Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA2D1_chr7_81941444_82448777	82060168	A A	ATATATAT others(190): Show ATATATATAATATATATATATATTATATATATAATATATATATAATACAT ATATATATATAATATATATATATATTATATATATAATATATATATAATAC ATATATATATTATATATATAATATATATATATAATATATATATAATATAT ATATATTATATATATAATATATATATAATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	97	0.0103	197	c.879 others(212): Show c.879+259_879+260insATATATATATTATATATATATTATATATAT ATTATATATATAATATATATATATTATATATATATTATATATATATATTA TATATATAATATATATATGTATTATATATATATTATATATATAATATATA TATATATTATATATATATATGTATTATATATATATTATATATATAATATA TATATATATTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(190): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19043.hp1 NA18943.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0076 a0001c0001t0001 a0001c0001t0076	a0001c0001t0001g0097 a0001c0001t0076g0127 a0001c0001t0001g0097 a0001c0001t0076g0127	2	151	0.0132	197	c.625 others(214): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN11_chr6_44153820_44189401	44182166	T T	TCACACAC others(190): Show TCACACACACACACACTCACATACAGACACAACCACACCACACACACACA CACACAGACACAACCACACCACACTCACACACACACACACATACACACTC ACATACAGACACAACCACACCACACACACACACATACAGACACAACCACA CCACACACACACACACATACACACTCACATACAGACACAACCACACCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	37	0.0270	197	c.193 others(214): Show c.1939-765_1939-764insCACACTCACATACAGACACAACCACACC ACACACACACACACACAGACACAACCACACCACACTCACACACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACACATACAG ACACAACCACACCACACACACACACACATACACACTCACATACAGACACA ACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(190): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCACCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0303 a0001c0001t0004g0303	1	356	0.0028	197	c.-22 others(214): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCACCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(190): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0118 a0002c0016t0003g0118	1	356	0.0028	197	c.-22 others(214): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(190): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0238 a0003c0005t0001g0238	1	43	0.0233	197	c.234 others(214): Show c.234+6868_234+6869insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(190): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0237 a0003c0005t0001g0237	1	43	0.0233	197	c.234 others(214): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCCTCTCCTTCTCC TTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(190): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0283 a0002c0004t0004g0283	1	43	0.0233	197	c.234 others(214): Show c.234+6868_234+6869insCTTCTTCTTCTTCCTCTCCTTCTCCTTC TCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(190): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGAAGGGGAG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0321 a0002c0003t0001g0321	1	43	0.0233	197	c.234 others(214): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCTCCCCTTCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(190): Show AAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0314 a0002c0003t0006g0314	1	43	0.0233	197	c.234 others(214): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCCTC TCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTC TTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(190): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCC CTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	18	0.0556	197	c.-22 others(208): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCN4_chr8_133186039_133236690	133213962	C C	CTATATAT others(190): Show CTATATATACACTATATATAGTTATATATACTATATATACTATATATAGT ATATATACTATATATAACTATATATAGTGTATATATACTATATATAACTA TATATAGTATATATACTATATATACACTATATATAGTATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18968.hp1 NA18977.hp1 others(1): Show NA18948.hp2 NA18968.hp1 NA18977.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0320 a0001c0001t0001g0357 a0001c0001t0001g0017 a0001c0001t0001g0320 a0001c0001t0001g0357	4	297	0.0135	197	c.349 others(212): Show c.349+840_349+841insTATATATACTATATATACTATATATAGTAT ATATACTATATATAACTATATATAGTGTATATATACTATATATAACTATA TATAGTATATATACTATATATACACTATATATAGTATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTATA TATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(190): Show TTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAA TAGTATTTAAATACTATTTAAATAGTATTTAAATAGTATTTAAATACTAT TTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATAGTATTTAAATACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0109 a0001c0026t0002g0109	1	146	0.0068	197	c.125 others(214): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATAGTATTTAAATACTATTTAAATACTATT TAAATAGTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATA CTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(190): Show TTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAA TACTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTAT TTAAATAGTATTTAAATACTATTTAAATAGTATTTAAATACTATTTAAAT AGTATTTAAATACTATTTAAATACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	146	0.0068	197	c.125 others(214): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATAGTATTTAAATACTATTTAAATAGTATTTAAATACTATTTAAAT AGTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATT TAAATACTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAATA CTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(190): Show TTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAA TAGTATTTAAATACTATTTAAATAGTATTTAAATAGTATTTAAATAGTAT TTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATAGTATTTAAATACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	146	0.0068	197	c.125 others(214): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATT TAAATAGTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATA CTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD247_chr1_167425640_167523529	167435083	C C	CTCCTCCA others(190): Show CTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCT TCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTT CCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCT CCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01074.hp1 others(19): Show HG00140.hp1 HG00642.hp1 HG01074.hp1 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp2 HG01496.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02698.hp1 HG03239.hp1 HG03491.hp2 HG04184.hp2 NA18950.hp2 NA19010.hp2 NA19057.hp1 NA19063.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0042 others(19): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0290 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0327 a0001c0001t0005g0210	22	346	0.0636	197	c.336 others(212): Show c.336+315_336+316insAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCT GGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDH4_chr20_61247261_61945617	61383153	A A	ATATATAT others(190): Show ATATATATGAATATATATGATATATATGAATATATGATATATATGAATAT GTGATATATATGAATATATGTGATATATATGAATATATGATATATATGAA TATGTGTGATATATAAATATAGATGAGATATATGGTATATATGATATAGA TGAGATATATGAGATATATATGATATATAATATATATGAATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0035 a0001c0013t0006g0035	1	91	0.0110	197	c.169 others(218): Show c.169+128216_169+128217insTATATATGAATATATATGATATAT ATGAATATATGATATATATGAATATGTGATATATATGAATATATGTGATA TATATGAATATATGATATATATGAATATGTGTGATATATAAATATAGATG AGATATATGGTATATATGATATAGATGAGATATATGAGATATATATGATA TATAATATATATGAATATATATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61944222	G G	GATGAGGA others(190): Show GATGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCAAC GATGAGGAGCATTCAGACTGTCTGCACCATGGCCACCCCTTCTCACCAAC GATGAGGAGCACTGGGACTGTCTGCACCGTGGCCGCCCCTTCTCACCAAC GACGAGGAGCATCGCGGCTGTCTGCACCATGGCCGCCCCTTCTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02922.hp1 HG03209.hp1 HG01255.hp2 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0047 a0001c0007t0009 a0001c0007t0047	a0001c0007t0009g0017 a0001c0007t0009g0044 a0001c0007t0047g0065 a0001c0007t0009g0017 a0001c0007t0009g0044 a0001c0007t0047g0065	3	91	0.0330	197	c.72 others(208): Show c.7279_*7280insATGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCTTCTCACCAACGATGAGGAGCATTCAGACTGTCTGCACCATGGCCA CCCCTTCTCACCAACGATGAGGAGCACTGGGACTGTCTGCACCGTGGCCG CCCCTTCTCACCAACGACGAGGAGCATCGCGGCTGTCTGCACCATGGCCG CCCCTTCTCCCCA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3606		chr20	TogoVar
CFAP47_chrX_35914734_36390317	36182762	T T	TAAAAAAA others(190): Show TAAAAAAACTCCATAAAGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAAACAAAA AAAAAAAAAAACAAAAAAACAAAAAAACAAAAAAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0196 a0016c0018t0001g0196	1	209	0.0048	197	c.610 others(216): Show c.6104+3356_6104+3357insGAGGCAGGAGAATGGCGTGAACCTGG GAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAA AACAAAAAAAAAAAAAAACAAAAAAACAAAAAAACAAAAAAAAAAAAAAA CAAAAAAAAAAACTCCATAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	40/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCCCCC others(190): Show GCCCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCGCCCCCCCCCCCAGCGCTGCCTGTGTGGCTGCCCCCTCCCCATGCC CCCCCCGTGCTGCCCGTGTGGCTGCCCCCTCCCCATGCCCCCCCCGTGCT GCCCGTGTGGGTGCCCCTGGCCCCGTGCGGCCCCGCCCCGCCCCTCCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0046 a0046	a0046c0053 a0046c0053	a0046c0053t0001 a0046c0053t0001	a0046c0053t0001g0234 a0046c0053t0001g0234	1	246	0.0041	197	c.217 others(214): Show c.2176-102_2176-101insCCCCCCCCCCCCAACCACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCGCCCCCCCCCCCAGCGCTGCCTGTGTGG CTGCCCCCTCCCCATGCCCCCCCCGTGCTGCCCGTGTGGCTGCCCCCTCC CCATGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCGGCC CCGCCCCGCCCCTCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC4C_chr12_7724383_7752375	7733648	A A	ATTTTTTG others(190): Show ATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	445	0.0022	197	c.382 others(214): Show c.382-2737_382-2736insATTAGCCGGGCGTGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCACCTGGG CCACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATACAAAAAA	CLEC4C	ENSG00000198178.11	transcript	ENST00000360345.8	protein_coding	4/5			chr12	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(190): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18522.hp1 NA19043.hp2 HG02647.hp1 NA18522.hp1 NA19043.hp2	a0005 a0027 a0005 a0027	a0005c0015 a0027c0038 a0005c0015 a0027c0038	a0005c0015t0002 a0027c0038t0002 a0005c0015t0002 a0027c0038t0002	a0005c0015t0002g0252 a0005c0015t0002g0253 a0027c0038t0002g0279 a0005c0015t0002g0252 a0005c0015t0002g0253 a0027c0038t0002g0279	3	92	0.0326	197	c.126 others(214): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CCGAAGGAGGCAATCTTTT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55			chr10	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(190): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01109.hp2 others(6): Show HG00323.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 a0003c0003t0006	a0001c0001t0001g0040 a0001c0001t0007g0041 a0001c0001t0020g0039 others(5): Show a0001c0001t0001g0040 a0001c0001t0007g0041 a0001c0001t0020g0039 a0003c0003t0006g0008 a0003c0003t0006g0035 a0003c0003t0006g0036 a0003c0003t0006g0037 a0003c0003t0006g0038	9	16	0.5625	197	c.-11 others(212): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAG GAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A2_chr13_110302284_110518209	110355449	T T	TGTGGGGG others(190): Show TGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTA CAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0119 a0003c0007t0006g0119	1	364	0.0027	197	c.100 others(214): Show c.100-1910_100-1909insCAGTAGCTCACCTGTGTGTGGGGGTGGA GGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCT GTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGG CTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTG TGTGTGTGGGGGAGGGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(190): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0006 a0005c0020t0006	a0005c0020t0006g0073 a0005c0020t0006g0073	1	295	0.0034	197	c.100 others(214): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCT GTACAGCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(190): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0004 a0002c0019t0004	a0002c0019t0004g0365 a0002c0019t0004g0365	1	295	0.0034	197	c.100 others(214): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTG TGTGGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGTGGAGGGCT GTACAGCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGTA others(190): Show GTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGTAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0005 a0005	a0005c0043 a0005c0043	a0005c0043t0002 a0005c0043t0002	a0005c0043t0002g0273 a0005c0043t0002g0273	1	295	0.0034	197	c.100 others(214): Show c.100-1631_100-1630insTGGGGTAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCT GTACAGCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COP1_chr1_175939831_176212286	176132808	T T	TACTATAT others(190): Show TACTATATATACACACATATACACATATGTACGTATATATACTATATATA CACACATATACACATATGTACGTATATATACTATATATACACACATATAC ACATATGTACGTATATATACTATATATACACACATATACACATATGTACG TATATATACTATATATACACACATATACACATATGTACGTATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02723.hp1 HG00609.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0114 a0001c0001t0001g0041 a0001c0001t0001g0114	2	210	0.0095	197	c.968 others(214): Show c.968+2201_968+2202insGTATATATACGTACATATGTGTATATGT GTGTATATATAGTATATATACGTACATATGTGTATATGTGTGTATATATA GTATATATACGTACATATGTGTATATGTGTGTATATATAGTATATATACG TACATATGTGTATATGTGTGTATATATAGTATATATACGTACATATGTGT ATATGTGTGTATATATAGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
CPNE7_chr16_89570758_89602246	89588004	C C	CCGTGTCA others(190): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0005 a0003c0006t0003g0005	1	267	0.0037	197	c.928 others(212): Show c.928-666_928-665insCACCCGCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCGTGTCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588202	A A	ACCCACAG others(190): Show ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0003 a0010c0016t0003	a0010c0016t0003g0114 a0010c0016t0003g0114	1	322	0.0031	197	c.928 others(212): Show c.928-470_928-469insACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647259	A A	ACACCCCT others(190): Show ACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAAT CCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCC ACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	266	0.0038	197	c.51 others(208): Show c.5119_*5120insCACCCCTCCTCCTCCACAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCA CACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1915		chr15	TogoVar
CSMD2_chr1_33508998_34170230	33864936	G G	GGGAAGGG others(190): Show GGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGGAGTGGGA TGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGAGAGTGAG GAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAGGAGGGGG AGAGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp1 HG03471.hp2 others(1): Show HG01109.hp1 HG03209.hp1 HG03471.hp2 HG06807.hp1	a0002 a0012 a0025 others(1): Show a0002 a0012 a0025 a0026	a0002c0006 a0012c0019 a0025c0036 others(1): Show a0002c0006 a0012c0019 a0025c0036 a0026c0052	a0002c0006t0004 a0012c0019t0011 a0025c0036t0002 others(1): Show a0002c0006t0004 a0012c0019t0011 a0025c0036t0002 a0026c0052t0003	a0002c0006t0004g0053 a0012c0019t0011g0017 a0025c0036t0002g0044 others(1): Show a0002c0006t0004g0053 a0012c0019t0011g0017 a0025c0036t0002g0044 a0026c0052t0003g0040	4	64	0.0625	197	c.921 others(216): Show c.921-17941_921-17940insTCCCTCCCTTCCCCTCTCTCCCCCTC CTCTCCCTCCCTTCCCCTCTCTCCCCCTCCTCTCCCTCCCTTCCCCTCCT CTCCCTCCCCTCCCCTCCCCTCCTCACTCTCCCCATCCTCTCCCTCCCCC TCCTCCCCCTTCTCTCCCTCCATCCCACTCCTTCTCCCTCCCTTCCCCTC CCTTCCCTTCTCCTCCCTTCC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	5/70			chr1	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGT others(190): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGA GGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAGAGGGA TGAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGA TGGAGGGTCATGAAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	206	0.0049	197	c.827 others(212): Show c.827+380_827+381insTCCATCCCTCCATCCCCACATCCCTCTGTG ACTCTTCATGACCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTC CATCCCTCCATCCCCTCATCCCTCTGTGACTCTTCATGACCCTCCATCTC CTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCC CTCCATCCCCACATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(190): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCC CTCTCCTCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCCTCCCCCCT CCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	16	0.0625	197	c.165 others(212): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGGAGGA GGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAG GGGGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGG AGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(190): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02293.hp2 HG02004.hp1 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0038 a0001c0002t0005 a0001c0002t0038	a0001c0002t0005g0002 a0001c0002t0038g0002 a0001c0002t0005g0002 a0001c0002t0038g0002	2	283	0.0071	197	c.-11 others(208): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATATATATTTTTTTT TTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	ATTATATG others(190): Show ATTATATGATATACATATATATTATATGCATATAATATATACATATATTA TATGCATATAATATATACATATATTATATGCATATAATATATACATATAT TATATGCATATAATATATACATATATTATATGCATATAATATATACATAT ATTATATGCATATAATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03516.hp1 HG02818.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0260 a0001c0001t0007g0265 a0001c0001t0007g0260 a0001c0001t0007g0265	2	5	0.4000	197	c.126 others(214): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATATGTATATCATATAA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(190): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	26	0.0385	197	c.27 others(208): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGC GCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCG GGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG CGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DHRSX_chrX_2214506_2505976	2314304	G G	GAAGGAGG others(190): Show GAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGA AGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAG GAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGA GGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	45	0.0222	197	c.287 others(216): Show c.287-22702_287-22701insTCCCTCCCTCCCTCCTTCCCTCCTTC CCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTC CTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCT TCCCTCCCTCCCTCCCTCCTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIP2B_chr12_50499985_50753657	50593796	T T	TCTCCCCT others(190): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	275	0.0036	197	c.101 others(216): Show c.101-32179_101-32178insTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(190): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCTCCCCTCC CCTCCCCTCTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCTTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	218	0.0046	197	c.101 others(216): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCCTC TCCCCTCCCCTCCCCTCTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCTTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(190): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCTCCCCCTCTCCCCTCCC CCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTC CCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCC CTCTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0102 a0001c0001t0012g0102	1	256	0.0039	197	c.101 others(216): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCTCTCCC CCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCCTCCC CTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCC CTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTC CCCTCTCCCCTCCCCCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GAAGGGAG others(190): Show GAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAAGG GAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGC GGAGAGGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	34	0.0294	197	c.158 others(214): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC TTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCTTCCCTTCTTCTCCCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522582	A A	AGGGCCCA others(190): Show AGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCA GGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0336 a0002c0002t0002g0336	1	355	0.0028	197	c.236 others(216): Show c.2363-1360_2363-1359insGGGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGGCCCAGCC	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DPEP1_chr16_89608642_89643433	89634738	C C	CCTTCCTT others(190): Show CCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCTTCCTTCTCCTTTCCCTTCTTCCCTTTCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCCCCGTTCCCGTCCTTCCCTTCCCTTCCTTCCCCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	248	0.0040	197	c.105 others(214): Show c.105-1169_105-1168insTTCCTTCTCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCTTCCTTCTCCTTTCCCT TCTTCCCTTTCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCCGTTCCCGTCCTTCCC TTCCCTTCCTTCCCCTTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DVL1_chr1_1330278_1354418	1350441	C C	CGGGCAGG others(190): Show CGGGCAGGAGCGACGGGGGGAGTGAGGGGGCCTGGACCGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGTCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGTCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	313	0.0032	197	c.-13 others(208): Show c.-1377_-1376insCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTC CAGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCGTC CAGGACCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGACCCCT CCTCACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCCCTCACTCCCCCC GTCGCTCCTGCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1024		chr1	TogoVar
DYNC1LI1_chr3_32520974_32575858	32538048	A A	AATTATAT others(190): Show AATTATATATATAATATATATATAATTTATATATATAATATATATATAAT TTATATATATAATTATATATATAATTTATATATATAATATATATAATTTA TATATATAATTTATATATATAATTATATATATAATATATATATATAATTT ATATATATTATATATATAATTTATATATATAATATATATATATAAAAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	19	0.0526	197	c.739 others(212): Show c.739-945_739-944insATTTTATATATATATATTATATATATAAAT TATATATATAATATATATAAATTATATATATATATTATATATATAATTAT ATATATAAATTATATATATAAATTATATATATTATATATATAAATTATAT ATATAATTATATATATAAATTATATATATATTATATATATAAATTATATA TATATTATATATATAAT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32538048	A A	ATTTATAT others(190): Show ATTTATATATATAATATATATATAAATTATATATATAATATATATATAAT TTATATATATAATATATATATAATTTATATATATAATTATATATATAATT TATATATATAATATATATAATTTATATATATAATTTATATATATAATTAT ATATATAATATATATATAATTTATATATATAATATATATATATAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	19	0.0526	197	c.739 others(212): Show c.739-945_739-944insATTTTATATATATATATTATATATATAAAT TATATATATATTATATATATAATTATATATATAAATTATATATATAAATT ATATATATTATATATATAAATTATATATATAATTATATATATAAATTATA TATATATTATATATATAAATTATATATATATTATATATATAATTTATATA TATATTATATATATAAA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
ELOVL6_chr4_110040846_110203615	110084188	T T	TATATGTG others(190): Show TATATGTGATATATATGATATATAACATATATGTGATATATATGATATAT AACATATATGTGATATATATGATATATATAACATATATGTGATATACGAT ATATATAACATATATGTGATATATGATATATATAACATATATGTGATAAT GTTATATATGATATGTATAACATATATGTGATATATGATATATAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	317	0.0032	197	c.221 others(216): Show c.221+21308_221+21309insGTTTTATATATCATATATCACATATA TGTTATACATATCATATATAACATTATCACATATATGTTATATATATCAT ATATCACATATATGTTATATATATCGTATATCACATATATGTTATATATA TCATATATATCACATATATGTTATATATCATATATATCACATATATGTTA TATATCATATATATCACATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084213	T T	TATATGTG others(190): Show TATATGTGATATATATGATATATAACATATATGTGATATATATGATATAT ATAACATATATGTTATATATATGATATATATAACATATATGTGATATACG ATATATATAACATATATGTGATATACGATATATATAACATATATGTGATA ATGTTATATATGATATGTATAATATATGTGATATATGATATATAAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0329 a0001c0001t0034g0329	1	335	0.0030	197	c.221 others(216): Show c.221+21283_221+21284insGTTTTATATATCATATATCACATATA TTATACATATCATATATAACATTATCACATATATGTTATATATATCGTAT ATCACATATATGTTATATATATCGTATATCACATATATGTTATATATATC ATATATATAACATATATGTTATATATATCATATATATCACATATATGTTA TATATCATATATATCACATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
FAM120B_chr6_170301758_170412067	170399854	A A	ACTCTTAG others(190): Show ACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAA GGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTAT GTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG03540.hp1 others(2): Show HG00735.hp2 HG01496.hp1 HG03540.hp1 HG03927.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0005g0206 others(2): Show a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0005g0206 a0001c0001t0005g0222 a0001c0001t0006g0171	5	257	0.0195	197	c.269 others(216): Show c.2692+4277_2692+4278insCTTAGGAGTGAGTGGGGAAGGTAGAA CTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAA GCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGT GAGTGGGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAG GTAGAACTATGTCATAACCCT	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar

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