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
SPRR2D_chr1_153034732_153046120	153038522	A A	ATTTAATT others(15): Show ATTTAATTGTAACTTTATACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(219): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19059.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0002t0007 a0002c0004t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0004g0004 a0001c0001t0005g0008 a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0007g0014 a0002c0004t0001g0018 a0003c0003t0001g0015	222	452	0.4912	22	c.16 others(33): Show c.1605_*1606insCGGGTATAAAGTTACAATTAAA	SPRR2D	ENSG00000163216.7	transcript	ENST00000360379.4	protein_coding		1209		chr1	TogoVar
SPRR4_chr1_152965648_152977574	152967165	T T	TAACAACC others(15): Show TAACAACCTTTCTTTTCTCCAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	22	c.-35 others(33): Show c.-3550_-3549insAACAACCTTTCTTTTCTCCAAA	SPRR4	ENSG00000184148.4	transcript	ENST00000328051.3	protein_coding		3482		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(15): Show GTCTCTCTCCCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02897.hp2 others(1): Show HG02055.hp1 HG02723.hp2 HG02897.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0083 a0001c0001t0119 others(1): Show a0001c0001t0022 a0001c0001t0083 a0001c0001t0119 a0001c0002t0033	a0001c0001t0022g0107 a0001c0001t0083g0109 a0001c0001t0119g0102 others(1): Show a0001c0001t0022g0107 a0001c0001t0083g0109 a0001c0001t0119g0102 a0001c0002t0033g0108	4	203	0.0197	22	c.-28 others(41): Show c.-282+3461_-282+3462insCCTCTCTCTCTCTCTCTCTCTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY4_chr5_142305430_142330021	142311935	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp1 NA19088.hp2 HG03669.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0066 a0001c0001t0055 a0001c0001t0066	a0001c0001t0055g0147 a0001c0001t0066g0065 a0001c0001t0055g0147 a0001c0001t0066g0065	2	28	0.0714	22	c.22 others(33): Show c.2252_*2273dupACACACACACACACACACACAC	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2273		chr5	TogoVar
SPSB1_chr1_9287894_9374532	9296594	A A	ACACATAC others(15): Show ACACATACACAAACGTGTGCATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0036 a0002c0007t0005g0036	1	224	0.0045	22	c.-15 others(41): Show c.-150+3527_-150+3528insTACACAAACGTGTGCATGCACA	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTTT others(15): Show ATTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03688.hp1 HG02071.hp2 HG03688.hp1	a0001 a0030 a0001 a0030	a0001c0001 a0030c0057 a0001c0001 a0030c0057	a0001c0001t0002 a0030c0057t0002 a0001c0001t0002 a0030c0057t0002	a0001c0001t0002g0058 a0030c0057t0002g0040 a0001c0001t0002g0058 a0030c0057t0002g0040	2	164	0.0122	22	c.258 others(41): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAATAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03139.hp1 HG04199.hp1 others(3): Show HG01361.hp2 HG03139.hp1 HG04199.hp1 NA18952.hp1 NA18978.hp1 NA18993.hp1	a0001 a0051 a0001 a0051	a0001c0001 a0001c0004 a0051c0031 a0001c0001 a0001c0004 a0051c0031	a0001c0001t0002 a0001c0004t0006 a0051c0031t0051 a0001c0001t0002 a0001c0004t0006 a0051c0031t0051	a0001c0001t0002g0003 a0001c0001t0002g0064 a0001c0001t0002g0072 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0004t0006g0187 a0051c0031t0051g0163	6	168	0.0357	22	c.258 others(41): Show c.2587+1670_2587+1691dupAAAAAAAAAAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01256.hp1 others(2): Show HG00558.hp1 HG00597.hp1 HG01256.hp1 NA18944.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0048 a0001c0001t0001g0099 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0008g0098	5	26	0.1923	22	c.-3- others(37): Show c.-3-5071_-3-5050dupAAAAAAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0279 a0002c0004t0002g0279	1	202	0.0050	22	c.363 others(39): Show c.363+1434_363+1435insATATATATATATATATATTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0278 a0002c0004t0001g0278	1	202	0.0050	22	c.363 others(39): Show c.363+1434_363+1435insATATATATATATTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54465637	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0178 a0002c0006t0003g0178	1	257	0.0039	22	c.-48 others(39): Show c.-48+9119_-48+9120insATATATATATATATATATATAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54465639	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0299 a0001c0002t0006g0299	1	20	0.0500	22	c.-48 others(39): Show c.-48+9130_-48+9151dupATATATATATATATATATATAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54485152	C C	CTCTCCCT others(15): Show CTCTCCCTCTCCCTCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(64): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00735.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp1 HG01517.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02300.hp1 HG02486.hp1 HG02698.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0014 a0001c0021 a0001c0023 a0001c0029 a0004c0034 a0006c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 a0001c0001t0029 a0001c0001t0044 a0001c0002t0001 a0001c0002t0006 a0001c0002t0028 a0001c0002t0047 a0001c0003t0003 a0001c0004t0004 a0001c0007t0001 a0001c0009t0002 a0001c0009t0007 a0001c0009t0010 a0001c0009t0045 a0001c0010t0002 a0001c0014t0037 a0001c0021t0001 a0001c0023t0005 a0001c0029t0007 a0004c0034t0001 a0006c0022t0052	a0001c0001t0001g0082 a0001c0001t0002g0078 a0001c0001t0002g0079 others(64): Show a0001c0001t0001g0082 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0282 a0001c0001t0007g0197 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0022g0119 a0001c0001t0029g0100 a0001c0001t0044g0297 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0103 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0291 a0001c0002t0001g0312 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0006g0115 a0001c0002t0006g0273 a0001c0002t0006g0276 a0001c0002t0006g0290 a0001c0002t0006g0293 a0001c0002t0028g0295 a0001c0002t0028g0296 a0001c0002t0047g0271 a0001c0003t0003g0284 a0001c0004t0004g0194 a0001c0004t0004g0195 a0001c0004t0004g0196 a0001c0004t0004g0277 a0001c0007t0001g0081 a0001c0007t0001g0120 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0311 a0001c0009t0002g0287 a0001c0009t0007g0278 a0001c0009t0007g0285 a0001c0009t0007g0286 a0001c0009t0007g0288 a0001c0009t0007g0336 a0001c0009t0010g0084 a0001c0009t0045g0298 a0001c0010t0002g0140 a0001c0014t0037g0011 a0001c0021t0001g0193 a0001c0023t0005g0289 a0001c0029t0007g0283 a0004c0034t0001g0002 a0006c0022t0052g0083	67	367	0.1826	22	c.-48 others(41): Show c.-48+28646_-48+28667dupCTCTCCCTCCGTCTCCCTCTCC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTCTTTTT others(15): Show CTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02145.hp1 HG02572.hp2 others(1): Show HG00609.hp1 HG02145.hp1 HG02572.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0004 a0001c0004t0010 a0001c0005t0008 a0001c0001t0004 a0001c0004t0010 a0001c0005t0008	a0001c0001t0004g0072 a0001c0001t0004g0127 a0001c0004t0010g0315 others(1): Show a0001c0001t0004g0072 a0001c0001t0004g0127 a0001c0004t0010g0315 a0001c0005t0008g0056	4	5	0.8000	22	c.-48 others(41): Show c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18977.hp2 NA19068.hp2 others(1): Show NA18974.hp2 NA18977.hp2 NA19068.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020	a0001c0001t0002g0301 a0001c0001t0004g0205 a0001c0001t0005g0211 others(1): Show a0001c0001t0002g0301 a0001c0001t0004g0205 a0001c0001t0005g0211 a0001c0001t0020g0021	4	5	0.8000	22	c.-48 others(41): Show c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522653	A A	AGAGAGGA others(15): Show AGAGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19062.hp2 HG04115.hp2 NA19062.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0009 a0001c0011t0003 a0001c0003t0009 a0001c0011t0003	a0001c0003t0009g0234 a0001c0011t0003g0268 a0001c0003t0009g0234 a0001c0011t0003g0268	2	368	0.0054	22	c.-47 others(39): Show c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAAAGA others(15): Show GAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18906.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0255 a0001c0013t0015g0258	2	137	0.0146	22	c.-47 others(39): Show c.-47-3668_-47-3667insGAAAGAAAGAAAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp2 HG01981.hp2 others(3): Show HG00741.hp1 HG01256.hp2 HG01981.hp2 HG01993.hp1 NA18954.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0004t0004 a0001c0007t0001	a0001c0001t0002g0282 a0001c0002t0001g0212 a0001c0002t0006g0148 others(3): Show a0001c0001t0002g0282 a0001c0002t0001g0212 a0001c0002t0006g0148 a0001c0002t0006g0279 a0001c0004t0004g0216 a0001c0007t0001g0302	6	141	0.0426	22	c.-47 others(39): Show c.-47-3672_-47-3671insGAGAGAGAAAGAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0064 a0001c0016t0005g0064	1	129	0.0078	22	c.149 others(41): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0108 a0001c0007t0013g0137 a0001c0007t0013g0108 a0001c0007t0013g0137	2	93	0.0215	22	c.149 others(39): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40569961	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA21309.hp1 HG02145.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0198 a0002c0003t0001g0199	2	231	0.0087	22	c.702 others(39): Show c.7026+248_7026+249insCACACACAGACACACACACACA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp2 HG02155.hp1 HG00609.hp2 HG01192.hp2 HG02155.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0021 a0002c0053 a0016c0050 a0001c0021 a0002c0053 a0016c0050	a0001c0021t0004 a0002c0053t0001 a0016c0050t0017 a0001c0021t0004 a0002c0053t0001 a0016c0050t0017	a0001c0021t0004g0039 a0002c0053t0001g0061 a0016c0050t0017g0042 a0001c0021t0004g0039 a0002c0053t0001g0061 a0016c0050t0017g0042	3	153	0.0196	22	c.660 others(41): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(15): Show CTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	26	0.0385	22	c.130 others(41): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534588	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG01071.hp1 others(33): Show HG00438.hp1 HG00621.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp1 HG01981.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02738.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp1 HG06807.hp2 NA18747.hp2 NA18945.hp2 NA18966.hp2 NA18981.hp1 NA19030.hp1 NA19066.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0026 a0001c0001t0027 a0001c0001t0035 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0003t0001 a0001c0006t0018 a0001c0006t0022	a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 others(33): Show a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0129 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0003g0143 a0001c0001t0006g0154 a0001c0001t0012g0225 a0001c0001t0012g0227 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0026g0159 a0001c0001t0027g0135 a0001c0001t0035g0122 a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0049g0232 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0021 a0001c0006t0018g0017 a0001c0006t0022g0004	36	54	0.6667	22	c.130 others(43): Show c.1304-13008_1304-13007insGTGTGTGTGTGTGTGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462894	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	133	0.0075	22	c.-68 others(31): Show c.-688_-687insTGTGTGTGTGTGTGTGTGTGTG	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		655		chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369286	T T	TTTTCTTT others(15): Show TTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19056.hp1 HG00597.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0109 a0001c0001t0002g0001 a0001c0001t0002g0109	2	369	0.0054	22	c.-12 others(41): Show c.-126+2148_-126+2149insGAGAAAGAAAGAAAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTSSB_chr3_161339798_161376517	161369352	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18951.hp1 NA19007.hp1 HG02615.hp1 NA18951.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0003 a0001c0001t0001g0030	3	245	0.0122	22	c.-12 others(41): Show c.-126+2082_-126+2083insAAGAAAGAAAGAAAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp2 others(30): Show HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00642.hp2 HG00738.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02523.hp1 HG02622.hp1 HG02738.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp2 NA18939.hp1 NA18954.hp2 NA18963.hp2 NA18964.hp1 NA18980.hp2 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA19007.hp2 NA19064.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0003 a0010c0012 a0001c0001 a0002c0003 a0010c0012	a0001c0001t0001 a0001c0001t0029 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0029 a0002c0003t0001 a0002c0003t0016 a0010c0012t0001	a0001c0001t0001g0045 a0001c0001t0001g0262 a0001c0001t0001g0354 others(26): Show a0001c0001t0001g0045 a0001c0001t0001g0262 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0029g0365 a0002c0003t0001g0007 a0002c0003t0001g0013 a0002c0003t0001g0048 a0002c0003t0001g0054 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0074 a0002c0003t0001g0078 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0090 a0002c0003t0001g0097 a0002c0003t0001g0099 a0002c0003t0016g0084 a0010c0012t0001g0126	33	232	0.1422	22	c.61- others(37): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622097	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	442	0.0023	22	c.61- others(37): Show c.61-5109_61-5108insGTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125025829	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	1	373	0.0027	22	c.38 others(33): Show c.3884_*3885insACACACACACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3547		chr8	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02486.hp2 others(3): Show HG01891.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp2 HG02818.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0003 a0001c0003t0001 a0001c0001t0004 a0001c0002t0003 a0001c0003t0001	a0001c0001t0004g0032 a0001c0001t0004g0066 a0001c0001t0004g0068 others(3): Show a0001c0001t0004g0032 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0083 a0001c0002t0003g0078 a0001c0003t0001g0014	6	199	0.0302	22	c.38 others(33): Show c.3888_*3889insACACACACACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG01070.hp2 others(7): Show HG00323.hp2 HG00597.hp1 HG01070.hp2 HG01517.hp2 HG03831.hp2 HG03927.hp1 NA18612.hp1 NA18946.hp1 NA19005.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0103 others(7): Show a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0196 a0001c0001t0001g0259 a0001c0003t0001g0080 a0002c0002t0001g0085 a0002c0002t0001g0172 a0002c0002t0001g0211	10	67	0.1493	22	c.-92 others(31): Show c.-928_-927insTATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45661289	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	121	0.0083	22	c.235 others(37): Show c.235-666_235-665insAAAAAAAAAAAAAAAAAAAAAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	2/9			chr15	TogoVar
SRARP_chr1_15999236_16013807	16006331	T T	TGGGCAGG others(15): Show TGGGCAGGCCGATTAGCTGGAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02559.hp2 others(3): Show HG02145.hp1 HG02145.hp2 HG02559.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0012 a0001c0005t0013 a0001c0005t0011 a0001c0005t0012 a0001c0005t0013	a0001c0005t0011g0011 a0001c0005t0012g0019 a0001c0005t0013g0011 a0001c0005t0011g0011 a0001c0005t0012g0019 a0001c0005t0013g0011	6	398	0.0151	22	c.498 others(28): Show c.498_*9dupGCAGGCCGATTAGCTGGAAGGG	SRARP	ENSG00000183888.4	transcript	ENST00000329454.2	protein_coding	2/2	10	INFO_REALIGN_3_PRIME	chr1	TogoVar
SRC_chr20_37341140_37411050	37386256	T T	TCAGGGCA others(15): Show TCAGGGCAGCACAGTGCAGAGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0263 a0001c0004t0048g0263	1	280	0.0036	22	c.350 others(36): Show c.350+91_350+112dupCACAGTGCAGAGCCCAGGGCAG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02723.hp2 HG02129.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0226 a0001c0001t0001g0017 a0001c0001t0003g0226	2	195	0.0103	22	c.91+ others(37): Show c.91+7521_91+7522insATATATATTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02622.hp1 others(5): Show HG02486.hp2 HG02615.hp1 HG02622.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0013 a0001c0003t0039 a0001c0003t0010 a0001c0003t0013 a0001c0003t0039	a0001c0003t0010g0055 a0001c0003t0010g0056 a0001c0003t0010g0057 others(5): Show a0001c0003t0010g0055 a0001c0003t0010g0056 a0001c0003t0010g0057 a0001c0003t0010g0058 a0001c0003t0010g0060 a0001c0003t0013g0016 a0001c0003t0013g0054 a0001c0003t0039g0061	8	111	0.0721	22	c.278 others(37): Show c.278+553_278+554insAAAAAAAAAATATATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0088 a0001c0003t0014g0088	1	104	0.0096	22	c.278 others(37): Show c.278+553_278+554insAAAAAAAAAAAAAATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02965.hp1 HG00741.hp2 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0039 a0001c0003t0005g0044 a0001c0003t0005g0039 a0001c0003t0005g0044	2	277	0.0072	22	c.206 others(39): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(15): Show CACACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG03098.hp2 NA18945.hp2 HG01433.hp2 HG03098.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0139 a0001c0001t0001g0169 a0001c0001t0003g0115 a0001c0001t0001g0139 a0001c0001t0001g0169 a0001c0001t0003g0115	3	75	0.0400	22	c.-28 others(31): Show c.-287_-286insACACACACACACACACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63919499	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0089 a0001c0002t0016g0089	1	64	0.0156	22	c.68- others(39): Show c.68-64446_68-64425dupTATATATATATATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03834.hp1 HG03540.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0054 a0001c0002t0048 a0001c0002t0054	a0001c0002t0048g0088 a0001c0002t0054g0046 a0001c0002t0048g0088 a0001c0002t0054g0046	2	16	0.1250	22	c.490 others(39): Show c.490-3151_490-3130dupGTGTGTGTGTGTGTGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0048 a0001c0002t0045g0048	1	61	0.0164	22	c.801 others(39): Show c.801+1103_801+1124dupTTTTTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121285404	T T	TCTCTCAC others(15): Show TCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0001 a0003c0004t0018g0002 a0003c0004t0018g0001 a0003c0004t0018g0002	2	120	0.0167	22	c.260 others(37): Show c.260+410_260+411insTCTCACACACACACACACACAC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA20129.hp1 HG02630.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0029 a0001c0006t0009 a0001c0003t0029 a0001c0006t0009	a0001c0003t0029g0171 a0001c0006t0009g0001 a0001c0003t0029g0171 a0001c0006t0009g0001	2	52	0.0385	22	c.68- others(39): Show c.68-23682_68-23681insTTTTTTTTTTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9123732	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02145.hp1 HG02572.hp2 others(7): Show HG00544.hp1 HG02145.hp1 HG02572.hp2 HG02615.hp2 HG02818.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 NA18993.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0002c0010 a0002c0014 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0003t0018 a0001c0009t0012 a0002c0010t0001 a0002c0014t0029 a0003c0008t0002	a0001c0001t0001g0163 a0001c0001t0002g0016 a0001c0001t0003g0173 others(7): Show a0001c0001t0001g0163 a0001c0001t0002g0016 a0001c0001t0003g0173 a0001c0001t0005g0076 a0001c0001t0017g0098 a0001c0003t0018g0079 a0001c0009t0012g0068 a0002c0010t0001g0032 a0002c0014t0029g0038 a0003c0008t0002g0140	10	131	0.0763	22	c.260 others(37): Show c.260+971_260+992dupCACACACACACACACACACACA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9214122	A A	ACACACAC others(15): Show ACACACACACACACACACACATG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0217 a0001c0001t0037g0217	1	226	0.0044	22	c.67+ others(39): Show c.67+34741_67+34762dupCATGTGTGTGTGTGTGTGTGTG	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRL_chr16_4184374_4247080	4220278	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	114	0.0088	22	c.62- others(39): Show c.62-15666_62-15645dupGTGTGTGTGTGTGTGTGTGTGT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRP68_chr17_76033785_76077517	76070850	G G	GCACATGC others(15): Show GCACATGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	123	0.0081	22	c.185 others(37): Show c.185-407_185-406insTGTGTGTGTGTGTGTGCATGTG	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0197 a0001c0004t0004g0197	1	134	0.0075	22	c.958 others(37): Show c.958-706_958-685dupTTTTTTTTTTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar

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