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
SPNS3_chr17_4428940_4493204	4468758	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0107 a0003c0005t0001g0107	1	357	0.0028	15	c.111 others(34): Show c.1114-9810_1114-9809insTTCTTTCTTTCTTCT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4472774	C C	CATTTTTT others(8): Show CATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0031 a0001c0009t0002g0031	1	12	0.0833	15	c.111 others(34): Show c.1114-5798_1114-5797insATTTTTTTTTTTTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11			chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31803032	G G	GGGAAGAA others(8): Show GGGAAGAAGAGCAACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(171): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18943.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0009 a0010 a0011 a0013 a0015 a0016 a0017 a0020 a0021 a0022 a0023	a0001c0001 a0001c0006 a0001c0009 others(16): Show a0001c0001 a0001c0006 a0001c0009 a0001c0015 a0001c0023 a0002c0002 a0003c0003 a0005c0005 a0009c0025 a0010c0018 a0011c0020 a0013c0021 a0015c0016 a0016c0017 a0017c0024 a0020c0026 a0021c0027 a0022c0022 a0023c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0001c0009t0001 a0001c0015t0001 a0001c0023t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001 a0009c0025t0001 a0010c0018t0001 a0011c0020t0001 a0013c0021t0002 a0015c0016t0001 a0016c0017t0001 a0017c0024t0002 a0020c0026t0001 a0021c0027t0002 a0022c0022t0001 a0023c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(167): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0003g0005 a0001c0006t0001g0154 a0001c0006t0001g0159 a0001c0006t0001g0160 a0001c0006t0001g0161 a0001c0009t0001g0246 a0001c0009t0001g0248 a0001c0009t0001g0249 a0001c0015t0001g0167 a0001c0023t0001g0250 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0175 a0002c0002t0001g0179 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0221 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0002g0071 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0237 a0002c0002t0002g0238 a0003c0003t0001g0138 a0005c0005t0001g0009 a0005c0005t0001g0010 a0005c0005t0001g0011 a0005c0005t0001g0024 a0009c0025t0001g0253 a0010c0018t0001g0198 a0011c0020t0001g0244 a0013c0021t0002g0245 a0015c0016t0001g0054 a0016c0017t0001g0034 a0017c0024t0002g0251 a0020c0026t0001g0252 a0021c0027t0002g0254 a0022c0022t0001g0247 a0023c0019t0001g0204	174	258	0.6744	15	c.138 others(34): Show c.1384-1328_1384-1327insTGTTGCTCTTCTTCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	35	0.0286	15	c.-12 others(26): Show c.-1200_-1199insAAAAAAAAATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	35	0.0286	15	c.-12 others(26): Show c.-1200_-1199insAAAAAAAAAAAAATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	136984384	G G	GAATAATT others(8): Show GAATAATTCTGTATTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01071.hp1 others(37): Show HG00280.hp1 HG00280.hp2 HG01071.hp1 HG01071.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01981.hp2 HG02109.hp1 HG02135.hp2 HG02155.hp1 HG02451.hp2 HG02572.hp2 HG02698.hp2 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18972.hp1 NA18983.hp1 NA19007.hp1 NA19074.hp2 NA19084.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(12): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0002t0005 a0001c0002t0014 a0001c0003t0015 a0001c0004t0006	a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0023 others(37): Show a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0081 a0001c0001t0005g0098 a0001c0001t0005g0103 a0001c0001t0005g0125 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0149 a0001c0001t0009g0025 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0089 a0001c0001t0015g0099 a0001c0001t0020g0004 a0001c0001t0023g0088 a0001c0001t0024g0066 a0001c0001t0026g0085 a0001c0001t0028g0127 a0001c0001t0029g0123 a0001c0001t0033g0150 a0001c0002t0005g0111 a0001c0002t0005g0121 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0014g0008 a0001c0002t0014g0017 a0001c0003t0015g0093 a0001c0004t0006g0037	40	152	0.2632	15	c.991 others(30): Show c.991+741_991+755dupTAATACAGAATTATT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	9/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0038 a0001c0001t0010g0038	1	63	0.0159	15	c.347 others(32): Show c.347+8590_347+8591insATATTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0081 a0001c0002t0001g0049 a0001c0001t0003g0081 a0001c0002t0001g0049	2	64	0.0313	15	c.347 others(32): Show c.347+8590_347+8591insATATATTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	62	0.0161	15	c.590 others(32): Show c.590-7909_590-7895dupTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166847647	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	42	0.0238	15	c.589 others(34): Show c.589+41482_589+41483insTATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14011476	C C	CCCCCTAT others(8): Show CCCCCTATAGTTTAGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	219	0.0046	15	c.345 others(34): Show c.345+28524_345+28538dupCCCCTATAGTTTAGG	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14057831	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18947.hp2 HG02630.hp1 NA18947.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0117 a0001c0004t0002g0074 a0001c0004t0001g0117 a0001c0004t0002g0074	2	186	0.0108	15	c.479 others(34): Show c.479+16189_479+16190insAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14057833	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00642.hp1 others(28): Show HG00280.hp1 HG00558.hp2 HG00642.hp1 HG01099.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG02040.hp1 HG02074.hp1 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp1 HG03492.hp2 NA18612.hp2 NA18946.hp2 NA18954.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA19007.hp1 NA19066.hp1 NA19074.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0017 a0001c0004t0001	a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0143 others(28): Show a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0058 a0001c0001t0002g0135 a0001c0001t0002g0152 a0001c0001t0002g0165 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0004g0188 a0001c0001t0004g0196 a0001c0001t0004g0205 a0001c0002t0001g0118 a0001c0002t0001g0155 a0001c0002t0003g0180 a0001c0002t0003g0197 a0001c0002t0007g0204 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0002g0103 a0001c0003t0017g0073 a0001c0004t0001g0067 a0001c0004t0001g0070 a0001c0004t0001g0081 a0001c0004t0001g0096	31	213	0.1455	15	c.479 others(34): Show c.479+16189_479+16190insAAAACAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14057833	A A	AAAAAAAA others(8): Show AAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19063.hp1 NA18998.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0206 a0001c0001t0001g0001 a0001c0001t0003g0206	2	184	0.0109	15	c.479 others(34): Show c.479+16187_479+16188insCAAAAACAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14057837	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	215	0.0047	15	c.479 others(34): Show c.479+16189_479+16190insAAAAAAAACAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14144633	C C	CTAATAAT others(8): Show CTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18998.hp1 NA19090.hp1 HG02976.hp1 NA18998.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0129 a0001c0001t0007g0210 a0001c0002t0001g0036 a0001c0001t0001g0129 a0001c0001t0007g0210 a0001c0002t0001g0036	3	142	0.0211	15	c.825 others(32): Show c.825+9065_825+9066insTAATAATAATAATAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15			chr11	TogoVar
SPON1_chr11_13957723_14273133	14144634	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	30	0.0333	15	c.825 others(32): Show c.825+9088_825+9102dupAATAATAATAATAAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160739	A A	ATATATAT others(8): Show ATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	121	0.0083	15	c.825 others(34): Show c.825+25171_825+25172insTATATATTTATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15			chr11	TogoVar
SPON1_chr11_13957723_14273133	14271972	C C	CTGCAGTT others(8): Show CTGCAGTTCAGGTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0111 a0001c0011t0001g0111	1	222	0.0045	15	c.62 others(26): Show c.6285_*6286insTGCAGTTCAGGTCTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		3840		chr11	TogoVar
SPON1_chr11_13957723_14273133	14272693	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0046 a0002c0005t0001g0046	1	216	0.0046	15	c.70 others(26): Show c.7006_*7007insAAAAAAAAAAAAAAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4561		chr11	TogoVar
SPP1_chr4_87970714_87988411	87986460	T T	TAAATTTA others(8): Show TAAATTTAATTTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(68): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0003 a0003c0004 a0010c0015	a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 a0001c0006t0001 a0002c0003t0004 a0003c0004t0001 a0003c0004t0008 a0010c0015t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0023 others(30): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0010g0006 a0001c0005t0001g0027 a0001c0005t0001g0031 a0001c0005t0001g0045 a0001c0005t0001g0080 a0001c0005t0001g0085 a0001c0006t0001g0041 a0001c0006t0001g0042 a0001c0006t0001g0061 a0002c0003t0004g0012 a0002c0003t0004g0013 a0002c0003t0004g0087 a0002c0003t0004g0088 a0002c0003t0004g0089 a0003c0004t0001g0021 a0003c0004t0001g0037 a0003c0004t0001g0056 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0008g0021 a0010c0015t0001g0018	71	434	0.1636	15	c.35 others(26): Show c.3564_*3565insAAATTTAATTTCACA	SPP1	ENSG00000118785.15	transcript	ENST00000395080.8	protein_coding		3050		chr4	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(8): Show ATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0248 a0002c0002t0040g0248	1	202	0.0050	15	c.44 others(26): Show c.4443_*4444insATATATATATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(8): Show ATATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0172 a0001c0003t0014g0172	1	202	0.0050	15	c.44 others(26): Show c.4443_*4444insAAAAATATATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50757089	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp1 others(99): Show HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG03130.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0004 a0004c0005 others(1): Show a0001c0001 a0003c0004 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0044 a0001c0001t0082 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0003c0004t0002 a0004c0005t0032 a0005c0006t0084	a0001c0001t0001g0159 a0001c0001t0002g0008 a0001c0001t0002g0009 others(97): Show a0001c0001t0001g0159 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0003g0192 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0265 a0001c0001t0008g0274 a0001c0001t0008g0293 a0001c0001t0008g0297 a0001c0001t0008g0298 a0001c0001t0008g0311 a0001c0001t0008g0316 a0001c0001t0008g0317 a0001c0001t0009g0126 a0001c0001t0009g0197 a0001c0001t0009g0206 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0001t0014g0018 a0001c0001t0015g0224 a0001c0001t0015g0231 a0001c0001t0016g0188 a0001c0001t0020g0190 a0001c0001t0020g0191 a0001c0001t0021g0284 a0001c0001t0021g0301 a0001c0001t0022g0310 a0001c0001t0023g0285 a0001c0001t0023g0291 a0001c0001t0023g0300 a0001c0001t0031g0235 a0001c0001t0033g0230 a0001c0001t0035g0278 a0001c0001t0035g0290 a0001c0001t0036g0253 a0001c0001t0036g0254 a0001c0001t0037g0205 a0001c0001t0041g0247 a0001c0001t0044g0158 a0001c0001t0082g0202 a0001c0001t0085g0227 a0001c0001t0086g0204 a0001c0001t0089g0201 a0001c0001t0090g0214 a0001c0001t0096g0286 a0001c0001t0097g0276 a0001c0001t0099g0288 a0001c0001t0102g0263 a0001c0001t0103g0321 a0001c0001t0104g0305 a0001c0001t0105g0315 a0001c0001t0106g0319 a0001c0001t0107g0322 a0003c0004t0002g0325 a0004c0005t0032g0232 a0005c0006t0084g0208	102	255	0.4000	15	c.67- others(30): Show c.67-7344_67-7343insAAAAAAAAAAAAAAA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	1/14			chr15	TogoVar
SPPL2B_chr19_2323684_2360095	2353311	G G	GCCTGTCC others(8): Show GCCTGTCCGTCCCCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0010 a0001c0004t0029g0010	1	412	0.0024	15	c.10 others(24): Show c.102_*103insCCTGTCCGTCCCCGC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	15/15	103		chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2359793	A A	ACACACAC others(8): Show ACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0161 a0002c0007t0003g0161	1	411	0.0024	15	c.65 others(26): Show c.6584_*6585insCACACACACACACAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding		4699		chr19	TogoVar
SPPL3_chr12_120757510_120909358	120779992	C C	CATCTCAA others(8): Show CATCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01243.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0037 a0001c0001t0031 a0001c0001t0037	a0001c0001t0031g0219 a0001c0001t0037g0220 a0001c0001t0031g0219 a0001c0001t0037g0220	2	318	0.0063	15	c.502 others(32): Show c.502+2648_502+2662dupTTTTTTTTTTGAGAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	6/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120824474	A A	AGTTCTAT others(8): Show AGTTCTATAGCAGAAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0104 a0001c0002t0006g0104	1	318	0.0031	15	c.24- others(32): Show c.24-13603_24-13589dupATTCTGCTATAGAAC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38293099	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0348 a0001c0001t0004g0348	1	21	0.0476	15	c.33- others(30): Show c.33-6269_33-6255dupTTTTTTTTTTTTTTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED1_chr15_38247836_38362249	38310115	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	352	0.0028	15	c.207 others(34): Show c.207+10568_207+10569insGTGTGTGTGTGTGTG	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6			chr15	TogoVar
SPRED1_chr15_38247836_38362249	38360847	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01109.hp1 others(31): Show HG00408.hp1 HG00642.hp1 HG01109.hp1 HG01123.hp2 HG01891.hp2 HG02132.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03486.hp1 HG03486.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18953.hp1 NA18983.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA19011.hp1 NA19012.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19076.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 others(6): Show a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0019 a0001c0002t0020 a0001c0002t0027	a0001c0001t0009g0309 a0001c0001t0009g0310 a0001c0001t0009g0311 others(30): Show a0001c0001t0009g0309 a0001c0001t0009g0310 a0001c0001t0009g0311 a0001c0001t0009g0313 a0001c0001t0009g0316 a0001c0001t0009g0317 a0001c0001t0010g0086 a0001c0001t0010g0217 a0001c0001t0010g0218 a0001c0002t0003g0003 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0032 a0001c0002t0003g0035 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0049 a0001c0002t0003g0051 a0001c0002t0003g0054 a0001c0002t0003g0061 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0008g0163 a0001c0002t0008g0166 a0001c0002t0008g0168 a0001c0002t0008g0172 a0001c0002t0013g0167 a0001c0002t0014g0063 a0001c0002t0019g0174 a0001c0002t0020g0165 a0001c0002t0027g0044	34	54	0.6296	15	c.91 others(26): Show c.9183_*9184insTTTTTTTTTTTTTTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding		3599		chr15	TogoVar
SPRED2_chr2_65305851_65437599	65366305	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02922.hp1 HG02922.hp2 HG01081.hp2 HG02922.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0238 a0001c0002t0001g0112 a0001c0002t0001g0253 a0001c0001t0003g0238 a0001c0002t0001g0112 a0001c0002t0001g0253	3	101	0.0297	15	c.27- others(32): Show c.27-21424_27-21410dupGTTGTTGTTGTTGTT	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5			chr2	TogoVar
SPRN_chr10_133415666_133429625	133421900	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 NA19067.hp2 HG02129.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0058 a0002c0002t0035 a0002c0002t0058	a0002c0002t0035g0058 a0002c0002t0058g0111 a0002c0002t0035g0058 a0002c0002t0058g0111	2	163	0.0123	15	c.13 others(26): Show c.1325_*1326insCCCCCCCCCCCCCCC	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding	2/2	1325		chr10	TogoVar
SPRR2A_chr1_153051120_153062512	153053197	A A	ACATGGAA others(8): Show ACATGGAAAGCTTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	15	c.33 others(26): Show c.3319_*3320insCGTAAGCTTTCCATG	SPRR2A	ENSG00000241794.2	transcript	ENST00000392653.3	protein_coding		2922		chr1	TogoVar
SPRR2F_chr1_153107121_153118516	153113992	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	375	0.0027	15	c.-53 others(24): Show c.-539_-538insAAAAAAAAAAAAAAA	SPRR2F	ENSG00000244094.2	transcript	ENST00000468739.2	protein_coding		477		chr1	TogoVar
SPRY2_chr13_80330976_80346126	80341188	A A	AGAGGAGG others(8): Show AGAGGAGGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18967.hp2 NA19062.hp1 others(2): Show NA18955.hp2 NA18967.hp2 NA19062.hp1 NA19064.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	5	395	0.0127	15	c.-61 others(24): Show c.-619_-618insCTCCTCCTCCTCCTC	SPRY2	ENSG00000136158.12	transcript	ENST00000377104.4	protein_coding		63		chr13	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG03239.hp1 others(2): Show HG01891.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0113 others(2): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0113 a0001c0002t0056 a0001c0002t0076	a0001c0001t0003g0228 a0001c0001t0010g0133 a0001c0001t0113g0170 others(2): Show a0001c0001t0003g0228 a0001c0001t0010g0133 a0001c0001t0113g0170 a0001c0002t0056g0166 a0001c0002t0076g0132	5	120	0.0417	15	c.-28 others(34): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155680191	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0051 a0001c0001t0103g0051	1	213	0.0047	15	c.-28 others(36): Show c.-282+67544_-282+67545insGTGTGTGTGTGTGTG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155751924	G G	GAAATAAA others(8): Show GAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19056.hp1 NA19084.hp1 others(1): Show NA19007.hp1 NA19056.hp1 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0111	a0001c0001t0004g0184 a0001c0001t0005g0155 a0001c0001t0018g0140 others(1): Show a0001c0001t0004g0184 a0001c0001t0005g0155 a0001c0001t0018g0140 a0001c0001t0111g0158	4	31	0.1290	15	c.-28 others(36): Show c.-281-15990_-281-15976dupATAAAATAAAATAAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY4_chr5_142305430_142330021	142311935	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01346.hp2 HG01070.hp1 HG01070.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0072 a0001c0001t0035 a0001c0001t0072	a0001c0001t0035g0067 a0001c0001t0035g0088 a0001c0001t0072g0182 a0001c0001t0035g0067 a0001c0001t0035g0088 a0001c0001t0072g0182	3	29	0.1034	15	c.22 others(26): Show c.2273_*2274insACACACACACACACA	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2273		chr5	TogoVar
SPSB1_chr1_9287894_9374532	9323895	A A	ATATCTGC others(8): Show ATATCTGCCCTCTCTG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0265 a0001c0002t0010g0265	1	368	0.0027	15	c.-15 others(36): Show c.-150+30826_-150+30840dupATCTGCCCTCTCTGT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0215 a0001c0001t0014g0215	1	42	0.0238	15	c.694 others(32): Show c.694+4584_694+4598dupTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9364087	C C	CCTGGCTG others(8): Show CCTGGCTGGGGGGCGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0275 a0001c0002t0009g0275	1	368	0.0027	15	c.695 others(32): Show c.695-3361_695-3360insCTGGCTGGGGGGCGT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2			chr1	TogoVar
SPSB2_chr12_6865935_6878303	6868053	C C	CCCTGCGC others(8): Show CCCTGCGCCCTGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	15	c.31 others(26): Show c.3124_*3138dupAGGCCAGGGCGCAGG	SPSB2	ENSG00000111671.10	transcript	ENST00000524270.6	protein_coding		2881		chr12	TogoVar
SPSB4_chr3_141046347_141153611	141112644	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02040.hp1 HG03704.hp2 others(2): Show HG01433.hp1 HG02040.hp1 HG03704.hp2 HG04115.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0062 a0001c0002t0001 others(2): Show a0001c0001t0009 a0001c0001t0062 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007	a0001c0001t0009g0148 a0001c0001t0062g0062 a0001c0002t0001g0208 others(2): Show a0001c0001t0009g0148 a0001c0001t0062g0062 a0001c0002t0001g0208 a0001c0002t0003g0053 a0001c0002t0007g0109	5	102	0.0490	15	c.695 others(34): Show c.695-34487_695-34473dupAAAAAAAAAAAAAAA	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPSB4_chr3_141046347_141153611	141135338	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02293.hp1 HG02293.hp2 others(1): Show HG01934.hp2 HG02293.hp1 HG02293.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0016 a0001c0003t0016 a0001c0001t0002 a0001c0001t0016 a0001c0003t0016	a0001c0001t0002g0170 a0001c0001t0002g0191 a0001c0001t0016g0207 others(1): Show a0001c0001t0002g0170 a0001c0001t0002g0191 a0001c0001t0016g0207 a0001c0003t0016g0204	4	141	0.0284	15	c.695 others(34): Show c.695-11793_695-11779dupTATTATTATTATTAT	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTTT others(8): Show ATTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0005 a0014c0028t0005	a0014c0028t0005g0066 a0014c0028t0005g0066	1	163	0.0061	15	c.258 others(34): Show c.2587+1691_2587+1692insAAAAAAAAAAAATAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01361.hp1 others(17): Show HG00423.hp2 HG00673.hp1 HG01361.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02148.hp2 HG02273.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 NA18747.hp1 NA18956.hp2 NA18963.hp2 NA18964.hp1 NA18985.hp1 NA18985.hp2 NA19088.hp2 NA20300.hp1	a0001 a0002 a0016 others(3): Show a0001 a0002 a0016 a0023 a0025 a0027	a0001c0001 a0002c0008 a0016c0026 others(3): Show a0001c0001 a0002c0008 a0016c0026 a0023c0081 a0025c0079 a0027c0078	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0002c0008t0001 a0016c0026t0031 a0023c0081t0010 a0025c0079t0002 a0027c0078t0002	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0045 others(13): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0045 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0004g0093 a0001c0001t0005g0095 a0001c0001t0011g0088 a0002c0008t0001g0176 a0016c0026t0031g0080 a0023c0081t0010g0121 a0025c0079t0002g0107 a0027c0078t0002g0084	20	182	0.1099	15	c.258 others(34): Show c.2587+1677_2587+1691dupAAAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp2 others(21): Show HG00099.hp1 HG00140.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01934.hp2 HG02027.hp2 HG02300.hp2 HG02738.hp2 HG03492.hp2 NA18948.hp2 NA18989.hp1 NA18990.hp2 NA19001.hp1 NA19063.hp1 NA19066.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0001c0013 a0001c0027	a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 a0001c0013t0001 a0001c0027t0001	a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 others(20): Show a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0287 a0001c0003t0001g0118 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0012t0001g0001 a0001c0013t0001g0163 a0001c0027t0001g0117	24	45	0.5333	15	c.-3- others(30): Show c.-3-5064_-3-5050dupAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128600974	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01243.hp2 HG02135.hp2 others(5): Show HG00558.hp2 HG01243.hp2 HG02135.hp2 HG02683.hp1 NA18939.hp2 NA18972.hp2 NA18977.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0119 a0001c0002t0001g0003 a0001c0002t0001g0005 others(5): Show a0001c0001t0001g0119 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0211 a0001c0002t0001g0224 a0001c0002t0001g0264	8	19	0.4211	15	c.357 others(32): Show c.3579+872_3579+886dupTTTTTTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	27/56		INFO_REALIGN_3_PRIME	chr9	TogoVar

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