792+233_793-255delGGTGAGGGGCCTAGACTGGGGGTCCCGGAC CCAGCCCTCTGGACTG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BSG_chr19_567596_588493	581152	CCAGCCCT others(39): Show CCAGCCCTCCGGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	306	0.0033	-46	c.793 others(60): Show c.793-108_793-63delCGGACTGGGTGAGGGGCCTAGACTGGGGGTC CCGGACTCAGCCCTC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BUB1B_chr15_40156069_40226123	40193008	GGCTGGCT others(39): Show GGCTGGCTTATTATTTTTTTTTTTTAAAGATGGGGTCTCACTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0292 a0007c0010t0001g0292	1	352	0.0028	-46	c.105 others(65): Show c.1059-3534_1059-3489delTGGCTTATTATTTTTTTTTTTTAAAG ATGGGGTCTCACTGTGTTGC	BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
C13orf42_chr13_51077119_51116274	51078004	GTCCGGGA others(39): Show GTCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG03942.hp2 others(1): Show HG00280.hp2 HG00735.hp1 HG03942.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0179 a0001c0001t0003g0186 others(1): Show a0001c0001t0003g0145 a0001c0001t0003g0179 a0001c0001t0003g0186 a0001c0001t0003g0221	4	452	0.0089	-46	c.61 others(57): Show c.6101_*6146delTGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCAC CTCCCTCCCGGA	C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding		4114		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113954964	GAGGATCT others(39): Show GAGGATCTGGCGGAGACGAGGAGGAGGATCTGGCAGAGAGGAGGAGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0217 a0001c0001t0057g0217	1	414	0.0024	-46	c.17 others(57): Show c.1763_*1808delACTCCTCCTCTCTGCCAGATCCTCCTCCTCGTCT CCGCCAGATCCT	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	7/7	1763		chr13	TogoVar
C19orf12_chr19_29693937_29720261	29695946	AGACACCC others(39): Show AGACACCCAGACACCCAGATGCCCAGACACCCAGACACCTGACACCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00639.hp2 others(49): Show HG00423.hp1 HG00558.hp1 HG00639.hp2 HG01433.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19079.hp1 NA19081.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 others(6): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0001t0048 a0001c0001t0050 a0001c0001t0053	a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0181 others(21): Show a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0181 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0229 a0001c0001t0010g0015 a0001c0001t0010g0172 a0001c0001t0010g0173 a0001c0001t0010g0216 a0001c0001t0010g0225 a0001c0001t0017g0026 a0001c0001t0017g0224 a0001c0001t0031g0222 a0001c0001t0036g0223 a0001c0001t0037g0217 a0001c0001t0048g0227 a0001c0001t0050g0208 a0001c0001t0053g0236	52	418	0.1244	-46	c.67 others(57): Show c.6720_*6765delAGGTGTCAGGTGTCTGGGTGTCTGGGCATCTGGG TGTCTGGGTGTC	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		2990		chr19	TogoVar
C19orf12_chr19_29693937_29720261	29719549	AATATATT others(39): Show AATATATTTATATAATATAAATATATATATTTATATAATATAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02027.hp1 NA18946.hp1 others(5): Show HG00544.hp1 HG02027.hp1 NA18946.hp1 NA18948.hp1 NA18983.hp1 NA19004.hp1 NA19009.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0038 a0001c0002t0005 a0001c0002t0038	a0001c0002t0005g0024 a0001c0002t0005g0042 a0001c0002t0005g0168 others(3): Show a0001c0002t0005g0024 a0001c0002t0005g0042 a0001c0002t0005g0168 a0001c0002t0005g0169 a0001c0002t0005g0171 a0001c0002t0038g0170	8	418	0.0191	-46	c.-44 others(57): Show c.-4481_-4436delATATTTATATTATATAAATATATATATTTATATT ATATAAATATAT	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4289		chr19	TogoVar
C1GALT1_chr7_7177544_7253616	7245984	ATAGGGAG others(39): Show ATAGGGAGCAATAAATAGAAGATTGTATTATTATTCTGTTACCTTGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0001 a0001c0001t0055g0001	1	392	0.0026	-46	c.22 others(57): Show c.2258_*2303delTAGGGAGCAATAAATAGAAGATTGTATTATTATT CTGTTACCTTGG	C1GALT1	ENSG00000106392.11	transcript	ENST00000436587.7	protein_coding	4/4	2258		chr7	TogoVar
C1orf174_chr1_3884133_3905272	3891905	GGCCCGGG others(39): Show GGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19090.hp1 HG00423.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0112 a0001c0001t0001g0116	2	440	0.0046	-46	c.130 others(61): Show c.130-894_130-849delTCTGATCCTAGCACCCGCCCACCCGTGTGT GTGTCTAGACCCGGGC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C1orf174_chr1_3884133_3905272	3891951	AGCCCGGG others(39): Show AGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp2 HG01928.hp1 others(18): Show HG00621.hp2 HG01169.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02129.hp2 HG02273.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp2 NA18948.hp2 NA18952.hp1 NA19004.hp1 NA19055.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0003t0002 a0002c0003t0004	a0001c0001t0001g0039 a0001c0001t0002g0081 a0001c0001t0004g0028 others(5): Show a0001c0001t0001g0039 a0001c0001t0002g0081 a0001c0001t0004g0028 a0001c0001t0004g0148 a0002c0003t0002g0008 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0004g0144	21	440	0.0477	-46	c.129 others(61): Show c.129+886_130-895delCCTGATCCTAGCACCCGCCCACCCGTGTGT GTGTCTAGACCCGGGC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C1orf174_chr1_3884133_3905272	3892441	CGGGTGCT others(39): Show CGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG02074.hp1 others(13): Show HG00408.hp2 HG00423.hp2 HG02074.hp1 HG02145.hp1 HG02572.hp1 HG02572.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03453.hp1 NA18941.hp2 NA18966.hp1 NA18985.hp1 NA19006.hp2 NA19064.hp2 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0006c0011 a0001c0004 a0006c0011	a0001c0004t0004 a0006c0011t0004 a0001c0004t0004 a0006c0011t0004	a0001c0004t0004g0010 a0001c0004t0004g0011 a0001c0004t0004g0049 others(1): Show a0001c0004t0004g0010 a0001c0004t0004g0011 a0001c0004t0004g0049 a0006c0011t0004g0051	16	440	0.0364	-46	c.129 others(61): Show c.129+396_129+441delTCCCACCCGTGTGTGTGTCTAGACCCGGGC CCTGATCCTAGCACCC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C1orf174_chr1_3884133_3905272	3892595	GGCCCGGG others(39): Show GGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	440	0.0023	-46	c.129 others(61): Show c.129+242_129+287delTCTGATCCTAGCACCCGCCCACCCGTGTGT GTGTCTAGACCCGGGC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C2CD3_chr11_74007718_74176002	74077771	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	318	0.0031	-46	c.460 others(63): Show c.4603+298_4603+343delTATATATATATATATATATATATATATA TATATATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C3_chr19_6672704_6725650	6706831	CTCCTCCC others(39): Show CTCCTCCCTCCTCAGACAGGGACCTCCTCCCTCCTCAGACGGAGGTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02886.hp2 others(8): Show HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG06807.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0006 a0001c0010 a0001c0012 others(1): Show a0001c0006 a0001c0010 a0001c0012 a0007c0038	a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 others(1): Show a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0007c0038t0001	a0001c0006t0001g0152 a0001c0010t0001g0066 a0001c0010t0001g0067 others(8): Show a0001c0006t0001g0152 a0001c0010t0001g0066 a0001c0010t0001g0067 a0001c0010t0001g0068 a0001c0010t0001g0218 a0001c0010t0001g0344 a0001c0010t0001g0345 a0001c0010t0001g0349 a0001c0012t0001g0220 a0001c0012t0001g0341 a0007c0038t0001g0053	11	370	0.0297	-46	c.224 others(63): Show c.2245+199_2245+244delAACCTCCGTCTGAGGAGGGAGGAGGTCC CTGTCTGAGGAGGGAGGA	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	17/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1059718	CGGGGCGG others(39): Show CGGGGCGGGTCTTAGGGGGGCGGGTCCGTAGTGAGGCAGGTCTTAGT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	326	0.0031	-46	c.130 others(65): Show c.130-49621_130-49576delACTAAGACCTGCCTCACTACGGACCC GCCCCCCTAAGACCCGCCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127665	CATCCCAC others(39): Show CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG02280.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0118 a0001c0001t0010g0119 a0001c0001t0007g0118 a0001c0001t0010g0119	2	326	0.0061	-46	c.-1- others(59): Show c.-1-325_-1-280delCAGCCGAGATTGTGCCACTGCACTCCAGCCCG GGTGACGGTGGGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127727	GGGCTGGA others(39): Show GGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01346.hp2 others(1): Show HG01167.hp1 HG01169.hp2 HG01346.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0114	4	326	0.0123	-46	c.-1- others(59): Show c.-1-387_-1-342delTGGGTGACGGTGAGATGAGCTGAGATCGCGCC ACTGCACTCCAGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127757	CATCTCAC others(39): Show CATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02970.hp1 others(6): Show HG02109.hp1 HG02559.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp1 NA19030.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0003 a0002c0002t0018 a0001c0001t0015 a0002c0002t0003 a0002c0002t0018	a0001c0001t0015g0319 a0001c0001t0015g0320 a0002c0002t0003g0315 others(6): Show a0001c0001t0015g0319 a0001c0001t0015g0320 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0202 a0002c0002t0018g0203	9	326	0.0276	-46	c.-1- others(59): Show c.-1-417_-1-372delCAGCCGAGATCGTGCCACTGCACTCCAGCCTG GGTGACGGTGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127839	AATCTCGG others(39): Show AATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0071 a0001c0001t0023g0071	1	326	0.0031	-46	c.-1- others(59): Show c.-1-499_-1-454delCGTGCCACTGCACTCCAGCCCGGGTGACGGTG GGATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128255	CATCTCGG others(39): Show CATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp1 others(34): Show HG00140.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG01256.hp1 HG01978.hp2 HG01981.hp1 HG02083.hp2 HG02109.hp1 HG02273.hp2 HG02559.hp2 HG02602.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 NA18944.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18982.hp2 NA18983.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19080.hp1 NA19085.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0008 others(1): Show a0001c0001 a0002c0002 a0004c0008 a0006c0006	a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 a0002c0002t0003 a0002c0002t0018 a0004c0008t0001 a0006c0006t0005	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0021 others(34): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0015g0319 a0001c0001t0015g0320 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0202 a0002c0002t0018g0203 a0004c0008t0001g0050 a0006c0006t0005g0296	37	326	0.1135	-46	c.-1- others(59): Show c.-1-915_-1-870delTGTGCCACTGCACTCCAGCCCGGGTGACGGTG GGATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128301	AATCTCGG others(39): Show AATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 HG02071.hp1 others(11): Show HG01123.hp1 HG01255.hp1 HG02071.hp1 HG02698.hp2 HG03704.hp1 HG04204.hp1 NA18948.hp1 NA18959.hp2 NA18964.hp1 NA18983.hp2 NA18985.hp2 NA19064.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029	a0001c0001t0001g0067 a0001c0001t0002g0208 a0001c0001t0002g0209 others(11): Show a0001c0001t0001g0067 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0003g0213 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0226 a0001c0001t0015g0225 a0001c0001t0029g0224	14	326	0.0429	-46	c.-1- others(59): Show c.-1-961_-1-916delGGCGCCACTGCACTCCAGCCCGGGTGACGGTG GGATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar

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