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
SPAG4_chr20_35610829_35626094	35615426	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	314	0.0032	-30	c.-57 others(39): Show c.-577_-548delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		402		chr20	TogoVar
SPAG9_chr17_50957174_51125868	51053855	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	132	0.0076	-30	c.495 others(47): Show c.495+2527_495+2556delTATATATATATATATATATATATATATA TA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32109780	GCACATAC others(23): Show GCACATACATATATAGTTACATATGTATACA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01433.hp1 others(2): Show HG01168.hp2 HG01169.hp2 HG01433.hp1 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(2): Show a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0023	5	340	0.0147	-30	c.683 others(47): Show c.683-4829_683-4800delCACACATACATATATAGTTACATATGTA TA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA22_chr17_3435019_3476819	3463933	CCCTCTCC others(23): Show CCCTCTCCCTCTCCCTCTGCCTCTCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(80): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01123.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02273.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp2 HG02735.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001	a0001c0001t0001g0245 a0002c0002t0001g0001 a0002c0002t0001g0004 others(46): Show a0001c0001t0001g0245 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0266 a0002c0002t0002g0271 a0002c0006t0001g0249 a0002c0006t0001g0250 a0002c0006t0001g0260	83	390	0.2128	-30	c.173 others(47): Show c.173-1196_173-1167delCAGAGGGAGAGGCAGAGGGAGAGGGAGA GG	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	3/8			chr17	TogoVar
SPATA31A1_chr9_39350669_39366962	39356543	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(48): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG01099.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02572.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03704.hp1 HG03710.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18975.hp1 NA18982.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19062.hp1 NA19064.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA20805.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0007 a0018 a0021 a0023 a0031 a0033 a0038	a0001c0001 a0001c0003 a0002c0002 others(12): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0003c0004 a0003c0009 a0003c0024 a0005c0008 a0007c0011 a0018c0020 a0021c0037 a0023c0036 a0031c0049 a0033c0029 a0038c0048	a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 others(13): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 a0002c0002t0001 a0002c0007t0001 a0003c0004t0001 a0003c0009t0001 a0003c0024t0001 a0005c0008t0001 a0007c0011t0002 a0018c0020t0002 a0021c0037t0001 a0023c0036t0001 a0031c0049t0001 a0033c0029t0001 a0038c0048t0001	a0001c0001t0001g0003 a0001c0003t0002g0002 a0001c0003t0005g0042 others(16): Show a0001c0001t0001g0003 a0001c0003t0002g0002 a0001c0003t0005g0042 a0002c0002t0001g0002 a0002c0007t0001g0024 a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0009t0001g0002 a0003c0024t0001g0002 a0005c0008t0001g0002 a0005c0008t0001g0006 a0007c0011t0002g0013 a0018c0020t0002g0006 a0018c0020t0002g0022 a0021c0037t0001g0002 a0023c0036t0001g0002 a0031c0049t0001g0020 a0033c0029t0001g0002 a0038c0048t0001g0002	51	70	0.7286	-30	c.190 others(45): Show c.190-553_190-524delATTTTATTTTATTTTATTTTATTTTATTTT	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA5_chr4_122918078_123324433	123007580	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG02148.hp2 others(22): Show HG00099.hp1 HG00438.hp1 HG02148.hp2 HG03225.hp2 HG03486.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp1 NA18940.hp1 NA18948.hp1 NA18950.hp2 NA18957.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18983.hp2 NA19003.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19087.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0001t0027 a0001c0001t0047 a0001c0001t0059 a0001c0001t0073	a0001c0001t0001g0062 a0001c0001t0002g0021 a0001c0001t0002g0022 others(22): Show a0001c0001t0001g0062 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0008g0017 a0001c0001t0013g0071 a0001c0001t0019g0051 a0001c0001t0027g0024 a0001c0001t0047g0029 a0001c0001t0059g0081 a0001c0001t0073g0076	25	260	0.0962	-30	c.187 others(51): Show c.1870-20604_1870-20575delGTGTGTGTGTGTGTGTGTGTGTGT GTGTAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007582	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03492.hp2 HG03654.hp1 others(2): Show HG02165.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0021 a0003c0003t0054 a0003c0003t0001 a0003c0003t0021 a0003c0003t0054	a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0021g0009 others(2): Show a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0021g0009 a0003c0003t0021g0013 a0003c0003t0054g0012	5	245	0.0204	-30	c.187 others(51): Show c.1870-20602_1870-20573delGTGTGTGTGTGTGTGTGTGTGTGT GTATAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123173001	TGTAGAAA others(23): Show TGTAGAAAACTTAAATAGGTTAATAATTGTC	T T	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	260	0.0038	-30	c.234 others(51): Show c.2340+82297_2340+82326delGTAGAAAACTTAAATAGGTTAATA ATTGTC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15			chr4	TogoVar
SPATA6_chr1_48290373_48477204	48384350	CAGGGAGA others(23): Show CAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp2 HG02109.hp2 others(3): Show HG01243.hp1 HG01934.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0034 a0001c0001t0041 others(2): Show a0001c0001t0014 a0001c0001t0034 a0001c0001t0041 a0001c0001t0042 a0002c0002t0005	a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0001t0034g0101 others(3): Show a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0001t0034g0101 a0001c0001t0041g0212 a0001c0001t0042g0197 a0002c0002t0005g0081	6	77	0.0779	-30	c.909 others(45): Show c.909+929_909+958delCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATS2L_chr2_200301693_200487264	200352311	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp1 HG01884.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0059 a0002c0004t0019 a0001c0001t0059 a0002c0004t0019	a0001c0001t0059g0026 a0002c0004t0019g0135 a0001c0001t0059g0026 a0002c0004t0019g0135	2	10	0.2000	-30	c.-23 others(49): Show c.-23+22833_-23+22862delTTATATATATATATATATATATATAT ATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819845	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 NA20300.hp2 HG01109.hp1 HG02965.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0030 a0001c0003t0004g0327 a0001c0003t0004g0328 a0001c0001t0001g0030 a0001c0003t0004g0327 a0001c0003t0004g0328	3	308	0.0097	-30	c.294 others(45): Show c.294+741_294+770delAAAATATATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819849	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0172 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0172	3	284	0.0106	-30	c.294 others(45): Show c.294+768_294+797delATATATATATATATATATATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73156133	CACACACT others(23): Show CACACACTCTCTCTCTCTCTCTCTCTCTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	213	0.0047	-30	c.-14 others(41): Show c.-1480_-1451delCAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		703		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(23): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	170	0.0059	-30	c.-14 others(41): Show c.-1481_-1452delACAGAGAGAGAGAGAGAGAGAGAGAGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(23): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0128 a0003c0006t0005g0128	1	160	0.0063	-30	c.-14 others(41): Show c.-1485_-1456delACAGACAGAGAGAGAGAGAGAGAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		708		chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77034168	TCTCAAAG others(23): Show TCTCAAAGTGCTGGGAATACAGGCATAAGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	294	0.0034	-30	c.-24 others(41): Show c.-2412_-2383delGTCTTATGCCTGTATTCCCAGCACTTTGAG	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding		1808		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20086788	CCCTTCCT others(23): Show CCCTTCCTCCCAGGTCCTCATCGTTCAAATG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0097 a0003c0004t0003g0097	1	248	0.0040	-30	c.-21 others(47): Show c.-21-9841_-21-9812delCTTCCTCCCAGGTCCTCATCGTTCAAAT GC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35751036	CACATATG others(23): Show CACATATGTATATATATATACGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG01891.hp2 HG02976.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0015 a0014c0019t0001g0105 a0014c0019t0001g0015 a0014c0019t0001g0105	2	230	0.0087	-30	c.333 others(49): Show c.3331-2587_3331-2558delACATATGTATATATATATACGTATAT ATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35808700	ATATATAT others(23): Show ATATATATACACACACATATATATTTATATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18906.hp1 HG00642.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0084 a0001c0003t0001g0037 a0001c0002t0001g0084 a0001c0003t0001g0037	2	265	0.0075	-30	c.537 others(49): Show c.5379+1456_5379+1485delCACACACATATATATTTATATGTATA TATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	36/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPG11_chr15_44557696_44668662	44641586	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0174 a0010c0011t0001g0174	1	46	0.0217	-30	c.160 others(49): Show c.1602+7250_1602+7279delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPG21_chr15_64958022_64994914	64960418	CCCAGCCA others(23): Show CCCAGCCATTTTAGTCCTCCATGAAAATATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0083 a0001c0001t0006g0083	1	350	0.0029	-30	c.31 others(41): Show c.3172_*3201delAATATTTTCATGGAGGACTAAAATGGCTGG	SPG21	ENSG00000090487.11	transcript	ENST00000204566.7	protein_coding		2603		chr15	TogoVar
SPG7_chr16_89503403_89562766	89550656	GTGGGGAG others(23): Show GTGGGGAGTCCCGCCTGTGTCTGTAGCTGAC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	304	0.0033	-30	c.177 others(47): Show c.1779+103_1779+132delCTGACTGGGGAGTCCCGCCTGTGTCTGT AG	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHKAP_chr2_227974955_228186687	228080707	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01168.hp2 others(10): Show HG00099.hp1 HG01074.hp1 HG01168.hp2 HG02132.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03540.hp2 HG04228.hp2 NA18964.hp2 NA18989.hp2 NA20805.hp2 NA21309.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0021	a0001c0001 a0004c0003 a0006c0007 others(1): Show a0001c0001 a0004c0003 a0006c0007 a0021c0031	a0001c0001t0002 a0004c0003t0001 a0006c0007t0001 others(1): Show a0001c0001t0002 a0004c0003t0001 a0006c0007t0001 a0021c0031t0015	a0001c0001t0002g0143 a0001c0001t0002g0165 a0001c0001t0002g0204 others(10): Show a0001c0001t0002g0143 a0001c0001t0002g0165 a0001c0001t0002g0204 a0001c0001t0002g0218 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0004c0003t0001g0265 a0004c0003t0001g0289 a0004c0003t0001g0290 a0004c0003t0001g0293 a0006c0007t0001g0027 a0021c0031t0015g0266	13	29	0.4483	-30	c.246 others(49): Show c.246+28095_246+28124delATTTTATTTTATTTTATTTTATTTTA TTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092107	ATACACAT others(23): Show ATACACATATATACATATACGTATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0305 a0004c0003t0001g0305	1	320	0.0031	-30	c.246 others(49): Show c.246+16695_246+16724delCACACATATACGTATATGTATATATG TGTA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092127	GTATATGT others(23): Show GTATATGTGTGTACACATATATACATATACA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18992.hp2 NA21309.hp1 HG03225.hp1 NA18992.hp2 NA21309.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0031 a0001c0001 a0021c0031	a0001c0001t0002 a0021c0031t0015 a0001c0001t0002 a0021c0031t0015	a0001c0001t0002g0114 a0001c0001t0002g0219 a0021c0031t0015g0266 a0001c0001t0002g0114 a0001c0001t0002g0219 a0021c0031t0015g0266	3	307	0.0098	-30	c.246 others(49): Show c.246+16675_246+16704delTGTATATGTATATATGTGTACACACA TATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092295	GCACACAC others(23): Show GCACACACACGTGTATGTGTGTGTATACGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01070.hp2 others(55): Show HG00099.hp1 HG00609.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp2 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG02896.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18974.hp1 NA18978.hp2 NA18986.hp2 NA18992.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0018	a0001c0001 a0002c0002 a0003c0005 others(3): Show a0001c0001 a0002c0002 a0003c0005 a0003c0006 a0005c0004 a0018c0029	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 a0003c0006t0001 a0005c0004t0003 a0018c0029t0002	a0001c0001t0001g0093 a0001c0001t0002g0001 a0001c0001t0002g0004 others(55): Show a0001c0001t0001g0093 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0058 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0120 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0220 a0003c0005t0001g0081 a0003c0005t0001g0094 a0003c0005t0001g0248 a0003c0006t0001g0098 a0003c0006t0001g0099 a0005c0004t0003g0052 a0005c0004t0003g0259 a0018c0029t0002g0257	58	317	0.1830	-30	c.246 others(49): Show c.246+16507_246+16536delTACGTATACACACACATACACGTGTG TGTG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPIB_chr19_50413938_50436314	50419838	GGCTGCGG others(23): Show GGCTGCGGTGGTCACAGCTGCTGCCGCCTCC	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	386	0.0026	-30	c.24- others(42): Show c.24-107_24-78delGCTGCGGTGGTCACAGCTGCTGCCGCCTCC	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding	1/5			chr19	TogoVar
SPIC_chr12_101470336_101491997	101478974	AAAAAATA others(23): Show AAAAAATACAAAAATTAGCCAAGTGTGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	396	0.0025	-30	c.98- others(43): Show c.98-607_98-578delAAAAATACAAAAATTAGCCAAGTGTGGTGG	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5			chr12	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02897.hp1 HG02280.hp2 HG02572.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0215 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0001g0215 a0001c0001t0002g0156 a0001c0001t0002g0158	3	41	0.0732	-30	c.109 others(49): Show c.1098-7753_1098-7724delTATATATATATATATATATATATATA TATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINT2_chr19_38259573_38297615	38259631	ATATATAT others(23): Show ATATATATATTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	389	0.0026	-30	c.-52 others(41): Show c.-5261_-5232delTATATATATTTTTTTTTTTTTTTTTTTTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4941		chr19	TogoVar
SPINT3_chr20_45507461_45520622	45508627	TTTCCCTT others(23): Show TTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0008 a0003c0003t0003g0008	1	144	0.0069	-30	c.39 others(41): Show c.3994_*4023delGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA	SPINT3	ENSG00000101446.8	transcript	ENST00000217428.7	protein_coding		3833		chr20	TogoVar
SPNS3_chr17_4428940_4493204	4468741	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG03209.hp2 HG02809.hp2 HG02818.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0035 a0001c0001t0002g0344 a0001c0003t0002g0127 a0001c0001t0001g0035 a0001c0001t0002g0344 a0001c0003t0002g0127	3	360	0.0083	-30	c.111 others(49): Show c.1114-9817_1114-9788delTTCTTTCTCTCTTTCTTTTTCTTTCT TTCT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00642.hp2 others(64): Show HG00280.hp1 HG00323.hp1 HG00642.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01257.hp2 HG01516.hp2 HG01952.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp2 NA18946.hp1 NA18947.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18970.hp1 NA18970.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0017 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0027 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0206 a0001c0001t0004g0183 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0223 a0001c0001t0005g0119 a0001c0001t0005g0122 a0001c0001t0005g0146 a0001c0001t0006g0044 a0001c0001t0007g0194 a0001c0002t0001g0003 a0001c0002t0001g0023 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0064 a0001c0002t0001g0144 a0001c0002t0001g0164 a0001c0002t0003g0197 a0001c0002t0003g0208 a0001c0002t0003g0221 a0001c0002t0003g0224 a0001c0002t0009g0161 a0001c0002t0009g0172 a0001c0002t0019g0207 a0001c0003t0001g0069 a0001c0003t0001g0109 a0001c0003t0001g0175 a0001c0003t0002g0066 a0001c0003t0002g0090 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0103 a0001c0003t0005g0089 a0001c0003t0008g0091 a0001c0003t0008g0092 a0001c0003t0017g0073 a0001c0004t0001g0067 a0001c0004t0001g0076 a0001c0004t0001g0106 a0001c0004t0001g0110 a0001c0004t0001g0117 a0001c0004t0002g0074 a0001c0004t0002g0075	67	68	0.9853	-30	c.677 others(49): Show c.677-21829_677-21800delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPOPL_chr2_138496770_138578547	138567372	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02895.hp2 HG00423.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0074 a0001c0001t0003g0167 a0001c0001t0001g0074 a0001c0001t0003g0167	2	18	0.1111	-30	c.103 others(49): Show c.1035-1531_1035-1502delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPRED1_chr15_38247836_38362249	38251697	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	53	0.0189	-30	c.-14 others(41): Show c.-1488_-1459delACACACACACACACACACACACACACACAC	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding		1138		chr15	TogoVar
SPRN_chr10_133415666_133429625	133415990	CGGGTGTC others(23): Show CGGGTGTCGGGCAGGCGGGTGTCGGGCACGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01069.hp2 others(28): Show HG00140.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp2 HG03225.hp1 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18971.hp2 NA18974.hp2 NA18983.hp2 NA18989.hp1 NA19043.hp2 NA19060.hp1 NA19082.hp2 NA19083.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0008 a0002c0003 a0003c0008	a0002c0003t0003 a0002c0003t0024 a0002c0003t0038 others(2): Show a0002c0003t0003 a0002c0003t0024 a0002c0003t0038 a0002c0003t0042 a0003c0008t0003	a0002c0003t0003g0003 a0002c0003t0003g0023 a0002c0003t0003g0037 others(5): Show a0002c0003t0003g0003 a0002c0003t0003g0023 a0002c0003t0003g0037 a0002c0003t0024g0046 a0002c0003t0024g0063 a0002c0003t0038g0062 a0002c0003t0042g0064 a0003c0008t0003g0038	31	471	0.0658	-30	c.72 others(41): Show c.7206_*7235delACGTGCCCGACACCCGCCTGCCCGACACCC	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding		4675		chr10	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02818.hp1 HG03098.hp2 others(3): Show HG02451.hp1 HG02818.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0021 a0002c0002t0001g0005 a0002c0002t0001g0007 a0001c0001t0002g0021 a0002c0002t0001g0005 a0002c0002t0001g0007	6	35	0.1714	-30	c.56 others(41): Show c.5694_*5723delTATATATATATATATATATATATATATATA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4032		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG02258.hp1 others(2): Show HG01243.hp1 HG01934.hp1 HG02258.hp1 HG02293.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0081 a0001c0001t0094 a0001c0001t0109 others(2): Show a0001c0001t0081 a0001c0001t0094 a0001c0001t0109 a0001c0001t0120 a0001c0002t0135	a0001c0001t0081g0112 a0001c0001t0094g0115 a0001c0001t0109g0118 others(2): Show a0001c0001t0081g0112 a0001c0001t0094g0115 a0001c0001t0109g0118 a0001c0001t0120g0009 a0001c0002t0135g0018	5	13	0.3846	-30	c.-28 others(51): Show c.-282+25693_-282+25722delATATATATATATATATATATATAT ATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155751924	GAAATAAA others(23): Show GAAATAAAATAAAATAAAATAAAATAAAATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0059 a0001c0002t0033g0059	1	28	0.0357	-30	c.-28 others(51): Show c.-281-16005_-281-15976delATAAAATAAAATAAAATAAAATAA AATAAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB4_chr3_141046347_141153611	141151349	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0045 a0002c0004t0045	a0002c0004t0045g0240 a0002c0004t0045g0240	1	252	0.0040	-30	c.40 others(41): Show c.4081_*4110delGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding		2739		chr3	TogoVar
SPTLC2_chr14_77500997_77621637	77515988	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGCGCGCGCGCGCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(144): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(143): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0064 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0143 a0001c0001t0003g0167 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0009g0174 a0001c0001t0012g0225 a0001c0001t0012g0227 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0014g0099 a0001c0001t0014g0131 a0001c0001t0015g0130 a0001c0001t0015g0149 a0001c0001t0016g0068 a0001c0001t0016g0136 a0001c0001t0019g0245 a0001c0001t0025g0019 a0001c0001t0026g0159 a0001c0001t0027g0135 a0001c0001t0031g0043 a0001c0001t0032g0205 a0001c0001t0034g0090 a0001c0001t0035g0122 a0001c0001t0036g0083 a0001c0001t0044g0047 a0001c0001t0047g0231 a0001c0001t0048g0234 a0001c0001t0049g0232 a0001c0002t0001g0103 a0001c0002t0003g0032 a0001c0002t0003g0061 a0001c0002t0019g0235 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0021	147	209	0.7033	-30	c.156 others(49): Show c.1569+2020_1569+2049delTGCGCGCGCGCGCACACACACACACA CACA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	11/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02622.hp2 others(2): Show HG01884.hp2 HG02055.hp1 HG02622.hp2 NA18522.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0001t0007 a0001c0009t0011 a0001c0001t0004 a0001c0001t0007 a0001c0009t0011	a0001c0001t0004g0238 a0001c0001t0007g0237 a0001c0001t0007g0240 others(2): Show a0001c0001t0004g0238 a0001c0001t0007g0237 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0009t0011g0161	5	13	0.3846	-30	c.304 others(47): Show c.304-5183_304-5154delATATATATATATATATATATATATATAT AT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSB_chr3_161339798_161376517	161369286	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(21): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00733.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp2 HG01516.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02071.hp2 HG02698.hp1 HG02735.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03927.hp2 HG03942.hp1 HG06807.hp1 NA18993.hp2 NA19009.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0228 a0001c0001t0012g0171	24	391	0.0614	-30	c.-12 others(49): Show c.-126+2119_-126+2148delGAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SRBD1_chr2_45383680_45616267	45415667	GGGAGGGG others(23): Show GGGAGGGGAGGGGAGGGGACGGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	341	0.0029	-30	c.233 others(49): Show c.2334-2404_2334-2375delTCTCCTCTCCCGTCCCCTCCCCTCCC CTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415677	GGGAGGGG others(23): Show GGGAGGGGACGGGAGAGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19056.hp1 NA19088.hp2 others(1): Show HG00642.hp1 NA19056.hp1 NA19088.hp2 NA20129.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0109 a0002c0004t0001g0213 a0002c0004t0001g0216 others(1): Show a0002c0004t0001g0109 a0002c0004t0001g0213 a0002c0004t0001g0216 a0002c0004t0001g0217	4	320	0.0125	-30	c.233 others(49): Show c.2334-2414_2334-2385delTCTCCTCTCCTCTCCTCTCCCGTCCC CTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415748	CGAGAGGA others(23): Show CGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02040.hp1 others(6): Show HG01243.hp2 HG01261.hp1 HG02040.hp1 HG02886.hp1 HG04228.hp2 NA18981.hp1 NA18987.hp2 NA18989.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0186 a0001c0001t0001g0235 a0001c0001t0001g0252 a0001c0001t0001g0260	9	191	0.0471	-30	c.233 others(49): Show c.2334-2485_2334-2456delCTCTCCTCTCCTCTCCTCTCCTCTCC TCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45425689	GCAAGGAG others(23): Show GCAAGGAGTCAGGGAACTCACTCAGAAAGCA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	356	0.0028	-30	c.205 others(49): Show c.2050-5825_2050-5796delTGCTTTCTGAGTGAGTTCCCTGACTC CTTG	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45509598	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	39	0.0256	-30	c.187 others(51): Show c.1875-21297_1875-21268delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37373427	GTGTATAT others(23): Show GTGTATATACGCATATATACGCATATATGCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	278	0.0036	-30	c.-17 others(49): Show c.-173+8152_-173+8181delGTATATACGCATATATACGCATATAT GCAT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRGAP1_chr12_63839700_64167217	63913478	GATATATA others(23): Show GATATATATATATAAATACACATATATGTGT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	78	0.0128	-30	c.67+ others(47): Show c.67+68607_67+68636delTAAATACACATATATGTGTATATATATA TA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar

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