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
SPTLC3_chr20_13003972_13174103	13080511	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(60): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01243.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02074.hp2 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02738.hp1 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18990.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19030.hp1 NA19057.hp1 NA19063.hp1 NA19077.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0004c0008 a0006c0016 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0045 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0003t0006 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0029 a0002c0002t0002 a0004c0008t0028 a0006c0016t0064 a0008c0015t0002	a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0134 others(60): Show a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0003g0070 a0001c0001t0003g0112 a0001c0001t0003g0179 a0001c0001t0003g0191 a0001c0001t0004g0218 a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0251 a0001c0001t0004g0266 a0001c0001t0004g0273 a0001c0001t0007g0216 a0001c0001t0007g0220 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0008g0005 a0001c0001t0010g0215 a0001c0001t0013g0060 a0001c0001t0015g0223 a0001c0001t0015g0224 a0001c0001t0015g0256 a0001c0001t0019g0160 a0001c0001t0020g0138 a0001c0001t0045g0163 a0001c0001t0051g0075 a0001c0001t0054g0286 a0001c0001t0055g0287 a0001c0001t0056g0253 a0001c0001t0057g0281 a0001c0001t0059g0290 a0001c0003t0006g0039 a0001c0003t0010g0271 a0001c0003t0010g0272 a0001c0003t0010g0277 a0001c0003t0010g0282 a0001c0003t0010g0289 a0001c0003t0011g0082 a0001c0003t0012g0217 a0001c0003t0012g0222 a0001c0003t0012g0245 a0001c0003t0029g0275 a0001c0003t0029g0283 a0002c0002t0002g0007 a0004c0008t0028g0276 a0006c0016t0064g0248 a0008c0015t0002g0050	63	161	0.3913	13	c.607 others(30): Show c.607+6024_607+6025insAAAAAAAAAAAAA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34435623	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0274 a0001c0001t0011g0274	1	146	0.0068	13	c.113 others(28): Show c.113-332_113-320dupAAAAAAAAAAAAA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	241	0.0041	13	c.113 others(30): Show c.113-7831_113-7830insACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01255.hp2 others(28): Show HG01106.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01978.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18953.hp2 NA18957.hp2 NA19030.hp2 NA19056.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0007 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0282 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0300 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0004g0038 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0297 a0001c0005t0007g0371 a0002c0003t0001g0092	31	230	0.1348	13	c.61- others(28): Show c.61-5110_61-5098dupTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622101	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00673.hp1 others(33): Show HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01981.hp1 HG02027.hp2 HG02300.hp2 HG02559.hp1 HG02738.hp1 HG02965.hp2 HG03139.hp2 HG03239.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18953.hp1 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18978.hp1 NA18981.hp1 NA19002.hp2 NA19060.hp2 NA19066.hp1 NA19078.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0004	a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 a0003c0004t0005	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0202 others(29): Show a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0002t0002g0020 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0120 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0145 a0001c0002t0002g0155 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0175 a0001c0002t0002g0180 a0001c0002t0002g0225 a0001c0002t0002g0238 a0001c0002t0002g0242 a0001c0002t0002g0247 a0001c0006t0001g0203 a0003c0004t0005g0022 a0003c0004t0005g0143 a0003c0004t0005g0146 a0003c0004t0005g0147 a0003c0004t0005g0148 a0003c0004t0005g0149 a0003c0004t0005g0152	36	288	0.1250	13	c.61- others(28): Show c.61-5113_61-5112insGTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125013356	C C	CTTTTTCT others(6): Show CTTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	183	0.0055	13	c.120 others(32): Show c.1204+1729_1204+1730insCTTTTCTTTTTTT	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SQLE_chr8_124993505_125027283	125013356	C C	CTTTTTCT others(6): Show CTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp1 others(14): Show HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02071.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp2 HG02735.hp2 HG02965.hp2 HG02976.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03942.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0015 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0015 a0001c0003t0001 a0001c0003t0010 a0001c0003t0019	a0001c0001t0001g0190 a0001c0002t0015g0072 a0001c0003t0001g0014 others(8): Show a0001c0001t0001g0190 a0001c0002t0015g0072 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0027 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0010g0195 a0001c0003t0019g0120	17	199	0.0854	13	c.120 others(32): Show c.1204+1729_1204+1730insCTTTTTTTTTTTT	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG02615.hp1 HG02630.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0161 a0005c0006t0001g0162 a0005c0006t0001g0161 a0005c0006t0001g0162	2	117	0.0171	13	c.130 others(32): Show c.1305+1677_1305+1689dupTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRCAP_chr16_30694171_30746409	30714507	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG03540.hp2 others(1): Show HG02145.hp1 HG02145.hp2 HG03540.hp2 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0021 a0001c0003 a0008c0021	a0001c0003t0002 a0008c0021t0002 a0001c0003t0002 a0008c0021t0002	a0001c0003t0002g0015 a0001c0003t0002g0104 a0008c0021t0002g0093 a0001c0003t0002g0015 a0001c0003t0002g0104 a0008c0021t0002g0093	4	19	0.2105	13	c.249 others(30): Show c.2493+808_2493+809insTTTTTTTTTTTTT	SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	16/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	194	0.0052	13	c.91+ others(28): Show c.91+7521_91+7522insATATTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF2_chr22_41828105_41912305	41862026	G G	GTATTTAA others(6): Show GTATTTAACAAATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG02886.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0055 a0002c0002t0003g0056	2	334	0.0060	13	c.89- others(28): Show c.89-4805_89-4804insTATTTAACAAATA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18			chr22	TogoVar
SREK1_chr5_66139300_66188615	66184223	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG03130.hp1 NA19078.hp2 HG01928.hp1 HG03130.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0145 a0001c0001t0002g0142 a0001c0001t0001g0020 a0001c0001t0001g0145 a0001c0001t0002g0142	3	11	0.2727	13	c.53 others(24): Show c.5355_*5356insTTTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding		609		chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01496.hp2 others(28): Show HG00597.hp1 HG00597.hp2 HG01496.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03669.hp2 NA18941.hp1 NA18950.hp1 NA18952.hp2 NA18972.hp2 NA18978.hp2 NA19000.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020	a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0061 others(6): Show a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0005g0004 a0001c0001t0008g0037 a0001c0001t0010g0021 a0001c0001t0014g0004 a0001c0001t0018g0041 a0001c0001t0020g0004	31	203	0.1527	13	c.116 others(30): Show c.1162+566_1162+578dupTTTTTTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRF_chr6_43166269_43186506	43177245	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	354	0.0028	13	c.116 others(30): Show c.1162+578_1162+579insTTTTTTTTTTTTC	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6			chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63861303	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0067 a0001c0001t0105g0067	1	119	0.0084	13	c.67+ others(30): Show c.67+16420_67+16421insATATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21			chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63951152	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp1 HG02895.hp1 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0008 a0003c0005t0137 a0001c0002t0008 a0003c0005t0137	a0001c0002t0008g0096 a0003c0005t0137g0047 a0001c0002t0008g0096 a0003c0005t0137g0047	2	21	0.0952	13	c.68- others(30): Show c.68-32778_68-32766dupTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63954688	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18906.hp1 NA18988.hp1 HG02486.hp2 NA18906.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0022 a0001c0002t0055 a0001c0002t0003 a0001c0002t0022 a0001c0002t0055	a0001c0002t0003g0161 a0001c0002t0022g0170 a0001c0002t0055g0061 a0001c0002t0003g0161 a0001c0002t0022g0170 a0001c0002t0055g0061	3	104	0.0288	13	c.68- others(30): Show c.68-29255_68-29254insAAAAAAAAGAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG03453.hp1 others(1): Show HG02886.hp2 HG02895.hp1 HG03453.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0129 a0001c0001t0142 a0003c0005t0137 others(1): Show a0001c0001t0129 a0001c0001t0142 a0003c0005t0137 a0003c0005t0138	a0001c0001t0129g0165 a0001c0001t0142g0007 a0003c0005t0137g0047 others(1): Show a0001c0001t0129g0165 a0001c0001t0142g0007 a0003c0005t0137g0047 a0003c0005t0138g0169	4	64	0.0625	13	c.801 others(30): Show c.801+1112_801+1124dupTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64144836	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG03486.hp2 HG00558.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0079 a0001c0008t0130 a0001c0001t0079 a0001c0008t0130	a0001c0001t0079g0148 a0001c0008t0130g0020 a0001c0001t0079g0148 a0001c0008t0130g0020	2	60	0.0333	13	c.21 others(24): Show c.2178_*2190dupTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	2191	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64150934	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01257.hp1 HG01261.hp1 others(17): Show HG00639.hp1 HG01257.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG03239.hp1 HG03486.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18963.hp1 NA18967.hp2 NA18979.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0003c0005	a0001c0001t0007 a0001c0001t0069 a0001c0001t0075 others(16): Show a0001c0001t0007 a0001c0001t0069 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0093 a0001c0001t0105 a0001c0001t0106 a0001c0001t0110 a0001c0001t0111 a0001c0001t0115 a0001c0001t0118 a0001c0001t0127 a0001c0002t0012 a0001c0008t0130 a0003c0005t0134 a0003c0005t0136 a0003c0005t0137 a0003c0005t0138	a0001c0001t0007g0039 a0001c0001t0007g0077 a0001c0001t0069g0118 others(17): Show a0001c0001t0007g0039 a0001c0001t0007g0077 a0001c0001t0069g0118 a0001c0001t0075g0131 a0001c0001t0076g0080 a0001c0001t0077g0128 a0001c0001t0093g0052 a0001c0001t0105g0067 a0001c0001t0106g0055 a0001c0001t0110g0056 a0001c0001t0111g0138 a0001c0001t0115g0058 a0001c0001t0118g0106 a0001c0001t0127g0031 a0001c0002t0012g0145 a0001c0008t0130g0020 a0003c0005t0134g0162 a0003c0005t0136g0038 a0003c0005t0137g0047 a0003c0005t0138g0169	20	84	0.2381	13	c.82 others(24): Show c.8276_*8288dupAAAAAAAAAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	8289	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121180379	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG03225.hp2 others(1): Show HG02145.hp1 HG02717.hp1 HG03225.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0002c0002 a0009c0007 a0001c0003 a0002c0002 a0009c0007	a0001c0003t0004 a0002c0002t0017 a0009c0007t0052 a0001c0003t0004 a0002c0002t0017 a0009c0007t0052	a0001c0003t0004g0265 a0002c0002t0017g0031 a0002c0002t0017g0032 others(1): Show a0001c0003t0004g0265 a0002c0002t0017g0031 a0002c0002t0017g0032 a0009c0007t0052g0273	4	243	0.0165	13	c.-52 others(24): Show c.-5288_-5287insAAAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		4595		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121235626	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00621.hp1 others(66): Show HG00099.hp2 HG00140.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp1 HG02135.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG04115.hp1 HG04204.hp1 NA18941.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18981.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19084.hp1 NA19088.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0039 a0001c0001t0040 a0001c0001t0049 a0001c0001t0051 a0009c0007t0052	a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 others(66): Show a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0226 a0001c0001t0008g0249 a0001c0001t0011g0238 a0001c0001t0011g0239 a0001c0001t0011g0241 a0001c0001t0013g0119 a0001c0001t0013g0162 a0001c0001t0016g0109 a0001c0001t0039g0203 a0001c0001t0040g0112 a0001c0001t0049g0157 a0001c0001t0051g0166 a0009c0007t0052g0273	69	157	0.4395	13	c.67+ others(30): Show c.67+48116_67+48128dupTTTTTTTTTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239233	A A	ATATATAT others(6): Show ATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	270	0.0037	13	c.68- others(30): Show c.68-45557_68-45545dupCTATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239248	A A	ATATATAT others(6): Show ATATATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	272	0.0037	13	c.68- others(30): Show c.68-45543_68-45542insCTATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249580	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	244	0.0041	13	c.68- others(30): Show c.68-35222_68-35221insATATATATATATT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01358.hp2 others(5): Show HG00741.hp1 HG01167.hp2 HG01358.hp2 HG02809.hp1 NA18940.hp1 NA18962.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0039 a0001c0001t0041	a0001c0001t0001g0113 a0001c0001t0001g0200 a0001c0001t0001g0201 others(5): Show a0001c0001t0001g0113 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0007g0193 a0001c0001t0007g0195 a0001c0001t0011g0241 a0001c0001t0039g0203 a0001c0001t0041g0192	8	45	0.1778	13	c.423 others(30): Show c.423+6521_423+6533dupAAAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18970.hp2 HG02273.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0049 a0001c0002t0002g0011 a0001c0002t0002g0049	2	52	0.0385	13	c.68- others(30): Show c.68-23694_68-23682dupTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206359798	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 NA18947.hp1 others(1): Show HG02055.hp1 HG03041.hp1 NA18947.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0005 a0001c0003t0005 a0001c0003t0006 others(1): Show a0001c0002t0005 a0001c0003t0005 a0001c0003t0006 a0001c0007t0005	a0001c0002t0005g0064 a0001c0003t0005g0164 a0001c0003t0006g0175 others(1): Show a0001c0002t0005g0064 a0001c0003t0005g0164 a0001c0003t0006g0175 a0001c0007t0005g0138	4	39	0.1026	13	c.423 others(32): Show c.423+16804_423+16816dupTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9006410	A A	AAAGAAAA others(6): Show AAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0212 a0001c0003t0007g0212	1	222	0.0045	13	c.222 others(32): Show c.2227+3897_2227+3898insCTTTTCTTTTCTT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	18/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9212071	A A	AGTATATT others(6): Show AGTATATTCTGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(106): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03516.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18950.hp2 NA18957.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19063.hp1 NA19067.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0012 a0001c0017 a0002c0010 a0002c0014 a0003c0008 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0001t0051 a0001c0001t0052 a0001c0002t0004 a0001c0002t0010 a0001c0003t0007 a0001c0003t0014 a0001c0003t0018 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0009t0012 a0001c0012t0001 a0001c0017t0014 a0002c0010t0001 a0002c0014t0029 a0003c0008t0002 a0005c0015t0001	a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0024 others(106): Show a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0003g0013 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0181 a0001c0001t0003g0195 a0001c0001t0003g0207 a0001c0001t0004g0036 a0001c0001t0004g0073 a0001c0001t0004g0128 a0001c0001t0005g0228 a0001c0001t0006g0030 a0001c0001t0006g0114 a0001c0001t0006g0209 a0001c0001t0007g0035 a0001c0001t0008g0064 a0001c0001t0008g0086 a0001c0001t0008g0191 a0001c0001t0009g0179 a0001c0001t0015g0041 a0001c0001t0015g0154 a0001c0001t0017g0133 a0001c0001t0019g0124 a0001c0001t0021g0129 a0001c0001t0021g0189 a0001c0001t0024g0216 a0001c0001t0024g0218 a0001c0001t0025g0040 a0001c0001t0027g0004 a0001c0001t0028g0213 a0001c0001t0031g0122 a0001c0001t0037g0217 a0001c0001t0039g0196 a0001c0001t0040g0023 a0001c0001t0042g0186 a0001c0001t0044g0160 a0001c0001t0048g0165 a0001c0001t0051g0190 a0001c0001t0052g0188 a0001c0002t0004g0037 a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003 a0001c0003t0007g0212 a0001c0003t0014g0136 a0001c0003t0018g0039 a0001c0006t0001g0192 a0001c0006t0002g0029 a0001c0006t0006g0151 a0001c0009t0012g0034 a0001c0012t0001g0169 a0001c0017t0014g0219 a0002c0010t0001g0032 a0002c0014t0029g0038 a0003c0008t0002g0177 a0005c0015t0001g0193	109	226	0.4823	13	c.67+ others(30): Show c.67+36813_67+36814insATACAGAATATAC	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRGN_chr10_69083103_69109805	69091879	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	296	0.0034	13	c.79+ others(28): Show c.79+3660_79+3672dupAAAAAAAAAAAAA	SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG01891.hp2 others(20): Show HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0009 a0001c0001 a0001c0004 a0002c0009	a0001c0001t0001 a0001c0004t0001 a0002c0009t0001 a0001c0001t0001 a0001c0004t0001 a0002c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0055 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0004t0001g0031 a0001c0004t0001g0061 a0002c0009t0001g0059	23	91	0.2527	13	c.211 others(28): Show c.211-274_211-262dupTTTTTTTTTTTTT	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GGAAAAAA others(6): Show GGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(96): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01346.hp1 HG01496.hp2 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp2 HG03704.hp2 HG03834.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0025 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0006g0039	99	167	0.5928	13	c.211 others(28): Show c.211-262_211-261insTTTTTTTTTTTTC	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP68_chr17_76033785_76077517	76070880	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18969.hp1 NA18964.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0041 a0001c0001t0006g0042 a0001c0001t0002g0041 a0001c0001t0006g0042	2	359	0.0056	13	c.185 others(28): Show c.185-437_185-436insGTGTGTGTGTGTG	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56477297	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0276 a0001c0002t0005g0276	1	293	0.0034	13	c.642 others(28): Show c.642+596_642+597insTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP72_chr4_56462617_56508681	56477299	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG03516.hp2 HG02451.hp1 HG02717.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0212 a0001c0001t0010g0213 a0001c0001t0010g0214 a0001c0001t0010g0212 a0001c0001t0010g0213 a0001c0001t0010g0214	3	229	0.0131	13	c.642 others(28): Show c.642+598_642+599insTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	134	0.0075	13	c.958 others(28): Show c.958-697_958-685dupTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP9_chr1_225772826_225795464	225784229	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	23	0.0435	13	c.141 others(28): Show c.141+884_141+896dupTTTTTTTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35830704	G G	GTGTTTTT others(6): Show GTGTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0297 a0001c0002t0002g0297	1	136	0.0074	13	c.45 others(24): Show c.4599_*4600insAAAAAAAAAAACA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		2261		chr6	TogoVar
SRPK2_chr7_105111374_105393921	105124640	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp2 HG01069.hp1 others(25): Show HG00621.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02071.hp1 HG02165.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp2 NA18612.hp1 NA18975.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0080 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0002g0130 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0280	28	101	0.2772	13	c.191 others(32): Show c.1915+1595_1915+1607dupTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	15/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02922.hp2 HG03710.hp2 others(2): Show HG01255.hp2 HG02922.hp2 HG03710.hp2 HG04199.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0228 a0001c0001t0001g0230 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0268 a0001c0001t0002g0259	5	157	0.0318	13	c.621 others(30): Show c.621+1046_621+1058dupTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105247531	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	65	0.0154	13	c.72- others(30): Show c.72-43747_72-43746insGTGTGTGTGTGTG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105287259	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0113 a0001c0002t0003g0113	1	268	0.0037	13	c.72- others(30): Show c.72-83487_72-83475dupTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105331308	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	39	0.0256	13	c.71+ others(30): Show c.71+57327_71+57339dupTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105359150	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18955.hp1 HG03017.hp2 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0113 a0001c0002t0003g0042 a0001c0002t0003g0113	2	36	0.0556	13	c.71+ others(30): Show c.71+29485_71+29497dupAAAAAAAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105364405	G G	GAGTTTTT others(6): Show GAGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	176	0.0057	13	c.71+ others(30): Show c.71+24242_71+24243insAAAAAAAAAAACT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105364405	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02293.hp1 NA19079.hp2 HG02080.hp2 HG02293.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0047 a0001c0001t0004g0062 a0001c0001t0004g0064	3	178	0.0169	13	c.71+ others(30): Show c.71+24230_71+24242dupAAAAAAAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105383052	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	20	0.0500	13	c.71+ others(28): Show c.71+5595_71+5596insAAAAAAAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105389053	G G	GCCCAGCG others(6): Show GCCCAGCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	1	277	0.0036	13	c.-24 others(22): Show c.-248_-247insGCGGGGCGCTGGG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding		133		chr7	TogoVar
SRPK3_chrX_153776041_153790730	153789545	G G	GAAAGAAC others(6): Show GAAAGAACGCAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	305	0.0033	13	c.40 others(24): Show c.4025_*4026insAAAGAACGCAAGA	SRPK3	ENSG00000184343.11	transcript	ENST00000370101.8	protein_coding		3816		chrX	TogoVar

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