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
SCAMP2_chr15_74838730_74878365	74874661	A A	AAATATAT others(4): Show AAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	386	0.0026	11	c.-14 others(22): Show c.-1407_-1406insATATATATATT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18522.hp1 NA18954.hp1 HG02698.hp2 NA18522.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0351 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0351	3	386	0.0078	11	c.-14 others(22): Show c.-1407_-1406insATATATATATA	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(4): Show ATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	11	c.35 others(22): Show c.3550_*3551insAAAAATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252723	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03098.hp2 HG03688.hp1 others(1): Show HG02630.hp1 HG03098.hp2 HG03688.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0018 a0001c0001t0001g0001 a0001c0002t0002g0018	4	375	0.0107	11	c.35 others(22): Show c.3549_*3550insTATATATATAT	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3257		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1928753	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01169.hp1 others(31): Show HG00099.hp1 HG01069.hp1 HG01169.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18944.hp1 NA18960.hp2 NA18997.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19065.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0004t0008 a0003c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0028 others(30): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0126 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0337 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0356 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0370 a0001c0001t0001g0376 a0001c0001t0001g0378 a0001c0001t0001g0385 a0001c0001t0001g0401 a0001c0001t0005g0012 a0001c0001t0005g0134 a0001c0001t0005g0151 a0001c0001t0005g0166 a0001c0001t0009g0120 a0001c0001t0016g0302 a0001c0001t0017g0066 a0001c0004t0008g0118 a0001c0004t0008g0119 a0003c0005t0001g0251	34	442	0.0769	11	c.44 others(22): Show c.4469_*4470insAAAAAAAAAAA	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding		2741		chr19	TogoVar
SCAND3_chr6_28565535_28592298	28591726	A A	AGTCTTCC others(4): Show AGTCTTCCAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	431	0.0023	11	c.-50 others(22): Show c.-5010_-5009insGATTGGAAGAC	SCAND3	ENSG00000232040.4	transcript	ENST00000452236.3	protein_coding		4429		chr6	TogoVar
SCAPER_chr15_76342904_76910340	76357189	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0308 a0002c0002t0002g0308	1	312	0.0032	11	c.385 others(30): Show c.3856-3050_3856-3049insTGTGTGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	29/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76431676	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp1 HG01433.hp2 others(19): Show HG01070.hp2 HG01175.hp1 HG01433.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02258.hp2 HG02647.hp1 HG02735.hp2 HG02895.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp1 NA18963.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18998.hp2 NA19068.hp1 NA19077.hp1 NA19085.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0023	a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 others(3): Show a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 a0002c0011t0002 a0002c0015t0002 a0002c0023t0002	a0001c0001t0001g0003 a0002c0002t0002g0226 a0002c0002t0002g0227 others(19): Show a0001c0001t0001g0003 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0258 a0002c0002t0002g0261 a0002c0002t0002g0276 a0002c0002t0002g0280 a0002c0002t0002g0293 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0309 a0002c0003t0002g0198 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0011t0002g0275 a0002c0011t0002g0285 a0002c0015t0002g0277 a0002c0023t0002g0229	22	312	0.0705	11	c.331 others(30): Show c.3311+2391_3311+2401dupTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76497109	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01258.hp2 others(11): Show HG00741.hp2 HG01123.hp2 HG01258.hp2 HG02486.hp2 HG02735.hp1 HG02735.hp2 HG03239.hp2 NA18965.hp1 NA18965.hp2 NA18993.hp2 NA19062.hp1 NA19063.hp2 NA19077.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0002c0002t0002 a0002c0011t0002 a0001c0001t0001 a0002c0002t0002 a0002c0011t0002	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0037 others(11): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0108 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0309 a0002c0011t0002g0225	14	312	0.0449	11	c.295 others(30): Show c.2954+7739_2954+7749dupAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76497124	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02109.hp2 HG02451.hp2 others(5): Show HG02027.hp2 HG02109.hp2 HG02451.hp2 HG02723.hp1 HG02896.hp1 HG03130.hp1 NA18972.hp1 NA19043.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0004 a0011c0019 a0001c0001 a0001c0004 a0011c0019	a0001c0001t0003 a0001c0004t0001 a0011c0019t0001 a0001c0001t0003 a0001c0004t0001 a0011c0019t0001	a0001c0001t0003g0120 a0001c0001t0003g0153 a0001c0004t0001g0128 others(5): Show a0001c0001t0003g0120 a0001c0001t0003g0153 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0132 a0011c0019t0001g0127	8	312	0.0256	11	c.295 others(30): Show c.2954+7734_2954+7735insGAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652273	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	312	0.0032	11	c.264 others(32): Show c.2645+13379_2645+13380insATATATTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652273	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	312	0.0032	11	c.264 others(32): Show c.2645+13379_2645+13380insATATATATTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652273	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	312	0.0032	11	c.264 others(32): Show c.2645+13379_2645+13380insATATATATATT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76813227	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19043.hp1 NA19064.hp1 HG03098.hp2 NA19043.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001	a0001c0001t0003g0117 a0001c0001t0004g0135 a0001c0004t0001g0161 a0001c0001t0003g0117 a0001c0001t0004g0135 a0001c0004t0001g0161	3	312	0.0096	11	c.394 others(28): Show c.394-8605_394-8595dupTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	5/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47414800	G G	GCACCCAA others(4): Show GCACCCAAGAGA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0137 a0004c0020t0001g0137	1	304	0.0033	11	c.330 others(26): Show c.3306+16_3306+26dupTCTCTTGGGTG	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	20/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417850	A A	AGAGGGGG others(4): Show AGAGGGGGCACG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0261 a0018c0023t0001g0261	1	304	0.0033	11	c.244 others(26): Show c.2448-35_2448-25dupCGTGCCCCCTC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27668546	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(78): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG04204.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19059.hp2 NA19062.hp1 NA19067.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0012t0005	a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 others(74): Show a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0369 a0001c0001t0003g0378 a0001c0001t0005g0044 a0001c0001t0005g0047 a0001c0001t0005g0054 a0001c0001t0005g0065 a0001c0001t0005g0093 a0001c0001t0005g0096 a0001c0001t0005g0353 a0001c0001t0007g0138 a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0007g0377 a0001c0001t0009g0056 a0001c0001t0009g0060 a0001c0001t0009g0062 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0015g0117 a0001c0001t0021g0009 a0001c0001t0021g0127 a0001c0001t0025g0210 a0001c0001t0035g0146 a0001c0001t0036g0134 a0001c0001t0037g0155 a0001c0001t0040g0120 a0001c0012t0005g0094	81	408	0.1985	11	c.137 others(30): Show c.1370-2348_1370-2338dupAAAAAAAAAAA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865787	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0034 a0003c0011t0034	a0003c0011t0034g0140 a0003c0011t0034g0140	1	314	0.0032	11	c.61 others(22): Show c.6146_*6147insATATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4095		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865788	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	314	0.0032	11	c.61 others(22): Show c.6145_*6146insTATATATATAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4094		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27936592	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00597.hp1 others(79): Show HG00140.hp1 HG00408.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01515.hp1 HG01975.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02523.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0012 a0016	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0026 a0002c0010 a0002c0013 a0002c0015 a0002c0017 a0007c0037 a0011c0038 a0012c0036 a0016c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0001c0001t0025 a0001c0001t0030 a0001c0001t0032 a0001c0001t0041 a0001c0001t0058 a0001c0002t0001 a0001c0002t0043 a0001c0003t0001 a0001c0003t0012 a0001c0003t0015 a0001c0004t0017 a0001c0005t0004 a0001c0005t0009 a0001c0005t0013 a0001c0005t0045 a0001c0005t0063 a0001c0009t0003 a0001c0009t0017 a0001c0009t0037 a0001c0026t0009 a0002c0010t0003 a0002c0013t0003 a0002c0015t0001 a0002c0017t0001 a0007c0037t0003 a0011c0038t0008 a0012c0036t0004 a0016c0031t0018	a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0170 others(79): Show a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0005g0174 a0001c0001t0005g0203 a0001c0001t0005g0217 a0001c0001t0005g0250 a0001c0001t0007g0055 a0001c0001t0007g0090 a0001c0001t0007g0094 a0001c0001t0008g0260 a0001c0001t0008g0294 a0001c0001t0010g0042 a0001c0001t0010g0064 a0001c0001t0010g0077 a0001c0001t0014g0151 a0001c0001t0021g0093 a0001c0001t0025g0189 a0001c0001t0030g0056 a0001c0001t0032g0118 a0001c0001t0041g0078 a0001c0001t0058g0143 a0001c0002t0001g0188 a0001c0002t0043g0102 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0262 a0001c0003t0012g0167 a0001c0003t0012g0254 a0001c0003t0015g0041 a0001c0003t0015g0047 a0001c0003t0015g0048 a0001c0004t0017g0145 a0001c0005t0004g0169 a0001c0005t0004g0226 a0001c0005t0004g0243 a0001c0005t0004g0244 a0001c0005t0004g0245 a0001c0005t0004g0296 a0001c0005t0009g0091 a0001c0005t0013g0155 a0001c0005t0045g0049 a0001c0005t0063g0312 a0001c0009t0003g0148 a0001c0009t0003g0240 a0001c0009t0003g0292 a0001c0009t0003g0293 a0001c0009t0003g0298 a0001c0009t0017g0142 a0001c0009t0037g0069 a0001c0026t0009g0080 a0002c0010t0003g0187 a0002c0010t0003g0282 a0002c0013t0003g0265 a0002c0013t0003g0274 a0002c0013t0003g0301 a0002c0015t0001g0281 a0002c0015t0001g0297 a0002c0017t0001g0303 a0007c0037t0003g0305 a0011c0038t0008g0306 a0012c0036t0004g0278 a0016c0031t0018g0186	82	314	0.2612	11	c.242 others(30): Show c.242-14358_242-14348dupTTTTTTTTTTT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124790009	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00597.hp2 others(67): Show HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG01070.hp1 HG01255.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02273.hp1 HG02451.hp2 HG02572.hp2 HG02723.hp2 HG02976.hp1 HG02976.hp2 HG03453.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19001.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19087.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0020 a0002c0006 a0004c0011 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0003t0010 a0001c0013t0016 a0001c0020t0006 a0002c0006t0006 a0004c0011t0002 a0008c0017t0001	a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0002g0065 others(67): Show a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0002g0065 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0157 a0001c0001t0002g0221 a0001c0001t0002g0235 a0001c0001t0002g0283 a0001c0001t0003g0232 a0001c0001t0005g0045 a0001c0001t0006g0118 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0008g0127 a0001c0001t0008g0233 a0001c0002t0002g0073 a0001c0002t0002g0088 a0001c0003t0001g0106 a0001c0003t0001g0215 a0001c0003t0001g0300 a0001c0003t0001g0311 a0001c0003t0002g0056 a0001c0003t0002g0069 a0001c0003t0002g0093 a0001c0003t0002g0095 a0001c0003t0002g0100 a0001c0003t0002g0103 a0001c0003t0002g0110 a0001c0003t0002g0129 a0001c0003t0002g0131 a0001c0003t0002g0160 a0001c0003t0002g0167 a0001c0003t0002g0173 a0001c0003t0002g0182 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0192 a0001c0003t0002g0212 a0001c0003t0002g0214 a0001c0003t0002g0231 a0001c0003t0002g0247 a0001c0003t0002g0261 a0001c0003t0002g0263 a0001c0003t0002g0264 a0001c0003t0002g0268 a0001c0003t0002g0273 a0001c0003t0002g0276 a0001c0003t0002g0280 a0001c0003t0002g0293 a0001c0003t0002g0303 a0001c0003t0002g0313 a0001c0003t0002g0315 a0001c0003t0002g0317 a0001c0003t0002g0319 a0001c0003t0004g0321 a0001c0003t0007g0082 a0001c0003t0007g0245 a0001c0003t0007g0274 a0001c0003t0010g0278 a0001c0003t0010g0288 a0001c0013t0016g0334 a0001c0020t0006g0339 a0002c0006t0006g0011 a0004c0011t0002g0210 a0008c0017t0001g0262	70	356	0.1966	11	c.120 others(30): Show c.1203-2563_1203-2553dupTTTTTTTTTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	9/12			chr12	TogoVar
SCD5_chr4_82624539_82803796	82670631	A A	AATAACAA others(4): Show AATAACAATTCC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	210	0.0048	11	c.569 others(30): Show c.569+10075_569+10076insGGAATTGTTAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82679220	A A	AAAGAAAG others(4): Show AAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02818.hp1 HG00280.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0156 a0001c0001t0019g0003 a0001c0001t0002g0156 a0001c0001t0019g0003	2	210	0.0095	11	c.569 others(28): Show c.569+1486_569+1487insCTCTCTTTCTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82720441	T T	TACAAAAA others(4): Show TACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03098.hp2 HG03130.hp1 others(3): Show HG02896.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0033	a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0003g0012 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0003g0012 a0001c0001t0003g0094 a0001c0001t0016g0192 a0001c0001t0033g0210	6	210	0.0286	11	c.233 others(30): Show c.233-15029_233-15028insTTTTTTTTTGT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82747069	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03688.hp1 HG04199.hp1 others(1): Show HG03209.hp1 HG03688.hp1 HG04199.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0015	a0001c0001t0001g0186 a0001c0001t0002g0166 a0001c0001t0013g0116 others(1): Show a0001c0001t0001g0186 a0001c0001t0002g0166 a0001c0001t0013g0116 a0001c0001t0015g0200	4	210	0.0191	11	c.233 others(30): Show c.233-41657_233-41656insGGGGGGGGGGG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82767099	T T	TTGGGAAA others(4): Show TTGGGAAACAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp1 NA18906.hp2 HG01891.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 a0001c0001t0001 a0001c0001t0008 a0001c0001t0023	a0001c0001t0001g0081 a0001c0001t0008g0197 a0001c0001t0023g0082 a0001c0001t0001g0081 a0001c0001t0008g0197 a0001c0001t0023g0082	3	210	0.0143	11	c.232 others(30): Show c.232+31206_232+31207insTCTGTTTCCCA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG01891.hp2 others(12): Show HG00741.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02886.hp1 HG03540.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18980.hp1 NA18981.hp2 NA18987.hp2 NA18997.hp1 NA19076.hp2 NA19079.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0004 a0002c0001 a0003c0003 others(1): Show a0001c0004 a0002c0001 a0003c0003 a0011c0019	a0001c0004t0001 a0001c0004t0002 a0002c0001t0001 others(2): Show a0001c0004t0001 a0001c0004t0002 a0002c0001t0001 a0003c0003t0001 a0011c0019t0001	a0001c0004t0001g0245 a0001c0004t0002g0121 a0002c0001t0001g0074 others(12): Show a0001c0004t0001g0245 a0001c0004t0002g0121 a0002c0001t0001g0074 a0002c0001t0001g0140 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0189 a0002c0001t0001g0263 a0002c0001t0001g0266 a0002c0001t0001g0329 a0002c0001t0001g0344 a0003c0003t0001g0047 a0003c0003t0001g0225 a0011c0019t0001g0248	15	356	0.0421	11	c.169 others(28): Show c.1692-923_1692-913dupAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53338575	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01169.hp1 others(11): Show HG00423.hp2 HG00642.hp1 HG01169.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG02004.hp1 HG02129.hp1 HG02717.hp2 NA18612.hp1 NA18998.hp2 NA19007.hp2 NA19060.hp1 NA19088.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0005c0011 a0005c0012 a0007c0013	a0001c0001t0002 a0001c0005t0001 a0001c0005t0004 others(5): Show a0001c0001t0002 a0001c0005t0001 a0001c0005t0004 a0001c0007t0003 a0002c0002t0001 a0005c0011t0003 a0005c0012t0001 a0007c0013t0001	a0001c0001t0002g0040 a0001c0005t0001g0026 a0001c0005t0001g0034 others(11): Show a0001c0001t0002g0040 a0001c0005t0001g0026 a0001c0005t0001g0034 a0001c0005t0001g0037 a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0005t0004g0030 a0001c0007t0003g0025 a0001c0007t0003g0027 a0001c0007t0003g0028 a0002c0002t0001g0032 a0005c0011t0003g0003 a0005c0012t0001g0004 a0007c0013t0001g0031	14	162	0.0864	11	c.100 others(32): Show c.1007+14012_1007+14022dupAAAAAAAAAAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	2/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53370409	C C	CCTTTTTT others(4): Show CCTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02602.hp1 HG03669.hp1 others(2): Show HG02129.hp1 HG02602.hp1 HG03669.hp1 NA18970.hp2 NA19091.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0012 a0001c0001 a0002c0002 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0005c0012t0001	a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0002g0059 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0002g0059 a0002c0002t0002g0058 a0005c0012t0001g0004	5	162	0.0309	11	c.-44 others(22): Show c.-4469_-4468insAAAAAAAAAAG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding		4349		chr4	TogoVar
SCG3_chr15_51676503_51726026	51709701	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	402	0.0025	11	c.120 others(30): Show c.1208-3631_1208-3630insATATTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32673563	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	415	0.0024	11	c.227 others(28): Show c.227-6203_227-6202insGTGTGTGTGTG	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5			chr15	TogoVar
SCG5_chr15_32636710_32702092	32701554	G G	GGCCTGCT others(4): Show GGCCTGCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01106.hp1 others(2): Show HG00280.hp1 HG00738.hp1 HG01106.hp1 HG01346.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0022	5	415	0.0121	11	c.49 others(22): Show c.4945_*4946insGCCTGCTCCCA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding		4463		chr15	TogoVar
SCGB1C1_chr11_188078_199575	191309	G G	GAAAAGCT others(4): Show GAAAAGCTATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	354	0.0028	11	c.-17 others(22): Show c.-1791_-1790insAAAAGCTATCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1768		chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62209678	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG03942.hp1 others(2): Show HG02071.hp1 HG02071.hp2 HG03942.hp1 HG03942.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0083 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0083 a0001c0001t0001g0129 a0001c0001t0001g0130	5	442	0.0113	11	c.56- others(24): Show c.56-735_56-734insGTGTGTGTGTG	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	1/2			chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213002	A A	ACAGCATA others(4): Show ACAGCATATATG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	442	0.0023	11	c.244 others(26): Show c.244-722_244-721insGCATATATGCA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00738.hp1 others(57): Show HG00323.hp1 HG00438.hp1 HG00738.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18948.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18973.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0219	60	442	0.1358	11	c.244 others(26): Show c.244-619_244-618insATATATATATT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(46): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG01070.hp2 HG01071.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp2 HG02738.hp2 HG03239.hp1 HG03239.hp2 NA18747.hp1 NA18945.hp2 NA18947.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18968.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18993.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp2 NA19070.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 others(21): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212	49	442	0.1109	11	c.244 others(26): Show c.244-619_244-618insATATATATTTT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00609.hp2 others(78): Show HG00140.hp2 HG00544.hp1 HG00609.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01255.hp2 HG01361.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18963.hp2 NA18968.hp1 NA18972.hp2 NA18983.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp2 NA19089.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0214	81	442	0.1833	11	c.244 others(26): Show c.244-619_244-618insATATATTTTTT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG01081.hp2 others(6): Show HG00423.hp1 HG00642.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG04115.hp2 NA18979.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0147 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0211	9	442	0.0204	11	c.244 others(26): Show c.244-619_244-618insATATTTTTTTT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213107	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	442	0.0023	11	c.244 others(26): Show c.244-619_244-618insATATATATATA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2			chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62272042	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03041.hp2 HG03130.hp2 others(3): Show HG02083.hp2 HG03041.hp2 HG03130.hp2 NA18956.hp2 NA18994.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0058	6	390	0.0154	11	c.244 others(26): Show c.244-904_244-894dupAAAAAAAAAAA	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34612018	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0330 a0001c0001t0121g0330	1	370	0.0027	11	c.-20 others(34): Show c.-2031-15425_-2031-15424insAAAAAAAAAAA	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGN_chr6_25647215_25706783	25682397	G G	GCACTTCA others(4): Show GCACTTCAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG03130.hp1 others(2): Show HG02145.hp1 HG02922.hp2 HG03130.hp1 NA18522.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0004c0005t0011	a0001c0001t0003g0230 a0001c0001t0004g0265 a0001c0001t0006g0266 others(2): Show a0001c0001t0003g0230 a0001c0001t0004g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0004c0005t0011g0264	5	368	0.0136	11	c.527 others(26): Show c.527+395_527+396insTCAAGAACACT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCGN_chr6_25647215_25706783	25688801	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01433.hp1 others(13): Show HG00323.hp2 HG01069.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG02109.hp1 HG02486.hp2 HG02647.hp1 HG02738.hp2 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03688.hp2 NA18954.hp2 NA18959.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0045 a0001c0001t0001g0095 a0001c0001t0001g0164 others(11): Show a0001c0001t0001g0045 a0001c0001t0001g0095 a0001c0001t0001g0164 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0259 a0001c0001t0004g0288 a0001c0001t0005g0263 a0001c0001t0005g0315 a0001c0001t0007g0004 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0010g0225	16	368	0.0435	11	c.528 others(26): Show c.528-367_528-357dupAAAAAAAAAAA	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159300113	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03654.hp2 NA18747.hp2 others(1): Show HG02723.hp1 HG03654.hp2 NA18747.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070	4	100	0.0400	11	c.63+ others(28): Show c.63+26246_63+26256dupTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159379640	C C	CTGCACAC others(4): Show CTGCACACTGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01167.hp1 others(35): Show HG00438.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01978.hp1 HG02027.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19007.hp2 NA19043.hp1 NA19058.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0005g0080 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0092 a0001c0004t0001g0018	38	100	0.3800	11	c.63+ others(30): Show c.63+105757_63+105758insTGCACACTGGG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159423629	G G	GCGCACAG others(4): Show GCGCACAGACAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG02027.hp1 others(14): Show HG01255.hp1 HG01884.hp1 HG02027.hp1 HG02145.hp2 HG02630.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03654.hp1 NA18522.hp2 NA18747.hp1 NA19007.hp1 NA19007.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0002t0001g0048 a0001c0002t0002g0047	17	100	0.1700	11	c.63+ others(30): Show c.63+149747_63+149757dupCGCACAGACAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159468777	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	100	0.0100	11	c.63+ others(30): Show c.63+194895_63+194896insATATATTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159637422	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	100	0.0100	11	c.64- others(30): Show c.64-127021_64-127020insACACACACACA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159704417	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	100	0.0100	11	c.64- others(28): Show c.64-60009_64-59999dupAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar

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