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
ADGRB3_chr6_68630282_69394506	69100846	G G	GAGGGAGG others(242): Show GAGGGAGGGAAGGAAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGA GGGAGGGAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAG GAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGA GGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAG GCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01257.hp1 others(6): Show HG01069.hp1 HG01071.hp1 HG01257.hp1 HG01978.hp1 HG02040.hp1 HG02074.hp1 HG03098.hp2 NA18957.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0002c0005 a0001c0002 a0002c0004 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0002	a0001c0002t0001g0010 a0001c0002t0001g0042 a0001c0002t0002g0113 others(6): Show a0001c0002t0001g0010 a0001c0002t0001g0042 a0001c0002t0002g0113 a0001c0002t0002g0117 a0001c0002t0002g0119 a0002c0004t0001g0031 a0002c0004t0002g0118 a0002c0005t0002g0025 a0002c0005t0002g0026	9	120	0.0750	249	c.248 others(270): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAAGGAAGGAAGGAAG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69100846	G G	GAGGGAGG others(242): Show GAGGGAGGGAAGGAAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGA GGGAGGGAGGGAAGGAAGTAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAG GAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGA GGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAG GCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	120	0.0083	249	c.248 others(270): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGTAAGGAGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAAGGAAGGAAGGAAG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69100856	A A	AGGAAGGA others(242): Show AGGAAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGG GAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGA AGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGG GAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTG AGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01257.hp2 HG01433.hp1 others(12): Show HG01167.hp1 HG01257.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03579.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0004t0002	a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0077 others(12): Show a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0001g0108 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0101 a0001c0002t0001g0088 a0001c0002t0001g0096 a0001c0002t0001g0106 a0001c0002t0002g0037 a0001c0002t0002g0041 a0002c0004t0002g0066	15	120	0.1250	249	c.248 others(270): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAGGGAAGGAAGGAAG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
AHRR_chr5_316714_443285	397203	A A	ATAGCCCC others(242): Show ATAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGAC CGTCCACGTAGCTCCTGACCGTCCATGTTAGCCCCTGACCATGTTAGCCC CTGACCATCCCTGTTAGCCCCTGACCATCCATGTAGCCCCGACCATCCAT GTTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCATGTTAGCCCCTG ACCATCCCTGTTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0020 a0014c0014t0020	a0014c0014t0020g0035 a0014c0014t0020g0035	1	268	0.0037	249	c.352 others(268): Show c.352-16091_352-16090insGTCCACGTAGCTCCTGACCGTCCATG TTAGCCCCTGACCATGTTAGCCCCTGACCATCCCTGTTAGCCCCTGACCA TCCATGTAGCCCCGACCATCCATGTTAGCCCCTGACCATCCACGTAGCCC CTGACCATCCATGTTAGCCCCTGACCATCCCTGTTAGCCCCTGACCATCC ACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCCCCT GACCATCCACGTAGCCCCTGACC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGAGAG others(242): Show GGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGAGAGGG GAGAGGGGGGCGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGGGG GAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGA GGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGG GAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0350 a0001c0001t0017g0350	1	356	0.0028	249	c.667 others(264): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCCTTCCCCCTC TCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCGCCCCCCTCTCCCCTCTCCCCCTCTCCCCCTCTCCCCTCTC CCCCCTCTCCCCCTCTCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(242): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGG GGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGG GGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	356	0.0028	249	c.667 others(264): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTT CCCCCTCTCCCCCCTCTCCCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCC CTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(242): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATTTAT ATATATAGAATATATATATAGAATATATATTTATATATATAGAATATATA TATAGAATATATATTTATATATATAGAATATATATATAGAATATATATTT ATATATATAGAATATATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01192.hp1 others(8): Show HG00558.hp2 HG00621.hp2 HG01192.hp1 HG01261.hp2 HG01943.hp1 HG03654.hp2 HG03831.hp2 NA18963.hp2 NA18980.hp2 NA19056.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0002c0004t0003 a0002c0008t0002	a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0099 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0200 a0001c0001t0003g0096 a0001c0001t0003g0114 a0001c0001t0003g0189 a0001c0002t0002g0145 a0002c0004t0003g0188 a0002c0008t0002g0111	11	288	0.0382	249	c.70- others(266): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATAAATA TATATTCTATATATATATTCTATATATATAAATATATATTCTATATATAT ATTCTATATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKRD11_chr16_89262630_89495561	89305875	C C	CCTACCTC others(242): Show CCTACCTCCCACTCCGCAGACACGCGCCACCTACCTCCCACTCCGCAGAC ACGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCCGC AGACACGCGCCACTTACCTCCCCCTCCGCAGACACACGCCACCTACCTCC CCCTCCGCAGACACGTGCCACCTCCCACTCCGCAGACACGCGCCACCTAC CTCCCACTCCGCAGACACGCGCCACTTACCTCCCACTCCGCAGACACGCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0126 a0001c0006t0003g0126	1	310	0.0032	249	c.88- others(262): Show c.88-532_88-531insCGCGTGTCTGCGGAGTGGGAGGTAAGTGGCGC GTGTCTGCGGAGTGGGAGGTAGGTGGCGCGTGTCTGCGGAGTGGGAGGTG GCACGTGTCTGCGGAGGGGGAGGTAGGTGGCGTGTGTCTGCGGAGGGGGA GGTAAGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGT GGGAGGTAGGTGGCGCGTGTCTGCGGAGTGGGAGGTAGGTGGCGCGTGTC TGCGGAGTGGGAGGTAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
APOA4_chr11_116815700_116828304	116818426	A A	ATATATAT others(242): Show ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATTA TATATGAATATATATATGAATATATATATGAATATATATGAATATATATA TGAATTATATATGAATATATATATGAATATATATGAATATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0006	1	462	0.0022	249	c.24 others(260): Show c.2440_*2441insATTCATATATATATTCATATATATTCATATATAT ATTCATATATAATTCATATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATAATTCATATATATATTCATATATATTCATATAT ATATTCATATATATTCATATATATATTCATATATATTCATATATATATTC ATATATATATTCATATATATTCATATATATATTCATATATATATTCATAT ATATTCATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2273		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02735.hp1 HG02074.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0092 a0001c0001t0001g0035 a0001c0001t0001g0092	2	342	0.0059	249	c.62 others(260): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGG GGGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	342	0.0029	249	c.62 others(260): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGG GGGAGGGGGAGTGTGGGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGTGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGGAGGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	342	0.0029	249	c.62 others(260): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGTGGG GGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGGAGGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGGAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTG TGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	342	0.0029	249	c.62 others(260): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGAAGGGGGAGTGCG GGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGCAGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGT GGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	342	0.0029	249	c.62 others(260): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGCAG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGG GGGGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGT GGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	342	0.0029	249	c.62 others(260): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGG GGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687084	A A	ACCCCCGT others(242): Show ACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGC ACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGACCATTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0026 a0001c0001t0001g0027	2	246	0.0081	249	c.-14 others(260): Show c.-1481_-1480insGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAA GTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGT GCGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1239		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687141	G G	GGTGAGCA others(242): Show GGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCA CCCCTGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTC ATTTACAGCGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCTGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCTGT GACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	246	0.0041	249	c.-15 others(260): Show c.-1538_-1537insTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTCACCGCCAGTGCGTGG TCACAGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGA AGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAG TGCGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1296		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687153	C C	CCACCCCT others(242): Show CCACCCCTGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGA GCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCC GTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0182 a0001c0006t0001g0182	1	246	0.0041	249	c.-15 others(260): Show c.-1550_-1549insAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCA CAGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGC GTGGTCACAGGGGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1308		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687567	G G	GGTGAGCA others(242): Show GGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCA CCCCCGTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	246	0.0041	249	c.-19 others(260): Show c.-1964_-1963insTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTGG TGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG GTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1722		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687637	G G	GGTGAGCA others(242): Show GGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCA CCCCCGTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	246	0.0041	249	c.-20 others(260): Show c.-2034_-2033insTGCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTGG TGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG GTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1792		chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(242): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCC TCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	264	0.0038	249	c.102 others(266): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCACTCCC CCTCCCCCTCCCCACTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCC CCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARVCF_chr22_19964896_20021823	19994441	A A	AGAACATA others(242): Show AGAACATATAGATGAATGGATGGATGGGTGGGTGGGGGGATGGTGGAGGA TGAACATATAGATGAATGGATGGATGGGTGGGTGGGGGGATGGTGGAGGA TGAACAAACAGATGAATGGATGGATGGGTGGGTGGGGGGATGGTGGAGGA TGAACATATGGATGAATGGATGGATGGGTGGGTGGGGGGATGGTGGAGGA TGAACATATGGATGAATGGATGGATGGGTGGGTGGGGGATGGTGGAGGAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0240 a0005c0005t0004g0240	1	374	0.0027	249	c.-18 others(266): Show c.-18-3878_-18-3630dupATCCTCCACCATCCCCCACCCACCCATC CATCCATTCATCCATATGTTCATCCTCCACCATCCCCCCACCCACCCATC CATCCATTCATCCATATGTTCATCCTCCACCATCCCCCCACCCACCCATC CATCCATTCATCTGTTTGTTCATCCTCCACCATCCCCCCACCCACCCATC CATCCATTCATCTATATGTTCATCCTCCACCATCCCCCCACCCACCCATC CATCCATTCATCTATATGTTC	ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding	2/19			chr22	TogoVar
ASAP1_chr8_130047104_130448674	130049454	G G	GGAGGGCA others(242): Show GGAGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAA CACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGG AGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	308	0.0033	249	c.52 others(260): Show c.5276_*5277insATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCAT GTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCC CCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCC CCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTA TTCCCCTCTGCCCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2649		chr8	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCTTCCAC others(242): Show TCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACC TTCCACCTTCCACCTTCCGCCTTCTGCCTTCCACCTTCCACCTTCGACCT TCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCA CCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGT CTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0017 a0004c0005t0017	a0004c0005t0017g0184 a0004c0005t0017g0184	1	394	0.0025	249	c.170 others(268): Show c.170-23329_170-23328insCACCTTCTTCCACCTTCCACCTTCCA CCTTCCGCCTTCTGCCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGC CTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCACCTTC GACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCC TTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(242): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGGGGAGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGAGAGGGGGGATGGGGAGGGGGG AGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGAT GGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	298	0.0034	249	c.51+ others(262): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCCCCT CCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCTCCCTCCCC CTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(242): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAAGGGGAGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGG GAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGAT GGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0003	1	298	0.0034	249	c.51+ others(262): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCCCCCTCCTCCCCAGTCCATCTCCCTCCCC CTCTCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCTC CCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCC CCATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCC CTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BLTP1_chr4_122147331_122367752	122211056	T T	TCTCTATG others(242): Show TCTCTATGGACCTCTACTAAATGCCTTTTTGTGTATAAAGGTATGATTCT TAAAAACAACTTACATACTTTTAAATATAGACAAAGCAATTAAAATTTAA TTGAAAATTGAGACCGTTTGAAATAGCCAGTTGGATTATTTAAAGTGTTG AGGATATACCAGATATGTTGACTGGACTTGGGGTGCTAGACTCAATTACA AAATTATTTATTAAAAATAGTACTCCTCAGTTCAGCATTCTATGCTGGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20905.hp2 HG00738.hp2 NA20905.hp2	a0011 a0011	a0011c0040 a0011c0041 a0011c0040 a0011c0041	a0011c0040t0001 a0011c0041t0001 a0011c0040t0001 a0011c0041t0001	a0011c0040t0001g0248 a0011c0041t0001g0246 a0011c0040t0001g0248 a0011c0041t0001g0246	2	336	0.0060	249	c.224 others(266): Show c.2247+201_2247+202insATGCTGGACCTCTATGGACCTCTACTAA ATGCCTTTTTGTGTATAAAGGTATGATTCTTAAAAACAACTTACATACTT TTAAATATAGACAAAGCAATTAAAATTTAATTGAAAATTGAGACCGTTTG AAATAGCCAGTTGGATTATTTAAAGTGTTGAGGATATACCAGATATGTTG ACTGGACTTGGGGTGCTAGACTCAATTACAAAATTATTTATTAAAAATAG TACTCCTCAGTTCAGCATTCT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	20/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(242): Show ATACATATATTATATATGTATATATATAATATATACATATATTATATATG TATATATTATATATACATATATTATATATGTATATATTATATATAAAATA TATATAATATATATTAAAAATATATATTATATATATTAAAAATATATATT ATATATATTAAAAATATATATTATTATATATATTAAAAATATATATTATA TATATTAAAATATATATATAATATATATTAAAAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0014 a0003c0003t0004g0014	1	186	0.0054	249	c.225 others(268): Show c.225-18719_225-18718insCATATATTATATATGTATATATATAA TATATACATATATTATATATGTATATATTATATATACATATATTATATAT GTATATATTATATATAAAATATATATAATATATATTAAAAATATATATTA TATATATTAAAAATATATATTATATATATTAAAAATATATATTATTATAT ATATTAAAAATATATATTATATATATTAAAATATATATATAATATATATT AAAAATATATATTATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTAF1_chr10_91918770_92036437	92012233	C C	CCTCCTCC others(242): Show CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTCCC TTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCCTGTATCTCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	330	0.0030	249	c.431 others(266): Show c.4311+822_4311+823insTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCC TTCTCCCCTCCCCTCCCTTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCC CCTGTATCTCCTCCCCTCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18208764	T T	TGGAAAGG others(242): Show TGGAAAGGCAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	200	0.0050	249	c.213 others(268): Show c.213+57804_213+57805insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGAGGAAAGGCAACTCTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(242): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0327 a0001c0004t0002g0327	1	410	0.0024	249	c.-22 others(266): Show c.-22-1977_-22-1976insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGTCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909401	A A	ACCCCTCC others(242): Show ACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCCCGCCCCTC CGCCCCCCGCCCCTCCGCCCCCCGCCCCTCCGCCCCCCGCCCCTCCGCCC CCCGCCCCTCCGCCCCCGCCCCTCCGCCCCCACCCTCCGCCTCTCATCCC TCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCCTCCGCC CCTCACCCCTGCGCCCCTCACCCTCCGCCTCTCACCCCTCCGCCTCTCAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0012 a0012	a0012c0057 a0012c0057	a0012c0057t0001 a0012c0057t0001	a0012c0057t0001g0189 a0012c0057t0001g0189	1	322	0.0031	249	c.326 others(266): Show c.3260+648_3260+649insGTGAGAGGCGGAGGGGTGAGAGGCGGAG GGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGGTGG GGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGA GGGGCGGGGGCGGAGGGGCGGGGGGCGGAGGGGCGGGGGGCGGAGGGGCG GGGGGCGGAGGGGCGGGGGGCGGAGGGGCGGGGGGCGGAGGGATGAGAGG CGGAGGGTGGGGGCGGAGGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CASQ2_chr1_115695021_115773714	115761402	A A	AAAGAAGA others(242): Show AAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGGAAGGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGGAG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGG AGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0252 a0003c0005t0001g0252	1	364	0.0028	249	c.234 others(266): Show c.234+6905_234+6906insCTTCTTCTTCTTCTTCCTCTCCTTCTCC TTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCTTCCCCTTCCCCTTCCCCTTCCCCCTTCCCCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTCTTCTTCTT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(242): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0348 a0002c0003t0001g0348	1	364	0.0028	249	c.234 others(266): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTT CTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(242): Show AGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGG AAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAG GGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAA GGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGGAGGGCAGGGG AGGGGAAGGGCAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0100 a0004c0005t0100	a0004c0005t0100g0104 a0004c0005t0100g0104	1	256	0.0039	249	c.727 others(266): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCCTCCCCGTCTCCC TCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCC TCCCCTGCCCCCATCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTC CCTCCCTCCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CFAP46_chr10_132803392_132947570	132888564	G G	GCACCCCT others(242): Show GCACCCCTGCCGCCTGCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACC CCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGC CACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGT ACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCC ACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCTGCCGCCTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0113 a0006c0004t0002g0113	1	246	0.0041	249	c.330 others(268): Show c.3305-2606_3305-2605insAAGGCGGCAGGGGTGCAGGCGGCAGG GGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAG GTGGCAGGTGCAGGCGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAG GTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGCGGCAGGGGTGAA GGTGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGCGG CAGGGGTGCAGGCGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888639	G G	GCACCCCT others(242): Show GCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACC TGCCACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCG CCTGCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCAC CCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCC GCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02258.hp2 others(14): Show HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 NA18522.hp2 NA20300.hp1 NA20905.hp2	a0008 a0009 a0023 others(6): Show a0008 a0009 a0023 a0024 a0029 a0045 a0051 a0062 a0071	a0008c0009 a0008c0097 a0009c0018 others(9): Show a0008c0009 a0008c0097 a0009c0018 a0023c0058 a0023c0062 a0024c0036 a0024c0060 a0029c0100 a0045c0059 a0051c0105 a0062c0093 a0071c0098	a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 others(10): Show a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 a0009c0018t0001 a0023c0058t0001 a0023c0062t0001 a0024c0036t0001 a0024c0060t0001 a0029c0100t0002 a0045c0059t0001 a0051c0105t0001 a0062c0093t0001 a0071c0098t0002	a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 others(14): Show a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0008c0097t0001g0118 a0009c0018t0001g0172 a0009c0018t0001g0228 a0023c0058t0001g0154 a0023c0062t0001g0210 a0024c0036t0001g0169 a0024c0060t0001g0173 a0029c0100t0002g0019 a0045c0059t0001g0167 a0051c0105t0001g0239 a0062c0093t0001g0121 a0071c0098t0002g0023	17	246	0.0691	249	c.330 others(268): Show c.3305-2681_3305-2680insAAGGTGGCAGGGGTGCAGGCGGCAGG GGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAG GCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGC AGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTG AAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGG CAGGGGTGCAGGCGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGT GGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTG GGGGAAGGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	290	0.0035	249	c.-11 others(264): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAG GGGAGCGGAGTGTGGGGGAAGGGGGGAGTGCGGGGGGAGCGGGGCTGCCG AGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02735.hp2 HG02074.hp2 HG02735.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0023c0033 a0001c0001 a0023c0033	a0001c0001t0001 a0023c0033t0001 a0001c0001t0001 a0023c0033t0001	a0001c0001t0001g0188 a0023c0033t0001g0187 a0001c0001t0001g0188 a0023c0033t0001g0187	2	290	0.0069	249	c.-11 others(264): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCA GGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCG AGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0033 a0016c0024t0033	a0016c0024t0033g0042 a0016c0024t0033g0042	1	290	0.0035	249	c.-11 others(264): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCA GGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCG AGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGGAGTGT GGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTG GGGGAAGGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	290	0.0035	249	c.-11 others(264): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAG GGGAGCGGAGTGTGGGGGAAGGGGGGAGTGCGGGGGGAGCGGGGCTGCCG AGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGTGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGGAGGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0192 a0006c0010t0001g0192	1	290	0.0035	249	c.-11 others(264): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGTGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGGAGGGGGGAGTGCA GGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCG AGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGGAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTG TGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	290	0.0035	249	c.-11 others(264): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGG GGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCA GGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCG AGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(242): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGCAGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGT GGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0127 a0002c0002t0009g0127	1	290	0.0035	249	c.-11 others(264): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGCAGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGG GGGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCA GGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCG AGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178585563	G G	GGGGGTAA others(242): Show GGGGGTAACACTCCACAGCCCTGGTTGACGCTGGGGTAACACTCCACAGC CCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGT AACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCACTGGA TGGCGCTGGGGTAACGCCCTACAGCACTGGATGGCGCTGGGGTAACACTC CACAGCCCTGGTTGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0167 a0004c0006t0003g0167	1	236	0.0042	249	c.294 others(266): Show c.294+4340_294+4341insAGCGCCATCCAGGGCTGTAGGGCGTTAC CCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGTGCT GTAGGGCGTTACCCCAGCGCCATCCAGTGCTGTAGGGCATTACCCCAGCG CCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGT GTTACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACCCCAGCGTCAACC AGGGCTGTGGAGTGTTACCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(242): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	348	0.0029	249	c.13 others(260): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(242): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18948.hp2 NA18950.hp1 others(4): Show HG00621.hp2 NA18948.hp2 NA18950.hp1 NA18961.hp2 NA18966.hp2 NA18999.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0064 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0064	7	292	0.0240	249	c.165 others(264): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAGGGGGGAGGAGGGGAGG GGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGA GGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGA GGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241765466	G G	GGAGCCCC others(242): Show GGAGCCCCGGGCTGAGGGAGTAGAAGAGGGGGGAGAACTTGGGGAGATAG GAGCCCCAGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGC GAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATAG GAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGG GAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATTA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0040 a0004c0005t0010g0040	1	412	0.0024	249	c.130 others(268): Show c.1307-2243_1307-2242insAGCCCCGGGCTGAGGGAGTAGAAGAG GGGGGAGAACTTGGGGAGATAGGAGCCCCAGGCTGAGGGAGTAGGAAGAG GGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAG GGGGGAGAACTTGGGGAGATAGGAGCCCCGGGCTGAGGGAGTAGGAAGAG GGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAG GGGGGAGAAGTTGGGGAGATTAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132149226	C C	CACCCCTA others(242): Show CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0012 a0008c0010t0012	a0008c0010t0012g0015 a0008c0010t0012g0015	1	334	0.0030	249	c.-49 others(260): Show c.-4931_-4930insATGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGAGCG AGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGAGCGAGGCGGCCGCA CTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACC GAGGGGATTAGGGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4908		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(242): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	284	0.0035	249	c.101 others(268): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar

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