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
SCARA3_chr8_27628902_27678018	27660838	CTAGCTAG others(5): Show CTAGCTAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0303 a0001c0001t0005g0303	1	408	0.0025	-12	c.136 others(31): Show c.1369+1303_1369+1314delCTAGATAGATAG	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA3_chr8_27628902_27678018	27660842	CTAGATAG others(5): Show CTAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03017.hp1 HG03239.hp1 others(11): Show HG02622.hp1 HG03017.hp1 HG03239.hp1 HG03654.hp1 HG04228.hp1 NA18965.hp1 NA18970.hp2 NA18973.hp1 NA18990.hp2 NA18998.hp1 NA19006.hp2 NA19011.hp1 NA19043.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0170 a0001c0001t0001g0171 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0283 a0001c0001t0002g0275 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0344 a0001c0001t0002g0358 a0001c0001t0002g0360	14	408	0.0343	-12	c.136 others(31): Show c.1369+1334_1369+1345delGATAGATAGATA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(5): Show TTATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00621.hp1 others(22): Show HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01109.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02559.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG03490.hp1 HG03579.hp1 HG03834.hp2 NA18522.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA19005.hp1 NA19062.hp2 NA19064.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0002c0010 a0002c0013 a0002c0015 a0011c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0051 a0001c0002t0056 a0001c0003t0004 a0001c0003t0026 a0001c0007t0023 a0001c0007t0050 a0001c0008t0008 a0001c0009t0003 a0002c0010t0003 a0002c0013t0003 a0002c0013t0006 a0002c0015t0036 a0011c0034t0008	a0001c0001t0001g0267 a0001c0001t0002g0073 a0001c0001t0013g0310 others(22): Show a0001c0001t0001g0267 a0001c0001t0002g0073 a0001c0001t0013g0310 a0001c0002t0001g0154 a0001c0002t0001g0285 a0001c0002t0002g0020 a0001c0002t0002g0101 a0001c0002t0005g0212 a0001c0002t0005g0216 a0001c0002t0051g0113 a0001c0002t0056g0283 a0001c0003t0004g0172 a0001c0003t0026g0128 a0001c0003t0026g0129 a0001c0007t0023g0261 a0001c0007t0050g0002 a0001c0008t0008g0286 a0001c0009t0003g0288 a0002c0010t0003g0198 a0002c0010t0003g0199 a0002c0010t0003g0282 a0002c0013t0003g0301 a0002c0013t0006g0054 a0002c0015t0036g0022 a0011c0034t0008g0306	25	314	0.0796	-12	c.63 others(23): Show c.6345_*6356delTATATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4305		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865781	ATATATAT others(5): Show ATATATATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG03225.hp1 NA18950.hp1 HG00280.hp1 HG03225.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0267 a0001c0002t0001g0238 a0001c0003t0001g0157 a0001c0001t0001g0267 a0001c0002t0001g0238 a0001c0003t0001g0157	3	314	0.0096	-12	c.61 others(23): Show c.6141_*6152delAAAAAATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4101		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865783	ATATATTT others(5): Show ATATATTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01256.hp2 HG01258.hp1 others(8): Show HG00597.hp2 HG01256.hp2 HG01258.hp1 HG01884.hp1 HG02056.hp2 HG02280.hp2 HG02723.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 NA18522.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0006c0026	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0007t0014 a0006c0026t0008	a0001c0001t0002g0044 a0001c0001t0002g0059 a0001c0001t0008g0252 others(8): Show a0001c0001t0002g0044 a0001c0001t0002g0059 a0001c0001t0008g0252 a0001c0001t0014g0214 a0001c0002t0001g0232 a0001c0002t0002g0101 a0001c0003t0001g0156 a0001c0003t0001g0262 a0001c0003t0002g0012 a0001c0007t0014g0136 a0006c0026t0008g0268	11	314	0.0350	-12	c.61 others(23): Show c.6139_*6150delAAAAAAAATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4099		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865785	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01168.hp2 others(21): Show HG00558.hp2 HG00621.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01975.hp2 HG02080.hp1 HG02897.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp1 NA18989.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19064.hp1 NA19067.hp2 NA19087.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0003t0026 a0001c0004t0011 a0001c0005t0045 a0002c0006t0001 a0002c0006t0002	a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0242 others(21): Show a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0242 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0002g0071 a0001c0001t0002g0087 a0001c0001t0008g0141 a0001c0001t0010g0064 a0001c0001t0010g0077 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0220 a0001c0002t0001g0231 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0002g0075 a0001c0003t0026g0129 a0001c0004t0011g0249 a0001c0005t0045g0049 a0002c0006t0001g0271 a0002c0006t0001g0284 a0002c0006t0001g0299 a0002c0006t0002g0103	24	314	0.0764	-12	c.61 others(23): Show c.6137_*6148delAAAAAAAAAATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4097		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865787	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG02135.hp1 HG02135.hp2 others(3): Show HG01071.hp1 HG02135.hp1 HG02135.hp2 NA18973.hp2 NA19005.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0002 a0001c0001t0059 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0059 a0001c0002t0002 a0001c0002t0009 a0002c0006t0009	a0001c0001t0002g0073 a0001c0001t0002g0105 a0001c0001t0059g0182 others(3): Show a0001c0001t0002g0073 a0001c0001t0002g0105 a0001c0001t0059g0182 a0001c0002t0002g0026 a0001c0002t0009g0015 a0002c0006t0009g0052	6	314	0.0191	-12	c.61 others(23): Show c.6135_*6146delAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4095		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27941800	CATTATTA others(5): Show CATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01168.hp1 others(11): Show HG00438.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01516.hp1 HG01517.hp2 HG02040.hp2 HG02056.hp2 HG02132.hp1 HG02258.hp2 HG02523.hp2 HG03017.hp1 HG04204.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0005 a0001c0009 a0002c0013 others(5): Show a0001c0005 a0001c0009 a0002c0013 a0002c0015 a0004c0012 a0004c0028 a0006c0026 a0006c0027	a0001c0005t0004 a0001c0009t0003 a0002c0013t0011 others(8): Show a0001c0005t0004 a0001c0009t0003 a0002c0013t0011 a0002c0015t0014 a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 a0004c0012t0030 a0004c0028t0004 a0006c0026t0008 a0006c0027t0003	a0001c0005t0004g0158 a0001c0005t0004g0178 a0001c0005t0004g0179 others(11): Show a0001c0005t0004g0158 a0001c0005t0004g0178 a0001c0005t0004g0179 a0001c0009t0003g0221 a0002c0013t0011g0257 a0002c0015t0014g0227 a0004c0012t0002g0074 a0004c0012t0005g0137 a0004c0012t0005g0139 a0004c0012t0007g0040 a0004c0012t0030g0038 a0004c0028t0004g0201 a0006c0026t0008g0268 a0006c0027t0003g0295	14	314	0.0446	-12	c.242 others(31): Show c.242-19567_242-19556delAATAATAATAAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27972329	CAAAACAA others(5): Show CAAAACAAAACAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0022 a0001c0024 a0002c0006 a0002c0010 a0002c0013 a0002c0015 a0002c0017 a0003c0011 a0004c0012 a0005c0019 a0005c0029 a0008c0020 a0010c0033 a0011c0034 a0012c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0041 a0001c0001t0058 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0022 a0001c0002t0043 a0001c0002t0048 a0001c0002t0051 a0001c0002t0065 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0012 a0001c0003t0015 a0001c0003t0023 a0001c0004t0003 a0001c0004t0006 a0001c0004t0017 a0001c0004t0052 a0001c0004t0053 a0001c0004t0054 a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 a0001c0005t0013 a0001c0005t0038 a0001c0005t0045 a0001c0007t0002 a0001c0007t0004 a0001c0007t0005 a0001c0007t0014 a0001c0007t0023 a0001c0007t0026 a0001c0008t0001 a0001c0008t0004 a0001c0008t0008 a0001c0008t0027 a0001c0008t0046 a0001c0009t0003 a0001c0009t0017 a0001c0009t0037 a0001c0022t0006 a0001c0024t0009 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0002c0006t0007 a0002c0006t0023 a0002c0010t0003 a0002c0010t0006 a0002c0013t0003 a0002c0013t0006 a0002c0015t0001 a0002c0015t0036 a0002c0017t0001 a0003c0011t0034 a0003c0011t0049 a0004c0012t0005 a0004c0012t0061 a0005c0019t0001 a0005c0019t0025 a0005c0029t0033 a0008c0020t0001 a0010c0033t0003 a0011c0034t0008 a0012c0032t0004	a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0160 others(172): Show a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0005g0174 a0001c0001t0005g0203 a0001c0001t0005g0225 a0001c0001t0005g0250 a0001c0001t0007g0055 a0001c0001t0007g0090 a0001c0001t0007g0094 a0001c0001t0008g0141 a0001c0001t0008g0171 a0001c0001t0008g0260 a0001c0001t0008g0294 a0001c0001t0010g0042 a0001c0001t0010g0064 a0001c0001t0010g0077 a0001c0001t0014g0151 a0001c0001t0014g0214 a0001c0001t0018g0186 a0001c0001t0025g0189 a0001c0001t0030g0056 a0001c0001t0032g0118 a0001c0001t0035g0001 a0001c0001t0041g0078 a0001c0001t0058g0143 a0001c0001t0059g0182 a0001c0002t0001g0144 a0001c0002t0001g0152 a0001c0002t0001g0188 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0276 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0075 a0001c0002t0002g0110 a0001c0002t0005g0168 a0001c0002t0005g0184 a0001c0002t0005g0202 a0001c0002t0005g0204 a0001c0002t0005g0206 a0001c0002t0005g0216 a0001c0002t0005g0272 a0001c0002t0005g0300 a0001c0002t0007g0046 a0001c0002t0007g0088 a0001c0002t0007g0089 a0001c0002t0009g0015 a0001c0002t0009g0063 a0001c0002t0022g0004 a0001c0002t0022g0005 a0001c0002t0022g0006 a0001c0002t0043g0102 a0001c0002t0048g0099 a0001c0002t0051g0113 a0001c0002t0065g0313 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0262 a0001c0003t0002g0029 a0001c0003t0009g0013 a0001c0003t0009g0036 a0001c0003t0010g0111 a0001c0003t0010g0112 a0001c0003t0012g0167 a0001c0003t0012g0183 a0001c0003t0012g0254 a0001c0003t0015g0041 a0001c0003t0015g0047 a0001c0003t0015g0048 a0001c0003t0023g0116 a0001c0004t0003g0219 a0001c0004t0003g0229 a0001c0004t0006g0043 a0001c0004t0006g0045 a0001c0004t0006g0060 a0001c0004t0017g0138 a0001c0004t0017g0145 a0001c0004t0052g0277 a0001c0004t0053g0264 a0001c0004t0054g0233 a0001c0005t0004g0169 a0001c0005t0004g0243 a0001c0005t0004g0244 a0001c0005t0004g0245 a0001c0005t0004g0263 a0001c0005t0004g0296 a0001c0005t0008g0235 a0001c0005t0008g0266 a0001c0005t0009g0091 a0001c0005t0013g0155 a0001c0005t0038g0081 a0001c0005t0045g0049 a0001c0007t0002g0097 a0001c0007t0004g0159 a0001c0007t0005g0126 a0001c0007t0014g0136 a0001c0007t0023g0261 a0001c0007t0026g0205 a0001c0008t0001g0197 a0001c0008t0004g0228 a0001c0008t0004g0302 a0001c0008t0008g0291 a0001c0008t0027g0248 a0001c0008t0046g0095 a0001c0009t0003g0124 a0001c0009t0003g0148 a0001c0009t0003g0240 a0001c0009t0003g0292 a0001c0009t0003g0293 a0001c0009t0003g0298 a0001c0009t0017g0142 a0001c0009t0037g0069 a0001c0022t0006g0025 a0001c0024t0009g0080 a0002c0006t0001g0299 a0002c0006t0002g0079 a0002c0006t0005g0173 a0002c0006t0005g0224 a0002c0006t0007g0083 a0002c0006t0023g0123 a0002c0010t0003g0187 a0002c0010t0003g0282 a0002c0010t0006g0076 a0002c0013t0003g0265 a0002c0013t0003g0274 a0002c0013t0003g0301 a0002c0013t0006g0054 a0002c0015t0001g0281 a0002c0015t0001g0297 a0002c0015t0036g0022 a0002c0017t0001g0303 a0003c0011t0034g0135 a0003c0011t0034g0140 a0003c0011t0049g0014 a0004c0012t0005g0139 a0004c0012t0061g0162 a0005c0019t0001g0190 a0005c0019t0025g0191 a0005c0019t0025g0192 a0005c0029t0033g0127 a0008c0020t0001g0304 a0010c0033t0003g0305 a0011c0034t0008g0306 a0012c0032t0004g0278	175	314	0.5573	-12	c.113 others(29): Show c.113-5799_113-5788delTTGTTTTGTTTT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	2/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27984652	TCATTCAT others(5): Show TCATTCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02818.hp2 others(1): Show HG02559.hp1 HG02809.hp1 HG02818.hp2 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0013 a0003c0011t0028 a0001c0001t0013 a0003c0011t0028	a0001c0001t0013g0310 a0003c0011t0028g0308 a0003c0011t0028g0309 others(1): Show a0001c0001t0013g0310 a0003c0011t0028g0308 a0003c0011t0028g0309 a0003c0011t0028g0311	4	314	0.0127	-12	c.112 others(29): Show c.112+2840_112+2851delGATGGATGAATG	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	2/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27996738	GTTTGTTT others(5): Show GTTTGTTTGTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0121 a0001c0007t0004g0121	1	314	0.0032	-12	c.-45 others(23): Show c.-4509_-4498delTAAACAAACAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4066		chr8	TogoVar
SCARB1_chr12_124771856_124868864	124837468	AAAGAAAG others(5): Show AAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(30): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG03209.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18948.hp1 NA18966.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19060.hp1 NA19068.hp2 NA19078.hp2 NA19080.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0010 a0001c0004t0004 a0001c0007t0001 a0005c0011t0002	a0001c0001t0001g0130 a0001c0001t0001g0193 a0001c0001t0001g0228 others(30): Show a0001c0001t0001g0130 a0001c0001t0001g0193 a0001c0001t0001g0228 a0001c0001t0001g0318 a0001c0001t0002g0221 a0001c0001t0003g0257 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0012g0078 a0001c0002t0001g0147 a0001c0002t0001g0189 a0001c0002t0001g0211 a0001c0002t0001g0227 a0001c0002t0001g0291 a0001c0003t0001g0215 a0001c0003t0002g0149 a0001c0003t0002g0160 a0001c0003t0002g0167 a0001c0003t0002g0182 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0192 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0214 a0001c0003t0002g0273 a0001c0003t0002g0317 a0001c0003t0007g0274 a0001c0003t0010g0278 a0001c0004t0004g0208 a0001c0007t0001g0150 a0005c0011t0002g0210 a0005c0011t0002g0250	33	356	0.0927	-12	c.127 others(31): Show c.127-19773_127-19762delCCTTCCTTTCTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124837504	GGAGAAAA others(5): Show GGAGAAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18971.hp1 NA19007.hp2 HG03041.hp2 NA18971.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0006g0022 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0006g0022	3	356	0.0084	-12	c.127 others(31): Show c.127-19809_127-19798delTTCTTTTTTCTC	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB2_chr4_76153737_76218824	76166653	GAGCCAAC others(5): Show GAGCCAACTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp2 HG02055.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0012 a0001c0008t0012 a0001c0001t0012 a0001c0008t0012	a0001c0001t0012g0191 a0001c0008t0012g0197 a0001c0001t0012g0191 a0001c0008t0012g0197	2	384	0.0052	-12	c.118 others(29): Show c.1188-364_1188-353delGCTCAGTTGGCT	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	9/11			chr4	TogoVar
SCARB2_chr4_76153737_76218824	76198837	AGTGAGTG others(5): Show AGTGAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0211 a0001c0001t0009g0211	1	384	0.0026	-12	c.118 others(29): Show c.118-2985_118-2974delACACACACTCAC	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	1/11			chr4	TogoVar
SCARB2_chr4_76153737_76218824	76198841	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	384	0.0026	-12	c.118 others(29): Show c.118-2989_118-2978delACACACACACAC	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	1/11			chr4	TogoVar
SCARF1_chr17_1628858_1650732	1637327	CCTATCTA others(5): Show CCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02109.hp2 others(5): Show HG01243.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02970.hp2 HG03195.hp1 NA19043.hp2 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0010 a0003c0003 a0005c0005 a0001c0010 a0003c0003 a0005c0005	a0001c0010t0001 a0003c0003t0002 a0005c0005t0002 others(2): Show a0001c0010t0001 a0003c0003t0002 a0005c0005t0002 a0005c0005t0003 a0005c0005t0012	a0001c0010t0001g0019 a0003c0003t0002g0123 a0005c0005t0002g0087 others(3): Show a0001c0010t0001g0019 a0003c0003t0002g0123 a0005c0005t0002g0087 a0005c0005t0002g0103 a0005c0005t0003g0088 a0005c0005t0012g0232	8	401	0.0200	-12	c.136 others(29): Show c.1365-277_1365-266delATAGATAGATAG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCARF2_chr22_20419584_20442825	20421202	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03195.hp2 HG03471.hp2 others(1): Show HG02723.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0020 a0004c0004 others(1): Show a0001c0001 a0002c0020 a0004c0004 a0005c0005	a0001c0001t0002 a0002c0020t0001 a0004c0004t0002 others(1): Show a0001c0001t0002 a0002c0020t0001 a0004c0004t0002 a0005c0005t0002	a0001c0001t0002g0030 a0002c0020t0001g0111 a0004c0004t0002g0043 others(1): Show a0001c0001t0002g0030 a0002c0020t0001g0111 a0004c0004t0002g0043 a0005c0005t0002g0061	4	402	0.0100	-12	c.41 others(23): Show c.4161_*4172delACACACACACAC	SCARF2	ENSG00000244486.9	transcript	ENST00000622235.5	protein_coding		3381		chr22	TogoVar
SCCPDH_chr1_246719409_246773137	246722502	AATATATA others(5): Show AATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00673.hp2 others(40): Show HG00438.hp1 HG00621.hp2 HG00673.hp2 HG01109.hp1 HG01496.hp1 HG01952.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02258.hp2 HG02523.hp2 HG02896.hp2 HG03209.hp2 HG03239.hp1 HG03688.hp1 NA18747.hp1 NA18944.hp1 NA18950.hp1 NA18959.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19003.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0004 a0001c0007t0008 a0001c0002t0004 a0001c0007t0008	a0001c0002t0004g0006 a0001c0002t0004g0011 a0001c0002t0004g0012 others(24): Show a0001c0002t0004g0006 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0047 a0001c0002t0004g0175 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0004g0181 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0193 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0007t0008g0251	43	410	0.1049	-12	c.-19 others(23): Show c.-1920_-1909delATATATATATAT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		1906		chr1	TogoVar
SCCPDH_chr1_246719409_246773137	246736946	CAGTAATG others(5): Show CAGTAATGCACCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01175.hp1 others(15): Show HG00735.hp1 HG01109.hp2 HG01175.hp1 HG01433.hp2 HG01891.hp1 HG02559.hp1 HG02572.hp2 HG02965.hp1 HG03195.hp2 HG03540.hp2 NA18948.hp2 NA18967.hp2 NA18992.hp2 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0002t0004	a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 others(11): Show a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0015g0260 a0001c0002t0004g0176 a0001c0002t0004g0177	18	410	0.0439	-12	c.384 others(27): Show c.384+921_384+932delTGCACCTAGTAA	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCD5_chr4_82624539_82803796	82641253	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02615.hp2 others(9): Show HG01884.hp2 HG02280.hp2 HG02615.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033	a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0073 others(9): Show a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0073 a0001c0001t0003g0094 a0001c0001t0003g0111 a0001c0001t0003g0188 a0001c0001t0009g0193 a0001c0001t0016g0192 a0001c0001t0018g0001 a0001c0001t0022g0182 a0001c0001t0030g0203 a0001c0001t0033g0210	12	210	0.0571	-12	c.570 others(29): Show c.570-4442_570-4431delTTTTTTTTTTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712243	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1 HG04115.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0001 a0001c0001t0002 a0001c0001t0026	a0001c0001t0001g0015 a0001c0001t0002g0146 a0001c0001t0026g0084 a0001c0001t0001g0015 a0001c0001t0002g0146 a0001c0001t0026g0084	3	210	0.0143	-12	c.233 others(29): Show c.233-6842_233-6831delATATATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82795809	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0207 a0001c0002t0029g0207	1	210	0.0048	-12	c.232 others(29): Show c.232+2485_232+2496delTTTTTTTTTTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77573638	CATCTATC others(5): Show CATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02257.hp2 HG03139.hp1 others(3): Show HG02015.hp2 HG02257.hp2 HG03139.hp1 NA18941.hp1 NA18944.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0200 a0001c0004t0001g0226 a0001c0004t0001g0281 others(3): Show a0001c0004t0001g0200 a0001c0004t0001g0226 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0002g0123	6	356	0.0169	-12	c.545 others(29): Show c.545+1482_545+1493delATCTATCTATCT	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCEL_chr13_77530706_77650263	77633596	GATGCCCA others(5): Show GATGCCCAAGTCA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0127 a0001c0004t0002g0127	1	356	0.0028	-12	c.169 others(29): Show c.1692-779_1692-768delCCCAAGTCAATG	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD1_chr14_30617319_30740850	30691932	CTTTATTT others(5): Show CTTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG02622.hp2 others(4): Show HG00639.hp2 HG00735.hp1 HG02622.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0041	7	328	0.0213	-12	c.124 others(31): Show c.1243-2815_1243-2804delTTATTTATTTAT	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703910	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	328	0.0031	-12	c.149 others(31): Show c.1490+1577_1490+1588delTATATATATATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703952	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01975.hp2 HG02083.hp1 others(6): Show HG01175.hp1 HG01975.hp2 HG02083.hp1 HG03834.hp1 NA18612.hp2 NA19007.hp2 NA19060.hp2 NA19079.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0081 a0001c0001t0001g0083 others(6): Show a0001c0001t0001g0049 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0126	9	328	0.0274	-12	c.149 others(31): Show c.1490+1581_1490+1592delTATATATAAATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30739086	ATATGTAT others(5): Show ATATGTATGTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0323 a0002c0002t0001g0323	1	328	0.0031	-12	c.34 others(23): Show c.3478_*3489delTATGTATGTATG	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding		3237		chr14	TogoVar
SCFD2_chr4_52867982_53371061	52875802	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp1 HG02300.hp1 others(4): Show HG00735.hp1 HG01346.hp1 HG02300.hp1 HG02698.hp1 NA18941.hp1 NA18998.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0006	a0001c0001t0007 a0001c0003t0005 a0001c0007t0001 others(1): Show a0001c0001t0007 a0001c0003t0005 a0001c0007t0001 a0002c0006t0005	a0001c0001t0007g0160 a0001c0003t0005g0080 a0001c0003t0005g0120 others(4): Show a0001c0001t0007g0160 a0001c0003t0005g0080 a0001c0003t0005g0120 a0001c0003t0005g0128 a0001c0007t0001g0036 a0002c0006t0005g0089 a0002c0006t0005g0103	7	162	0.0432	-12	c.196 others(31): Show c.1963-1753_1963-1742delTATATATATATA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	8/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	52910361	CCTTGGTA others(5): Show CCTTGGTAAGTGA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	162	0.0062	-12	c.170 others(31): Show c.1708-2782_1708-2771delTCACTTACCAAG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	6/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53082975	CTCTTTCT others(5): Show CTCTTTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0015 a0002c0006t0003g0015	1	162	0.0062	-12	c.156 others(33): Show c.1561+62346_1561+62357delAAGAGAGAAAGA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53188418	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 NA19240.hp1 HG01243.hp2 HG01884.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0010 a0001c0001 a0001c0003 a0005c0010	a0001c0001t0001 a0001c0003t0003 a0005c0010t0001 a0001c0001t0001 a0001c0003t0003 a0005c0010t0001	a0001c0001t0001g0123 a0001c0003t0003g0062 a0005c0010t0001g0001 a0001c0001t0001g0123 a0001c0003t0003g0062 a0005c0010t0001g0001	3	162	0.0185	-12	c.131 others(33): Show c.1312-42848_1312-42837delACACACACACAC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53236808	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0051 a0001c0004t0003g0051	1	162	0.0062	-12	c.131 others(33): Show c.1311+37006_1311+37017delTAAATAAATAAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53239397	TGAGAGGG others(5): Show TGAGAGGGAGAGG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	162	0.0062	-12	c.131 others(33): Show c.1311+34417_1311+34428delCCTCTCCCTCTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53258538	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03704.hp1 NA18945.hp2 HG01346.hp2 HG03704.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0005t0001 a0001c0007t0001 a0001c0001t0002 a0001c0005t0001 a0001c0007t0001	a0001c0001t0002g0129 a0001c0005t0001g0034 a0001c0007t0001g0029 a0001c0001t0002g0129 a0001c0005t0001g0034 a0001c0007t0001g0029	3	162	0.0185	-12	c.131 others(33): Show c.1311+15276_1311+15287delTATATATATATA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53356740	TTTTTTTT others(5): Show TTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	162	0.0062	-12	c.839 others(29): Show c.839-3986_839-3975delCAAAAAAAAAAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	1/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704240	CATACATA others(5): Show CATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02559.hp1 HG00423.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0347 a0001c0002t0004g0358 a0001c0002t0004g0347 a0001c0002t0004g0358	2	402	0.0050	-12	c.120 others(31): Show c.1207+3000_1207+3011delCATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51704764	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp2 HG02055.hp2 others(21): Show HG01255.hp1 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 others(2): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0012 a0002c0009t0003	a0002c0003t0001g0363 a0002c0003t0003g0303 a0002c0003t0003g0360 others(21): Show a0002c0003t0001g0363 a0002c0003t0003g0303 a0002c0003t0003g0360 a0002c0003t0003g0364 a0002c0003t0003g0365 a0002c0003t0003g0366 a0002c0003t0003g0367 a0002c0003t0003g0368 a0002c0003t0003g0369 a0002c0003t0003g0371 a0002c0003t0003g0372 a0002c0003t0003g0373 a0002c0003t0003g0374 a0002c0003t0003g0375 a0002c0003t0003g0376 a0002c0003t0003g0377 a0002c0003t0003g0379 a0002c0003t0003g0380 a0002c0003t0003g0382 a0002c0003t0003g0383 a0002c0003t0005g0381 a0002c0003t0012g0362 a0002c0003t0012g0370 a0002c0009t0003g0378	24	402	0.0597	-12	c.120 others(31): Show c.1207+3540_1207+3551delTATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709662	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18993.hp2 NA19060.hp1 NA18981.hp1 NA18993.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0005g0093 a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0005g0093	3	402	0.0075	-12	c.120 others(31): Show c.1208-3642_1208-3631delATATATATATAT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709695	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03130.hp1 HG03239.hp2 others(2): Show HG01978.hp2 HG03130.hp1 HG03239.hp2 HG03710.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0003 a0001c0001t0001 a0001c0001t0002 a0002c0003t0003	a0001c0001t0001g0104 a0001c0001t0001g0232 a0001c0001t0002g0154 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0232 a0001c0001t0002g0154 a0001c0001t0002g0216 a0002c0003t0003g0367	5	402	0.0124	-12	c.120 others(31): Show c.1208-3636_1208-3625delATATATTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709697	ATATATTT others(5): Show ATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18942.hp1 HG03471.hp2 NA18942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0012 a0001c0001t0002 a0002c0003t0012	a0001c0001t0002g0139 a0002c0003t0012g0370 a0001c0001t0002g0139 a0002c0003t0012g0370	2	402	0.0050	-12	c.120 others(31): Show c.1208-3634_1208-3623delATATTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709701	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	402	0.0025	-12	c.120 others(31): Show c.1208-3606_1208-3595delTTTTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51718199	TAGACAGA others(5): Show TAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18965.hp1 HG02074.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0001g0150 a0001c0001t0001g0201	2	402	0.0050	-12	c.128 others(31): Show c.1289-1181_1289-1170delCAGACAGACAGA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663032	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG01515.hp1 others(8): Show HG01346.hp2 HG01361.hp2 HG01515.hp1 HG02155.hp2 HG02165.hp2 HG03098.hp2 NA18962.hp1 NA18980.hp1 NA19060.hp1 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0001g0112 a0001c0001t0001g0125 others(8): Show a0001c0001t0001g0060 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0180 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0316 a0001c0001t0003g0270	11	415	0.0265	-12	c.227 others(31): Show c.227-16698_227-16687delTATATATATATA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	191824	CCCCTAAC others(5): Show CCCCTAACCCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA18969.hp2 NA18990.hp2 HG03540.hp1 NA18969.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0002 a0001c0004t0001 a0002c0001t0002	a0001c0004t0001g0001 a0002c0001t0002g0001 a0001c0004t0001g0001 a0002c0001t0002g0001	3	354	0.0085	-12	c.-12 others(23): Show c.-1275_-1264delCCCTAACCCTAA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1253		chr11	TogoVar
SCGB1C2_chr17_132569_144067	140831	CTGGGGGG others(5): Show CTGGGGGGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	2	402	0.0050	-12	c.18 others(23): Show c.1890_*1901delTGGGGGGGACCT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1765		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141045	ACATGGGG others(5): Show ACATGGGGGGGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(54): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02293.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp1 HG03688.hp1 HG03831.hp2 NA18747.hp1 NA18940.hp1 NA18945.hp1 NA18955.hp1 NA18956.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18993.hp1 NA18999.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0002 a0007c0006t0002 a0001c0001t0002 a0007c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0026 a0007c0006t0002g0004	57	402	0.1418	-12	c.21 others(23): Show c.2104_*2115delCATGGGGGGGAC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1979		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141153	AGGAGGAC others(5): Show AGGAGGACCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0002 a0006c0007t0001g0002	1	402	0.0025	-12	c.22 others(23): Show c.2212_*2223delGGAGGACCTGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2087		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141161	CTGGGGGG others(5): Show CTGGGGGGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	2	402	0.0050	-12	c.22 others(23): Show c.2220_*2231delTGGGGGGGACCT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2095		chr17	TogoVar

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