Joint Open Genome and Omics Platform (JoGo)

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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
WDR81_chr17_1719704_1743585	1740324	A A	AGCCGGAC others(173): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAG TGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0059 a0003c0004t0003g0059	1	431	0.0023	180	c.26 others(191): Show c.2639_*2640insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1740		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740348	A A	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA19085.hp1 NA18964.hp1 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0004 a0002c0001t0002g0019 a0002c0001t0002g0004 a0002c0001t0002g0019	2	431	0.0046	180	c.26 others(191): Show c.2663_*2664insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1764		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740909	C C	CGCAGGAC others(173): Show CGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	431	0.0023	180	c.32 others(191): Show c.3224_*3225insGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		2325		chr17	TogoVar
WDR81_chr17_1719704_1743585	1741730	G G	GAGGGTGG others(173): Show GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0003 a0001c0069t0003	a0001c0069t0003g0002 a0001c0069t0003g0002	1	431	0.0023	180	c.40 others(191): Show c.4045_*4046insAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		3146		chr17	TogoVar
WDR86_chr7_151376124_151415038	151397627	G G	GTAGCGGG others(173): Show GTAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAG AGGGTGTAGCAGGAGGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGAGG AAGAGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGTG GGAGGAAGAGGGTGTAGCAGGAGGAAGGGCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(84): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01261.hp2 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0001c0017 a0002c0007 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0003t0002 a0001c0003t0006 a0001c0006t0001 a0001c0006t0003 a0001c0010t0002 a0001c0011t0001 a0001c0013t0002 a0001c0017t0002 a0002c0007t0001 a0002c0007t0003 a0004c0014t0002	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0003g0029 others(79): Show a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0003g0029 a0001c0001t0003g0069 a0001c0001t0004g0251 a0001c0001t0004g0256 a0001c0002t0003g0063 a0001c0003t0002g0006 a0001c0003t0002g0008 a0001c0003t0002g0012 a0001c0003t0002g0020 a0001c0003t0002g0077 a0001c0003t0002g0087 a0001c0003t0002g0091 a0001c0003t0002g0101 a0001c0003t0002g0111 a0001c0003t0002g0131 a0001c0003t0002g0151 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0166 a0001c0003t0002g0168 a0001c0003t0002g0193 a0001c0003t0002g0259 a0001c0003t0002g0260 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0274 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0280 a0001c0003t0002g0285 a0001c0003t0002g0321 a0001c0003t0002g0333 a0001c0003t0002g0335 a0001c0003t0002g0336 a0001c0003t0002g0337 a0001c0003t0002g0340 a0001c0003t0002g0345 a0001c0003t0002g0366 a0001c0003t0002g0367 a0001c0003t0002g0376 a0001c0003t0002g0381 a0001c0003t0002g0383 a0001c0003t0002g0392 a0001c0003t0002g0394 a0001c0003t0002g0396 a0001c0003t0002g0397 a0001c0003t0002g0401 a0001c0003t0002g0404 a0001c0003t0002g0417 a0001c0003t0002g0420 a0001c0003t0006g0055 a0001c0003t0006g0056 a0001c0003t0006g0062 a0001c0006t0001g0102 a0001c0006t0001g0133 a0001c0006t0001g0134 a0001c0006t0001g0150 a0001c0006t0001g0153 a0001c0006t0001g0155 a0001c0006t0001g0167 a0001c0006t0001g0177 a0001c0006t0001g0192 a0001c0006t0001g0264 a0001c0006t0001g0368 a0001c0006t0001g0421 a0001c0006t0003g0053 a0001c0010t0002g0013 a0001c0010t0002g0199 a0001c0011t0001g0188 a0001c0013t0002g0084 a0001c0013t0002g0327 a0001c0017t0002g0374 a0002c0007t0001g0304 a0002c0007t0003g0045 a0002c0007t0003g0047 a0004c0014t0002g0320 a0004c0014t0002g0347	87	458	0.1900	180	c.306 others(197): Show c.306-1432_306-1431insTGCCCTTCCTCCTGCTACACCCTCTTCC TCCCACTACACCCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTATGCT CTTCCTCCCGCTATGCCCTTCCTCCCGCTATGCCCTTCCTCCTGCTACAC CCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTATGCCCTTCCTCCCGC TA	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
WDR86_chr7_151376124_151415038	151397648	C C	CGGGAGGA others(173): Show CGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCAGGAGGAAGGG CATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCATAGCGGGAGGAAGA GGGTGTAGCGGGAGGAAGAGGGTGTAGTGGGAGGAAGAGGGTGTAGCAGG AGGAAGGGCATAGCGGGAGGAAGGGCATAGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0412 a0001c0001t0001g0412	1	458	0.0022	180	c.306 others(197): Show c.306-1453_306-1452insACTATGCCCTTCCTCCCGCTATGCCCTT CCTCCTGCTACACCCTCTTCCTCCCACTACACCCTCTTCCTCCCGCTACA CCCTCTTCCTCCCGCTATGCTCTTCCTCCCGCTATGCCCTTCCTCCCGCT ATGCCCTTCCTCCTGCTACACCCTCTTCCTCCCGCTACACCCTCTTCCTC CC	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
WDR87_chr19_37879823_37911594	37880989	A A	ATATATAT others(173): Show ATATATATAATATATAATATATAATATATATATATAATATATATATATAT AATATATATAATATAATATATATATATATAATATATATATATATTATATA TATATAATATATATATTAATATATATTATATATATATAATATATATTATA TATATATAATATATATAATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	330	0.0030	180	c.39 others(191): Show c.3942_*3943insAATATATATATTATTATATATATTATATATATAT AATATATATTATATATATATAATATATATTAATATATATATTATATATAT ATAATATATATATATATTATATATATATATATTATATTATATATATTATA TATATATATATTATATATATATATTATATATTATATATTATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3833		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881016	A A	ATATATAT others(173): Show ATATATATAATATATATAATATATATATAATATATATATATAATATATAT ATTATATATATATAATATATATAATATATATATAATATATATATATATAT ATTATATATATTATATATATTATATATATATTATATATATTATATATATA ATATATATAATATATATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0025 a0025	a0025c0042 a0025c0042	a0025c0042t0001 a0025c0042t0001	a0025c0042t0001g0128 a0025c0042t0001g0128	1	330	0.0030	180	c.39 others(191): Show c.3915_*3916insAATATATATATTATATATATATTATATATATTAT ATATATAATATATATAATATATATATAATATATATAATATATATAATATA TATATATATATATTATATATATATTATATATATTATATATATATAATATA TATATTATATATATATATTATATATATATTATATATATTATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3806		chr19	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(173): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp2 others(17): Show HG00099.hp1 HG00639.hp2 HG00735.hp2 HG01496.hp1 HG01884.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02630.hp2 HG02895.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG06807.hp1 NA18993.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 a0001c0001t0029 a0001c0001t0032 a0001c0002t0002	a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0104 others(17): Show a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0166 a0001c0001t0001g0203 a0001c0001t0003g0018 a0001c0001t0003g0339 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0026g0028 a0001c0001t0029g0340 a0001c0001t0032g0018 a0001c0002t0002g0301	20	388	0.0516	180	c.-24 others(197): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA AT	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZCCHC24_chr10_79377325_79450624	79428391	T T	TATTTCAG others(173): Show TATTTCAGTTTTGCAAGATAAATTTCAGTTTTGCAAGATAAATTTCAGTT TTGCAAGATAAATTTCAGTTTTGCAAGATAAATTTCAGTTTTGCAAGATA AATTTCAGTTTTGCAAGATAAATTTCAGTTTTGCAAGATAAATTTCAGTT TTGCAAGATAAATTTCAGTTTTGCAAGATAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0346 a0001c0001t0002g0346	1	382	0.0026	180	c.447 others(197): Show c.447+4166_447+4167insTTATCTTGCAAAACTGAAATTTATCTTG CAAAACTGAAATTTATCTTGCAAAACTGAAATTTATCTTGCAAAACTGAA ATTTATCTTGCAAAACTGAAATTTATCTTGCAAAACTGAAATTTATCTTG CAAAACTGAAATTTATCTTGCAAAACTGAAATTTATCTTGCAAAACTGAA AT	ZCCHC24	ENSG00000165424.7	transcript	ENST00000372336.4	protein_coding	2/3			chr10	TogoVar
ZMAT4_chr8_40525590_40902826	40792639	A A	AAGGGGAG others(173): Show AAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGA GAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAG GAGGAGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGA GAGGGGAGGGGAGGGGAGGGGAGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	228	0.0044	180	c.103 others(199): Show c.103-24910_103-24909insCTCCTCCTCTCCCCTCCCCTCCCCTC CCCTCTCCTCCCCTCCCCTCTCCTCCTCTACCCTCTCCTCCTCTACCCTC TCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTC CCCTCTCCTCCTCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTC CCCT	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF470_chr19_56562468_56587894	56572389	T T	TATATATG others(173): Show TATATATGTATATATATATATACACATATATATATATGTATATATATATA TACATATATATATGTATATATATATATACACACATATATATATGTGTATA TATATATATACACACACATATATATATATATATATATATATATATATATA TATATATATATATACACACATATATATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0111 a0002c0003t0010g0111	1	420	0.0024	180	c.61- others(195): Show c.61-2004_61-2003insTATATGTATATATATATATACACATATATA TATATGTATATATATATATACATATATATATGTATATATATATATACACA CATATATATATGTGTATATATATATATACACACACATATATATATATATA TATATATATATATATATATATATATATATATACACACATATATATATAAA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319325	T T	TATATATA others(173): Show TATATATACATATATACACATACATACATATATACATATATATACACATA CATACATATATATACATATATATACACATACATACATATATATACATATA TATACACATACATATATATACATATATATACACATACATACATATATATA CATATATATACACATACATACATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01071.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0018 a0002c0002 a0011c0018	a0002c0002t0002 a0011c0018t0002 a0002c0002t0002 a0011c0018t0002	a0002c0002t0002g0014 a0011c0018t0002g0001 a0002c0002t0002g0014 a0011c0018t0002g0001	3	460	0.0065	180	c.-15 others(191): Show c.-1529_-1528insATATATACATATATACACATACATACATATATAC ATATATATACACATACATACATATATATACATATATATACACATACATAC ATATATATACATATATATACACATACATATATATACATATATATACACAT ACATACATATATATACATATATATACACATACATACATATATATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1146		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319427	C C	CATACATA others(173): Show CATACATATATATACATATATATACATATATACATATACATACATATATA TACATATATATACACATACATACATATATATACATATATATACACATACA TACATATATATACATATACACATATATACATATATACATATACATACATA TATATACATATATACATATACATACATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0018 a0004c0004t0003g0018	1	460	0.0022	180	c.-14 others(191): Show c.-1427_-1426insATACATATATATACATATATATACATATATACAT ATACATACATATATATACATATATATACACATACATACATATATATACAT ATATATACACATACATACATATATATACATATACACATATATACATATAT ACATATACATACATATATATACATATATACATATACATACATATAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1044		chr19	TogoVar
ZNF644_chr1_90910304_91027035	90950277	A A	AAGGGGAG others(173): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	314	0.0032	180	c.45- others(195): Show c.45-8969_45-8968insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGGAG others(173): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0303 a0001c0001t0006g0303	1	314	0.0032	180	c.45- others(195): Show c.45-8999_45-8998insTTTCTTTTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF683_chr1_26356634_26377750	26369683	A A	AGCTGAGT others(173): Show AGCTGAGTGTGGTGGCTCACGCCTATAGTCCCAGCTACTAGGGAGGCTGA GGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGA TAGCACCACTGCATTCTAGCCTGGGTGACAGAGCAAGACTTTGTCTCCAA AAAAAAAAAAAAAAGAAAGAAAAAAAAATTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0069 a0005c0006t0001g0069	1	406	0.0025	180	c.-14 others(197): Show c.-14-1099_-14-1098insAAATTTTTTTTTCTTTCTTTTTTTTTTT TTTTTGGAGACAAAGTCTTGCTCTGTCACCCAGGCTAGAATGCAGTGGTG CTATCTTGGCTCACTGCAACCTCTGCCTCCTGGATTCAAGCGATTCTCCT GCCTCAGCCTCCCTAGTAGCTGGGACTATAGGCGTGAGCCACCACACTCA GC	ZNF683	ENSG00000176083.18	transcript	ENST00000349618.8	protein_coding	1/5			chr1	TogoVar
ZNF683_chr1_26356634_26377750	26369683	A A	AGCTGAGT others(173): Show AGCTGAGTGTGGTGGCTCACGCCTATAGTCCCAGCTACTAGGGAGGCTGA GGCAGGAGAATCGCTTGAATCCGGGAGGCAGAGGTTGCAGTGAGCCAAGA TAGCACCACTGCATTCTAGCCTGGGTGACAGAGCAAGACTTTGTCTCCAA AAAAAAAAAAAAAAGAAAGAAAAAAAAATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02145.hp1 others(12): Show HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03486.hp1 HG03486.hp2 NA18906.hp1 NA19030.hp2 NA19072.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0013	a0002c0007 a0004c0004 a0005c0006 others(1): Show a0002c0007 a0004c0004 a0005c0006 a0013c0012	a0002c0007t0001 a0004c0004t0001 a0005c0006t0001 others(1): Show a0002c0007t0001 a0004c0004t0001 a0005c0006t0001 a0013c0012t0001	a0002c0007t0001g0015 a0002c0007t0001g0072 a0002c0007t0001g0073 others(8): Show a0002c0007t0001g0015 a0002c0007t0001g0072 a0002c0007t0001g0073 a0004c0004t0001g0064 a0004c0004t0001g0111 a0005c0006t0001g0030 a0005c0006t0001g0063 a0005c0006t0001g0066 a0005c0006t0001g0067 a0005c0006t0001g0068 a0013c0012t0001g0065	15	406	0.0370	180	c.-14 others(197): Show c.-14-1099_-14-1098insAAATTTTTTTTTCTTTCTTTTTTTTTTT TTTTTGGAGACAAAGTCTTGCTCTGTCACCCAGGCTAGAATGCAGTGGTG CTATCTTGGCTCACTGCAACCTCTGCCTCCCGGATTCAAGCGATTCTCCT GCCTCAGCCTCCCTAGTAGCTGGGACTATAGGCGTGAGCCACCACACTCA GC	ZNF683	ENSG00000176083.18	transcript	ENST00000349618.8	protein_coding	1/5			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45044764	T T	TATAAATA others(173): Show TATAAATATATATATATAAATATATATATATAAATATATATATAAATATA TATATATAAATATATATATATAAATATATATATAAATATATATATATAAA TATATATATATAAATATATATATATAAATATATATATAAATATATATATA TAAATATATATATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	234	0.0043	180	c.143 others(199): Show c.1433-1370_1433-1369insTTATATATATATATTTATATATATAT ATTTATATATATATATTTATATATATATTTATATATATATATTTATATAT ATATATTTATATATATATATTTATATATATATTTATATATATATATTTAT ATATATATATTTATATATATATTTATATATATATATTTATATATATATAT TTAT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
AADAC_chr3_151809116_151833488	151820690	T T	TTTTTTTT others(174): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG01361.hp2 others(3): Show HG01175.hp2 HG01256.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0091	6	440	0.0136	181	c.431 others(196): Show c.431+239_431+240insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG T	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCC2_chr10_99777640_99857594	99839132	C C	CGGGGGGC others(174): Show CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	336	0.0030	181	c.361 others(200): Show c.3615-2786_3615-2785insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACOT11_chr1_54543228_54615329	54561778	G G	GGGGGCTG others(174): Show GGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCAC CTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGTGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	388	0.0026	181	c.33+ others(198): Show c.33+13445_33+13446insACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCT GAC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561786	A A	ACACCCCC others(174): Show ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGA CGGGGCAGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGAGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0272 a0001c0013t0001g0272	1	388	0.0026	181	c.33+ others(198): Show c.33+13445_33+13446insACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTG ACC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACSL3_chr2_222856036_222949639	222915319	C C	CTTAAATG others(174): Show CTTAAATGCGTAATTGCATGGGACACTAGATGGCAGCATTTATCCTTTTC CGTTTTTATCCAACCTCTTCTAGAAATTTCTTAAATGTTTACATTTATAA AATGAACATGGTCAGATGATTTTAAGGTGTTTGAGATGTATATTACTGAC ACAGCCATGTTTGGGAATTAATTACCTATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	252	0.0040	181	c.379 others(196): Show c.379-997_379-817dupAAATGCGTAATTGCATGGGACACTAGATGG CAGCATTTATCCTTTTCCGTTTTTATCCAACCTCTTCTAGAAATTTCTTA AATGTTTACATTTATAAAATGAACATGGTCAGATGATTTTAAGGTGTTTG AGATGTATATTACTGACACAGCCATGTTTGGGAATTAATTACCTATATAT T	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS2_chr5_179105853_179350461	179135028	A A	AGCTCCAG others(174): Show AGCTCCAGCCCCCAGCTCCGAGCCTCTAGCCCCCAGCTCCCGGCTCCAGC CCCCAGCTCCCGGCTCCAGCTCCCAGCTCCCGGCTCCAGCCCCCAGCTCC CGGCTCCAGCTCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCC CCCAGCTCCGAGCCTCTAGCCCCCAGCTCCCG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19070.hp1 NA18977.hp1 NA19070.hp1	a0003 a0006 a0003 a0006	a0003c0023 a0006c0091 a0003c0023 a0006c0091	a0003c0023t0002 a0006c0091t0002 a0003c0023t0002 a0006c0091t0002	a0003c0023t0002g0151 a0006c0091t0002g0218 a0003c0023t0002g0151 a0006c0091t0002g0218	2	276	0.0073	181	c.208 others(198): Show c.2085+880_2085+881insCGGGAGCTGGGGGCTAGAGGCTCGGAGC TGGGGGCTGGAGCCGGGAGCTGGGGGCTGGAGCCGGGAGCTGGAGCTGGA GCCGGGAGCTGGGGGCTGGAGCCGGGAGCTGGGAGCTGGAGCCGGGAGCT GGGGGCTGGAGCCGGGAGCTGGGGGCTAGAGGCTCGGAGCTGGGGGCTGG AGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
ADGRG6_chr6_142297007_142451261	142318118	T T	TTTATATT others(174): Show TTTATATTTATATATTATATATTTAATATATATTTATATATTATATATTT ATATAATATATATTTATATATTATATATTTATATAATATATATTTATATA TTATATATTTATATAATATATATTTATATATTATATATTTATATAATATA TATTTATATATTATATATTTATATAATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	260	0.0039	181	c.103 others(198): Show c.103+8475_103+8476insTATATTTATATATTATATATTTAATATA TATTTATATATTATATATTTATATAATATATATTTATATATTATATATTT ATATAATATATATTTATATATTATATATTTATATAATATATATTTATATA TTATATATTTATATAATATATATTTATATATTATATATTTATATAATATA TAT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
AGMO_chr7_15195317_15567015	15530098	G G	GATATTCT others(174): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATATTCTATATACGTATTTCCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	236	0.0042	181	c.409 others(200): Show c.409+14673_409+14674insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATTAT others(174): Show TATATTATATGTTATATATATTATATATAATATGTTATATATATTATATA TAACATGTTATATATAATATATATGTTATATATTATATATAATATATGTT ATATATATTATATATAATATATGTTATATATAATATATATAACATATGTT ATATATAATATATATAATATATATGATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01496.hp2 HG01978.hp1 others(12): Show HG00099.hp2 HG01496.hp2 HG01978.hp1 HG03942.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18973.hp2 NA18982.hp1 NA18988.hp2 NA19009.hp1 NA19066.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0002c0002t0002 a0002c0002t0011	a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0069 others(12): Show a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0004g0044 a0001c0001t0004g0195 a0001c0003t0004g0248 a0001c0003t0004g0253 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0011g0101	15	284	0.0528	181	c.891 others(200): Show c.891+27340_891+27341insTATATGTTATATATATTATATATAAT ATGTTATATATATTATATATAACATGTTATATATAATATATATGTTATAT ATTATATATAATATATGTTATATATATTATATATAATATATGTTATATAT AATATATATAACATATGTTATATATAATATATATAATATATATGATATAT AATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATTAT others(174): Show TATATTATATGTTATATATATTATATATAATATGTTATATATATTATATA TAACATGTTATATATAATATATATGTTATATATTATATATAATATATGTT ATATATATTATATATAATATATGTTATATATAATATATATAACATATGTT ATATATCATATATATAATATATATGATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18965.hp1 NA18955.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0115 a0001c0001t0001g0122	2	284	0.0070	181	c.891 others(200): Show c.891+27340_891+27341insTATATGTTATATATATTATATATAAT ATGTTATATATATTATATATAACATGTTATATATAATATATATGTTATAT ATTATATATAATATATGTTATATATATTATATATAATATATGTTATATAT AATATATATAACATATGTTATATATCATATATATAATATATATGATATAT AATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATTAT others(174): Show TATATTATATGTTATATATATTATATATAATATGTTATATATATTATATA TAACATGTTATATATAATATATATGTTATATATTATATATAATATATGTT ATATATATTATATATCATATATGTTATATATAATATATATAACATATGTT ATATATAATATATATAATATATATGATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	284	0.0035	181	c.891 others(200): Show c.891+27340_891+27341insTATATGTTATATATATTATATATAAT ATGTTATATATATTATATATAACATGTTATATATAATATATATGTTATAT ATTATATATAATATATGTTATATATATTATATATCATATATGTTATATAT AATATATATAACATATGTTATATATAATATATATAATATATATGATATAT AATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
APOA4_chr11_116815700_116828304	116818426	A A	ATATATAT others(174): Show ATATATATATGAATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATGAATATATATATGAATTATATATGAATATATATATG AATATATATATGAATATATATGAATATATATATGAATTATATATGAATAT ATATATGAATATATATGAATATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03704.hp2 HG03834.hp2 others(4): Show HG01109.hp1 HG03704.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18967.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0018 others(1): Show a0001c0001 a0001c0005 a0001c0018 a0001c0023	a0001c0001t0001 a0001c0005t0001 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0018t0001 a0001c0023t0001	a0001c0001t0001g0007 a0001c0005t0001g0006 a0001c0018t0001g0021 others(1): Show a0001c0001t0001g0007 a0001c0005t0001g0006 a0001c0018t0001g0021 a0001c0023t0001g0037	7	462	0.0152	181	c.24 others(192): Show c.2440_*2441insATTCATATATATATTCATATATATTCATATATAT ATTCATATATAATTCATATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATAATTCATATATATATTCATATATATTCATATAT ATATTCATATATATTCATATATATATTCATATATATTCATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2273		chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1824895	A A	ACTCCACC others(174): Show ACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCT GCACCCCACCTGTCCCTCCGCACCCCACCTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0016 a0001c0020t0016	a0001c0020t0016g0092 a0001c0020t0016g0092	1	363	0.0028	181	c.-48 others(196): Show c.-48+783_-48+784insTCCACCTGTCCCCCCGCACTCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT C	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(174): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTCCCCCTCCCTCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03098.hp1 HG02280.hp2 HG02965.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0256 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0256	3	264	0.0114	181	c.102 others(198): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCTCCCTCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198330	G G	GGGGAGGG others(174): Show GGGGAGGGGGACGGGAGGGGAGGGGGAGGGGAGGGGGACGGGAGGGGGAC GGGGAGGGGACGGGGAGGGGACGGGGAGGGGACGGGGAGGGGACAGGGAG GGGAGGGGAGGGGGAGGGGACGGGGAGGGGACGGGAGGGGAGGGGGACGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGAGAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0192 a0002c0002t0001g0180 a0002c0002t0001g0192	2	216	0.0093	181	c.311 others(198): Show c.311-1342_311-1341insATCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCGTCCCCCTCCCCTCCCGTCCCCTCCCCGTCCCCTCCCCCTCCCC TCCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGTCCCCTCCCCGTCCCCT CCCCGTCCCCCTCCCGTCCCCCTCCCCTCCCCCTCCCCTCCCGTCCCCCT CCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(174): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GAGGGGGAGGGGCGAGGGAGGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	432	0.0023	181	c.124 others(198): Show c.124+2040_124+2041insTCCCTCCCTCCCCTCCCTCGCCCCTCCC CCTCCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTC CTCCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCT CCCCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCC CTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(174): Show GGAGGGGAGGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGC AGGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGGAGGA GAGGAGGAAGGGAGAGGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGA GGGGAGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	432	0.0023	181	c.124 others(198): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCCTCTCCCTTCCT CCTCTCCTCCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTC CCCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCCTCCC CTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(174): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCTCCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG03209.hp1 others(5): Show HG02257.hp2 HG02965.hp2 HG03209.hp1 HG06807.hp1 NA18522.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0003 a0002c0002 a0002c0004 a0003c0003	a0002c0002t0008 a0002c0004t0006 a0003c0003t0001 others(1): Show a0002c0002t0008 a0002c0004t0006 a0003c0003t0001 a0003c0003t0006	a0002c0002t0008g0311 a0002c0004t0006g0038 a0003c0003t0001g0098 others(2): Show a0002c0002t0008g0311 a0002c0004t0006g0038 a0003c0003t0001g0098 a0003c0003t0006g0007 a0003c0003t0006g0097	8	378	0.0212	181	c.960 others(198): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCTCCCCCTCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTC CCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707401	T T	TATAATAT others(174): Show TATAATATATATTATATTATATATAATATAATATATAATAATATATATAA TATAATATATTATATATTATATTATATATATTATATAATATATTATATTA TATATATTATATAATATATTATATTATATTATATATATTATATAATATAT TATATTATATATATTATTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 HG03453.hp2 HG03579.hp1	a0002 a0003 a0002 a0003	a0002c0049 a0003c0031 a0002c0049 a0003c0031	a0002c0049t0006 a0003c0031t0006 a0002c0049t0006 a0003c0031t0006	a0002c0049t0006g0044 a0003c0031t0006g0344 a0002c0049t0006g0044 a0003c0031t0006g0344	2	376	0.0053	181	c.243 others(198): Show c.2430-685_2430-684insTATATTATATATATAATAATATATATAA TATAATATATTATATAATATATATAATATAATATAATATATTATATAATA TATATAATATAATATATTATATAATATATATAATATAATATATAATATAT TATATTATATATATTATTATATATTATATTATATATAATATAATATATAT TAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25465681	T T	TTCTTTCT others(174): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTT TTCTTTCTCTTTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCT CCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTCTCTTTCTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0038 a0001c0009t0038	a0001c0009t0038g0112 a0001c0009t0038g0112	1	122	0.0082	181	c.77- others(196): Show c.77-3267_77-3266insTCTTTCTTTCTTTCTTTCTTTTCTTTCTCT TTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCC CTCCCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTCTC TTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(174): Show TTATATATATTATATATATATTTATATATATATAATATATATATTTTTAT ATATATATATTATATATATATTTATATATATATATTATATATATATTTAT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	216	0.0046	181	c.-2- others(198): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATAAATATATATATAATATATATATATATAAATATATATAATATATATAT ATATATAAATATATATATAATATATATATATAAATATATATATAATATAT ATATATAAAAATATATATATTATATATATATAAATATATATATAATATAT ATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCHE_chr3_165767904_165842423	165797259	T T	TCCCCCCC others(174): Show TCCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCC CCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCC CTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTC CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	304	0.0033	181	c.151 others(202): Show c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA GGGGGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCHE_chr3_165767904_165842423	165797259	T T	TCCCCCCT others(174): Show TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC CCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCC CTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTC CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	304	0.0033	181	c.151 others(202): Show c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGG AGGGGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCL11A_chr2_60452194_60558654	60468017	G G	GTGATGGT others(174): Show GTGATGGTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGT GATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGA TGGTGCTGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTAGTGATAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0202 a0001c0001t0055g0202	1	262	0.0038	181	c.487 others(196): Show c.487+714_487+715insTTATCACTACCACCACCACCACCACCACCA CCATCACCACCACCATCACCATCACCACAAAGTACCATGACCACCAGCAC CATCACTACCACCACCACCACCATCACCACCACCACCATTACCACCACCA TCACTACCACCACCACCATCACCACCAGTACCATCACCACCACCACCATC A	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BSG_chr19_567596_588493	570679	G G	GGGTGGAA others(174): Show GGGTGGAAGCGGCGGAGGGGTGGGTGGGGGAGGGGCGGGTGGAAGGGGCG GGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGTGGGAGGGGTGGGTGGGGG AGGGGCGGAGGGGTGGGGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTGG GTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	306	0.0033	181	c.-19 others(192): Show c.-1956_-1955insGGTGGAAGCGGCGGAGGGGTGGGTGGGGGAGGGG CGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGTGGG AGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGGAGGGGGCGGAGGGGTGG GTGGGGGAGGGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1916		chr19	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(174): Show TATATATATAATATATATTATATATAATATATATTATATATTATATAAAA TATATATCATATATAATATATAATATATATTATATAAAATATATATTATA TATAATATATAATATATATTATATAAAATATATATTATATATAATATATA ATATATATTATATATAATATATATTATATAAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19081.hp2 NA19064.hp2 NA19081.hp2	a0001 a0001	a0001c0008 a0001c0014 a0001c0008 a0001c0014	a0001c0008t0003 a0001c0014t0001 a0001c0008t0003 a0001c0014t0001	a0001c0008t0003g0124 a0001c0014t0001g0123 a0001c0008t0003g0124 a0001c0014t0001g0123	2	218	0.0092	181	c.314 others(200): Show c.314-50897_314-50896insTTTATATAATATATATTATATATAAT ATATATTATATATTATATATAATATATATTTTATATAATATATATTATAT ATTATATATAATATATATTTTATATAATATATATTATATATTATATATGA TATATATTTTATATAATATATAATATATATTATATATAATATATATTATA TATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61680478	A A	ATATATAT others(174): Show ATATATATAACATATTATATGTTATATTATGTTATATATAACATATAATA TGTTATGTTATATATAACATATTATATGTTATATTATGTTATATATAACA TATTATATGTTATATTATGTTATATATAACATATTATATGTTATATTATG TTATATATAACATATTATATGTTATATTATGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01106.hp2 others(9): Show HG00423.hp2 HG00558.hp1 HG01106.hp2 HG01123.hp1 HG01975.hp2 HG02040.hp2 HG02083.hp1 HG02135.hp2 HG02683.hp2 HG02895.hp2 NA18944.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302	12	374	0.0321	181	c.165 others(196): Show c.165-620_165-619insAATATGTTATGTTATATATAACATATTATA TGTTATATTATGTTATATATAACATATTATATGTTATATTATGTTATATA TAACATATTATATGTTATATTATGTTATATATAACATATTATATGTTATA TTATGTTATATATAACATATTATATGTTATATTATGTTATATATAACATA T	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(174): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTC TCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	218	0.0046	181	c.573 others(200): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221234	C C	CTTTCTTT others(174): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTCTT TCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTTC TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18955.hp1 NA18747.hp2 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0010t0002 a0002c0002t0002 a0002c0010t0002	a0002c0002t0002g0095 a0002c0010t0002g0054 a0002c0002t0002g0095 a0002c0010t0002g0054	2	218	0.0092	181	c.573 others(200): Show c.5731+3432_5731+3433insAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138127006	C C	CCCCCGGC others(174): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGC CATGACACCGTGAGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0195 a0002c0004t0005g0195	1	248	0.0040	181	c.50 others(192): Show c.5007_*5008insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAG CAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2388		chr9	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(174): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	328	0.0031	181	c.100 others(200): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar

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