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
SRRD_chr22_26478877_26499658	26490559	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01123.hp1 HG01192.hp2 others(15): Show HG00099.hp2 HG01123.hp1 HG01192.hp2 HG01361.hp1 HG01433.hp2 HG01975.hp2 HG02155.hp2 HG02258.hp1 HG02486.hp1 HG03239.hp1 NA18747.hp2 NA18987.hp2 NA18993.hp1 NA18997.hp1 NA19012.hp1 NA19074.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0006g0016	18	448	0.0402	16	c.764 others(31): Show c.764+368_764+383dupTTTTTTTTTTTTTTTT	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG03453.hp1 HG03453.hp2 HG01069.hp2 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0003t0003g0015 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0003t0003g0015	3	352	0.0085	16	c.-28 others(27): Show c.-2808_-2807insAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01943.hp2 HG03471.hp1 others(4): Show HG00597.hp1 HG01943.hp2 HG03471.hp1 NA18959.hp1 NA18967.hp1 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0237 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0284 a0001c0001t0002g0092	7	352	0.0199	16	c.726 others(31): Show c.726-386_726-371dupATATATATATATATAT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0300 a0001c0001t0009g0300	1	352	0.0028	16	c.37 others(27): Show c.3765_*3766insTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2771		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76234194	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02280.hp1 others(6): Show HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02622.hp1 HG04184.hp1 HG04204.hp1 NA18998.hp2 NA19088.hp1 NA20129.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0002c0018 a0016c0016 a0002c0002 a0002c0018 a0016c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0018t0003 a0016c0016t0001	a0002c0002t0001g0282 a0002c0002t0002g0233 a0002c0002t0002g0234 others(6): Show a0002c0002t0001g0282 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0018t0003g0324 a0016c0016t0001g0317	9	324	0.0278	16	c.-39 others(31): Show c.-39-819_-39-804dupGTGTGTGTGTGTGTGT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM4_chr12_118976541_119168051	119043775	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0246 a0001c0001t0067g0246	1	328	0.0031	16	c.132 others(35): Show c.132-58443_132-58428dupCACACACACACACACA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119122292	C C	CAGGAAGG others(9): Show CAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp1 HG02886.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0060 a0001c0001t0020 a0001c0001t0060	a0001c0001t0020g0031 a0001c0001t0060g0032 a0001c0001t0020g0031 a0001c0001t0060g0032	2	328	0.0061	16	c.515 others(31): Show c.515+204_515+219dupAAGGAAGGAAGGAAGG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119126014	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0066 a0002c0002t0005g0066	1	328	0.0031	16	c.614 others(31): Show c.614+547_614+562dupTTTTTTTTTTTTTTTT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119160283	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0133 a0001c0001t0108g0133	1	328	0.0031	16	c.34 others(27): Show c.3490_*3491insCTCTCTCTCTGTCTCT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	13/13	3491	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(81): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03834.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18972.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19086.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0009 a0002c0002 a0002c0018 others(3): Show a0001c0009 a0002c0002 a0002c0018 a0004c0004 a0005c0006 a0006c0005	a0001c0009t0001 a0002c0002t0001 a0002c0018t0001 others(3): Show a0001c0009t0001 a0002c0002t0001 a0002c0018t0001 a0004c0004t0001 a0005c0006t0001 a0006c0005t0001	a0001c0009t0001g0000 a0002c0002t0001g0000 a0002c0018t0001g0000 others(3): Show a0001c0009t0001g0000 a0002c0002t0001g0000 a0002c0018t0001g0000 a0004c0004t0001g0000 a0005c0006t0001g0000 a0006c0005t0001g0000	84	416	0.2019	16	c.-27 others(27): Show c.-2763_-2762insGAGAGAGAGAGAGAGA	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding		2728		chr19	TogoVar
SRSF11_chr1_70216380_70258052	70254510	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02055.hp1 HG02738.hp2 others(1): Show HG02004.hp1 HG02055.hp1 HG02738.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0158 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164	4	338	0.0118	16	c.37 others(27): Show c.3705_*3706insGTGTGTGTGTGTGTGT	SRSF11	ENSG00000116754.14	transcript	ENST00000370949.2	protein_coding		1459		chr1	TogoVar
SRSF12_chr6_89090959_89123071	89092206	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	376	0.0027	16	c.63 others(27): Show c.6371_*6372insTTTTTTTTTTTTTTTT	SRSF12	ENSG00000154548.9	transcript	ENST00000452027.3	protein_coding		3752		chr6	TogoVar
SRSF3_chr6_36589362_36610600	36596574	C C	CGGGGGGG others(9): Show CGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp2 HG02615.hp2 others(6): Show HG00673.hp2 HG01106.hp2 HG02615.hp2 HG04115.hp2 NA19011.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19075.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0002 a0001c0001t0018 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0024 a0007c0005t0002	a0001c0001t0002g0038 a0001c0001t0002g0123 a0001c0001t0002g0181 others(5): Show a0001c0001t0002g0038 a0001c0001t0002g0123 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0018g0083 a0001c0001t0024g0180 a0007c0005t0002g0075	9	382	0.0236	16	c.-2- others(29): Show c.-2-177_-2-176insGGGGGGGGGGGGGGGG	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF4_chr1_29142743_29186900	29178353	C C	CTTCTTTT others(9): Show CTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(77): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG01168.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02486.hp1 HG02622.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA20905.hp2	a0003 a0004 a0010 a0003 a0004 a0010	a0003c0003 a0003c0004 a0004c0006 others(1): Show a0003c0003 a0003c0004 a0004c0006 a0010c0012	a0003c0003t0001 a0003c0004t0001 a0004c0006t0001 others(1): Show a0003c0003t0001 a0003c0004t0001 a0004c0006t0001 a0010c0012t0001	a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0024 others(65): Show a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0291 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0305 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0310 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0320 a0003c0004t0001g0007 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0249 a0003c0004t0001g0250 a0004c0006t0001g0292 a0010c0012t0001g0290	80	368	0.2174	16	c.107 others(33): Show c.107+3292_107+3293insAAAAAAAAAAAAAGAA	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding	1/5			chr1	TogoVar
SRSF6_chr20_43452896_43469243	43461334	G G	GTTTTTTT others(9): Show GTTTTTTTGTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0018 a0001c0001t0098g0018	1	464	0.0022	16	c.27 others(25): Show c.273_*274insTTTTTGTTTTTTTTTT	SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding	6/6	274	INFO_REALIGN_3_PRIME	chr20	TogoVar
SRSF8_chr11_95061919_95076225	95070368	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02615.hp2 others(7): Show HG01884.hp1 HG02257.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0049 a0001c0001t0057 others(1): Show a0001c0001t0009 a0001c0001t0049 a0001c0001t0057 a0001c0002t0009	a0001c0001t0009g0000 a0001c0001t0049g0000 a0001c0001t0057g0000 others(1): Show a0001c0001t0009g0000 a0001c0001t0049g0000 a0001c0001t0057g0000 a0001c0002t0009g0000	10	402	0.0249	16	c.22 others(27): Show c.2294_*2309dupAAAAAAAAAAAAAAAA	SRSF8	ENSG00000263465.5	transcript	ENST00000587424.3	protein_coding	1/1	2310	INFO_REALIGN_3_PRIME	chr11	TogoVar
SRXN1_chr20_641615_658200	641634	C C	CACAAAAT others(9): Show CACAAAATAATAACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	16	c.70 others(27): Show c.7079_*7080insATTGTTATTATTTTGT	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4980		chr20	TogoVar
SRXN1_chr20_641615_658200	646515	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01168.hp2 others(23): Show HG00642.hp1 HG00733.hp1 HG01168.hp2 HG01256.hp1 HG02135.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02896.hp2 HG03017.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 NA18522.hp2 NA18952.hp1 NA18965.hp1 NA18971.hp1 NA18980.hp2 NA18985.hp1 NA18995.hp1 NA19063.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0004	a0001c0001t0004g0016 a0001c0001t0004g0055 a0001c0001t0004g0071 others(10): Show a0001c0001t0004g0016 a0001c0001t0004g0055 a0001c0001t0004g0071 a0001c0001t0004g0089 a0001c0001t0004g0098 a0001c0001t0004g0122 a0001c0001t0005g0032 a0001c0001t0007g0021 a0001c0001t0009g0034 a0001c0002t0004g0007 a0001c0002t0004g0149 a0001c0002t0004g0151 a0001c0002t0004g0155	26	422	0.0616	16	c.21 others(27): Show c.2198_*2199insTTTTTTTTTTTTTTTT	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		99		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62146604	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0288 a0001c0002t0025g0288	1	316	0.0032	16	c.69+ others(31): Show c.69+2715_69+2716insTTTTTTTTTTTTTTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10			chr20	TogoVar
SS18L1_chr20_62138769_62187514	62146605	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp2 HG02895.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0004 a0001c0002t0010	a0001c0002t0004g0271 a0001c0002t0010g0272 a0001c0002t0004g0271 a0001c0002t0010g0272	2	316	0.0063	16	c.69+ others(31): Show c.69+2722_69+2737dupTTTTTTTTTTTTTTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62177504	C C	CCTCCCCC others(9): Show CCTCCCCCATTTCCTCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	316	0.0032	16	c.116 others(35): Show c.1165-1670_1165-1669insTTTCCTCGCTCCCCCA	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18_chr18_26011253_26095613	26065800	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01243.hp1 others(28): Show HG00735.hp2 HG01109.hp2 HG01243.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 NA18522.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA19000.hp1 NA19000.hp2 NA19066.hp1 NA19072.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0005 a0002c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0027 others(28): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0095 a0001c0001t0001g0118 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0196 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0306 a0001c0001t0002g0272 a0001c0001t0003g0201 a0001c0001t0003g0226 a0001c0001t0003g0244 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0270 a0001c0004t0005g0014 a0001c0004t0005g0015 a0002c0003t0001g0101 a0002c0003t0001g0103	31	318	0.0975	16	c.232 others(33): Show c.232-8074_232-8059dupATATATATATATATAT	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10			chr18	TogoVar
SSBP1_chr7_141733358_141755488	141738137	T T	TTTCCAAA others(9): Show TTTCCAAACTTGAAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0005 a0001c0001 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0003c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0006t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0002g0001 a0003c0006t0001g0044 a0004c0005t0001g0001	219	424	0.5165	16	c.-31 others(25): Show c.-317_-316insTTCCAAACTTGAAACC	SSBP1	ENSG00000106028.11	transcript	ENST00000265304.11	protein_coding		220		chr7	TogoVar
SSBP2_chr5_81407804_81756097	81445136	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02615.hp1 NA20805.hp2 HG00323.hp2 HG02615.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0024 a0001c0001t0002 a0001c0001t0016 a0001c0001t0024	a0001c0001t0002g0028 a0001c0001t0016g0168 a0001c0001t0024g0117 a0001c0001t0002g0028 a0001c0001t0016g0168 a0001c0001t0024g0117	3	206	0.0146	16	c.802 others(33): Show c.802+1731_802+1732insTATATATATATATATA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	12/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81445138	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01952.hp2 NA18950.hp2 HG00408.hp2 HG01952.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0001 a0001c0002t0022	a0001c0002t0001g0016 a0001c0002t0001g0058 a0001c0002t0022g0073 a0001c0002t0001g0016 a0001c0002t0001g0058 a0001c0002t0022g0073	3	206	0.0146	16	c.802 others(33): Show c.802+1714_802+1729dupTATATATATATATATA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	12/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01175.hp2 others(5): Show HG00733.hp1 HG01109.hp1 HG01175.hp2 HG03516.hp1 NA18961.hp2 NA19043.hp1 NA19079.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0023	a0001c0001t0005g0145 a0001c0001t0005g0163 a0001c0001t0008g0134 others(5): Show a0001c0001t0005g0145 a0001c0001t0005g0163 a0001c0001t0008g0134 a0001c0001t0008g0135 a0001c0001t0008g0146 a0001c0001t0019g0129 a0001c0001t0023g0089 a0001c0001t0023g0107	8	206	0.0388	16	c.283 others(35): Show c.283-29116_283-29101dupGAGAGAGAGAGAGAGA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02970.hp1 HG02572.hp2 HG02723.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0005g0067 a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0005g0067	3	280	0.0107	16	c.927 others(33): Show c.927+3665_927+3680dupAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01361.hp1 others(11): Show HG01074.hp1 HG01081.hp1 HG01361.hp1 HG01884.hp2 HG02976.hp1 HG03225.hp2 HG03704.hp2 HG04199.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19010.hp1 NA19066.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022	a0001c0001t0002g0121 a0001c0001t0003g0181 a0001c0001t0003g0215 others(11): Show a0001c0001t0002g0121 a0001c0001t0003g0181 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0004g0072 a0001c0001t0004g0078 a0001c0001t0004g0130 a0001c0001t0004g0157 a0001c0001t0005g0101 a0001c0001t0008g0262 a0001c0001t0016g0102 a0001c0001t0016g0129 a0001c0001t0017g0214 a0001c0001t0022g0275	14	280	0.0500	16	c.277 others(35): Show c.277-17419_277-17404dupGTGTGTGTGTGTGTGT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54327217	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02293.hp1 HG02615.hp1 others(2): Show HG00738.hp1 HG02293.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0004t0020	a0001c0001t0001g0115 a0001c0001t0002g0148 a0001c0001t0008g0240 others(2): Show a0001c0001t0001g0115 a0001c0001t0002g0148 a0001c0001t0008g0240 a0001c0001t0009g0192 a0001c0004t0020g0086	5	280	0.0179	16	c.277 others(35): Show c.277-45706_277-45691dupCCTTCCTTCCTTCCTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02897.hp2 HG03130.hp2 HG02451.hp1 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0001g0139 a0001c0001t0002g0087 a0001c0001t0001g0063 a0001c0001t0001g0139 a0001c0001t0002g0087	3	280	0.0107	16	c.277 others(35): Show c.277-55974_277-55959dupAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG06807.hp2 NA19030.hp1 HG02055.hp2 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0108 a0001c0001t0005g0080 a0001c0001t0005g0116 a0001c0001t0001g0108 a0001c0001t0005g0080 a0001c0001t0005g0116	3	280	0.0107	16	c.276 others(35): Show c.276+15162_276+15177dupAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03471.hp1 HG03471.hp2 others(1): Show HG02300.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0024 a0001c0001t0046 a0001c0002t0013 others(1): Show a0001c0001t0024 a0001c0001t0046 a0001c0002t0013 a0001c0004t0004	a0001c0001t0024g0133 a0001c0001t0046g0280 a0001c0002t0013g0088 others(1): Show a0001c0001t0024g0133 a0001c0001t0046g0280 a0001c0002t0013g0088 a0001c0004t0004g0142	4	280	0.0143	16	c.276 others(33): Show c.276+5652_276+5667dupTTTTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GGAAAAAA others(9): Show GGAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0239 a0001c0001t0042g0239	1	280	0.0036	16	c.276 others(33): Show c.276+5667_276+5668insTTTTTTTTTTTTTTTC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSB_chr2_169793871_169817064	169814468	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01123.hp2 others(20): Show HG00642.hp2 HG00738.hp2 HG01123.hp2 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG03486.hp2 HG03540.hp1 HG03688.hp1 HG04199.hp1 NA18970.hp1 NA19000.hp2 NA19011.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0132	23	426	0.0540	16	c.27 others(27): Show c.2712_*2713insAAAAAAAAAAAAAAAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding		2405		chr2	TogoVar
SSC4D_chr7_76384337_76414697	76405271	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG02257.hp2 others(3): Show HG01255.hp2 HG01346.hp1 HG02257.hp2 NA19003.hp2 NA19240.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0241 others(3): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0003c0003t0001g0161	6	388	0.0155	16	c.-66 others(31): Show c.-66-782_-66-767dupTATATATATATATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC4D_chr7_76384337_76414697	76405271	T T	TTTTATAT others(9): Show TTTTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0086 a0001c0005t0003g0086	1	388	0.0026	16	c.-66 others(31): Show c.-66-767_-66-766insTATATATATATATAAA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495216	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0004 a0004	a0004c0050 a0004c0050	a0004c0050t0001 a0004c0050t0001	a0004c0050t0001g0115 a0004c0050t0001g0115	1	412	0.0024	16	c.138 others(33): Show c.1387+436_1387+451dupATATATATATATATAT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	412	0.0024	16	c.138 others(33): Show c.1387+451_1387+452insATATATATTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(9): Show ATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	412	0.0024	16	c.138 others(33): Show c.1387+451_1387+452insATATATTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATTTTT others(9): Show ATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	412	0.0024	16	c.138 others(33): Show c.1387+451_1387+452insATTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108813764	G G	GAGGGGAA others(9): Show GAGGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG02965.hp2 others(1): Show HG01884.hp2 HG02818.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0012 a0001c0001t0035 a0001c0011t0049 others(1): Show a0001c0001t0012 a0001c0001t0035 a0001c0011t0049 a0001c0011t0050	a0001c0001t0012g0308 a0001c0001t0035g0307 a0001c0011t0049g0305 others(1): Show a0001c0001t0012g0308 a0001c0001t0035g0307 a0001c0011t0049g0305 a0001c0011t0050g0306	4	332	0.0121	16	c.402 others(33): Show c.402-2452_402-2437dupTCCCTTCCCTTCCCCT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	5/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108835888	T T	TTATAATA others(9): Show TTATAATATAGTTATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp1 HG02965.hp1 HG02257.hp2 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0089 a0001c0010t0036 a0001c0010t0037 a0001c0001t0089 a0001c0010t0036 a0001c0010t0037	a0001c0001t0089g0309 a0001c0010t0036g0311 a0001c0010t0037g0310 a0001c0001t0089g0309 a0001c0010t0036g0311 a0001c0010t0037g0310	3	332	0.0090	16	c.111 others(35): Show c.111-12528_111-12527insTTATAACTATATTATA	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108859300	T T	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 NA19064.hp1 HG01517.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0001 a0001c0025t0001 a0001c0002t0001 a0001c0025t0001	a0001c0002t0001g0069 a0001c0025t0001g0090 a0001c0002t0001g0069 a0001c0025t0001g0090	2	332	0.0060	16	c.-18 others(27): Show c.-1820_-1805dupGAAGGAAGGAAGGAAG	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		1718		chr12	TogoVar
SSH1_chr12_108773191_108862583	108859335	T T	TCCTTCCT others(9): Show TCCTTCCTGCCTGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG02965.hp2 HG01884.hp2 HG02818.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0035 a0001c0011t0049 a0001c0011t0050 a0001c0001t0035 a0001c0011t0049 a0001c0011t0050	a0001c0001t0035g0307 a0001c0011t0049g0305 a0001c0011t0050g0306 a0001c0001t0035g0307 a0001c0011t0049g0305 a0001c0011t0050g0306	3	332	0.0090	16	c.-18 others(27): Show c.-1840_-1839insCAGGCAGGCAGGAAGG	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		1753		chr12	TogoVar
SSH1_chr12_108773191_108862583	108859335	T T	TCCTTCCT others(9): Show TCCTTCCTTCCTTCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0037 a0001c0010t0037	a0001c0010t0037g0310 a0001c0010t0037g0310	1	332	0.0030	16	c.-18 others(27): Show c.-1840_-1839insCAGGAAGGAAGGAAGG	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		1753		chr12	TogoVar
SSH2_chr17_29620938_29935228	29661061	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0018 a0014c0016t0018	a0014c0016t0018g0004 a0014c0016t0018g0004	1	232	0.0043	16	c.103 others(35): Show c.1033-5470_1033-5455dupTTTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	11/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29708993	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0010 a0015c0012t0010	a0015c0012t0010g0133 a0015c0012t0010g0133	1	232	0.0043	16	c.189 others(33): Show c.189-5947_189-5932dupATATATATATATATAT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29709015	T T	TATAGAGA others(9): Show TATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	232	0.0043	16	c.189 others(33): Show c.189-5954_189-5953insCTCTCTCTCTCTCTAT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29709015	T T	TATATAGA others(9): Show TATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	232	0.0043	16	c.189 others(33): Show c.189-5954_189-5953insCTCTCTCTCTCTATAT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29709015	T T	TATATATA others(9): Show TATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	232	0.0043	16	c.189 others(33): Show c.189-5954_189-5953insCTCTATATATATATAT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15			chr17	TogoVar

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