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
SPATA6_chr1_48290373_48477204	48379836	A A	AAAATACA others(23): Show AAAATACAATGGAAATAAAACTCACCATGAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	320	0.0031	30	c.909 others(47): Show c.909+5443_909+5472dupATCATGGTGAGTTTTATTTCCATTGTAT TT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384338	C C	CAGGGAGA others(23): Show CAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0321 a0001c0001t0010g0321	1	239	0.0042	30	c.909 others(45): Show c.909+970_909+971insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48428809	G G	GTGTATAT others(23): Show GTGTATATATGTATATATATGTGTGTATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0099 a0001c0001t0023g0099	1	67	0.0149	30	c.239 others(49): Show c.239-15659_239-15658insTATATACACACATATATATACATATA TACA	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	3/12			chr1	TogoVar
SPATS1_chr6_44337650_44385179	44369880	C C	CATAAAAT others(23): Show CATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	107	0.0093	30	c.696 others(45): Show c.696-168_696-139dupAAAATAAAATAAAATAAAATAAAATAAAAT	SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0201 a0001c0001t0005g0201	1	135	0.0074	30	c.39+ others(45): Show c.39+6751_39+6752insAAAAAATATATATATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00733.hp1 others(28): Show HG00621.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG02027.hp1 HG02258.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04199.hp2 NA18522.hp1 NA18951.hp2 NA18957.hp1 NA18966.hp1 NA18971.hp2 NA18984.hp1 NA18998.hp2 NA19011.hp1 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0007 a0001c0001 a0001c0002 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0034 a0001c0001t0066 a0001c0001t0075 a0001c0002t0030 a0006c0007t0047	a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0213 others(28): Show a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0227 a0001c0001t0002g0292 a0001c0001t0003g0030 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0066 a0001c0001t0003g0121 a0001c0001t0004g0108 a0001c0001t0004g0111 a0001c0001t0007g0171 a0001c0001t0007g0240 a0001c0001t0014g0105 a0001c0001t0014g0110 a0001c0001t0014g0128 a0001c0001t0018g0055 a0001c0001t0020g0106 a0001c0001t0023g0273 a0001c0001t0025g0247 a0001c0001t0034g0146 a0001c0001t0066g0125 a0001c0001t0075g0029 a0001c0002t0030g0141 a0006c0007t0047g0226	31	57	0.5439	30	c.957 others(45): Show c.957+951_957+980dupACACACACACACACACACACACACACACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG01981.hp1 HG03831.hp2 others(2): Show HG00544.hp1 HG01981.hp1 HG03831.hp2 NA18522.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0102 a0001c0001t0109 others(2): Show a0001c0001t0101 a0001c0001t0102 a0001c0001t0109 a0001c0001t0118 a0001c0001t0155	a0001c0001t0101g0234 a0001c0001t0102g0235 a0001c0001t0109g0229 others(2): Show a0001c0001t0101g0234 a0001c0001t0102g0235 a0001c0001t0109g0229 a0001c0001t0118g0291 a0001c0001t0155g0123	5	80	0.0625	30	c.71 others(39): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPC24_chr19_11140493_11160782	11151570	G G	GTGCTCCT others(23): Show GTGCTCCTACCTGACATATTCTCACACAGCT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0198 a0001c0001t0029g0198	1	436	0.0023	30	c.161 others(47): Show c.161-2362_161-2333dupAGCTGTGTGAGAATATGTCAGGTAGGAG CA	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	1/4			chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01255.hp2 others(14): Show HG00642.hp2 HG01109.hp1 HG01255.hp2 HG01928.hp2 HG02055.hp1 HG02080.hp2 HG02572.hp1 HG02622.hp1 HG02976.hp2 HG03098.hp2 NA18980.hp2 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0048 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0003g0071 a0001c0001t0003g0175 a0001c0001t0005g0025 a0001c0001t0006g0280	17	50	0.3400	30	c.114 others(47): Show c.114+6459_114+6488dupATATATATATATATATATATATATATAT AT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPCS2_chr11_74944266_74984033	74955884	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	374	0.0027	30	c.114 others(47): Show c.114+6488_114+6489insATATATATATATATATATATATATATCT AT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	17	0.0588	30	c.-63 others(49): Show c.-639-8276_-639-8247dupAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAAGAAGA others(23): Show AAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	195	0.0051	30	c.-63 others(51): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCTTT CTTCTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19002.hp1 HG02293.hp2 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0001 a0002c0003t0002 a0002c0004t0001	a0002c0003t0002g0161 a0002c0004t0001g0087 a0002c0003t0002g0161 a0002c0004t0001g0087	2	196	0.0102	30	c.-63 others(51): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134537	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00741.hp2 others(37): Show HG00280.hp2 HG00423.hp1 HG00741.hp2 HG01346.hp2 HG01433.hp1 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02897.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18945.hp2 NA18963.hp1 NA18966.hp1 NA18992.hp2 NA19066.hp2 NA19070.hp1 NA19084.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0006 a0004c0009 a0010c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 a0001c0002t0001 a0001c0005t0013 a0001c0005t0014 a0001c0005t0025 a0002c0003t0002 a0002c0003t0010 a0002c0003t0011 a0002c0004t0001 a0002c0004t0004 a0003c0006t0005 a0004c0009t0007 a0010c0011t0002	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 others(37): Show a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0166 a0001c0001t0002g0200 a0001c0001t0003g0019 a0001c0001t0003g0029 a0001c0001t0003g0172 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0208 a0001c0001t0006g0183 a0001c0001t0011g0044 a0001c0001t0024g0052 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0212 a0001c0005t0013g0008 a0001c0005t0013g0122 a0001c0005t0014g0216 a0001c0005t0025g0215 a0002c0003t0002g0209 a0002c0003t0010g0169 a0002c0003t0011g0207 a0002c0004t0001g0103 a0002c0004t0004g0069 a0002c0004t0004g0140 a0002c0004t0004g0142 a0003c0006t0005g0121 a0003c0006t0005g0131 a0004c0009t0007g0011 a0010c0011t0002g0151	40	48	0.8333	30	c.-63 others(51): Show c.-639-18996_-639-18995insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646940	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 NA20752.hp2 HG01978.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0006g0030 a0001c0001t0001g0006 a0001c0001t0006g0030	2	95	0.0211	30	c.-38 others(41): Show c.-3859_-3858insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3378		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GAAAAAGA others(23): Show GAAAAAGAAAGAAAGGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02280.hp1 HG03654.hp2 others(1): Show HG01943.hp1 HG02280.hp1 HG03654.hp2 NA18967.hp2	a0002 a0006 a0016 a0002 a0006 a0016	a0002c0002 a0002c0006 a0006c0008 others(1): Show a0002c0002 a0002c0006 a0006c0008 a0016c0030	a0002c0002t0002 a0002c0006t0006 a0006c0008t0003 others(1): Show a0002c0002t0002 a0002c0006t0006 a0006c0008t0003 a0016c0030t0003	a0002c0002t0002g0090 a0002c0006t0006g0010 a0006c0008t0003g0001 others(1): Show a0002c0002t0002g0090 a0002c0006t0006g0010 a0006c0008t0003g0001 a0016c0030t0003g0029	4	36	0.1111	30	c.-38 others(41): Show c.-3878_-3877insAAAAAGAAAGAAAGGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547854	A A	AAAGAAAG others(23): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0004 a0010c0015t0004	a0010c0015t0004g0024 a0010c0015t0004g0024	1	164	0.0061	30	c.-38 others(41): Show c.-3856_-3855insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3371		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA18948.hp1 NA18965.hp1 others(2): Show HG01361.hp2 NA18948.hp1 NA18965.hp1 NA18967.hp2 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0038 a0003c0003t0003g0072 others(1): Show a0003c0003t0003g0005 a0003c0003t0003g0038 a0003c0003t0003g0072 a0003c0003t0003g0105	5	9	0.5556	30	c.-36 others(41): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24402097	G G	GCTTCCCC others(23): Show GCTTCCCCTTCCTTCCCCTTCCTTCCCCTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02055.hp1 HG03098.hp2 others(4): Show HG00544.hp1 HG02055.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03579.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(4): Show a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0003g0158 a0001c0002t0002g0199	7	90	0.0778	30	c.308 others(49): Show c.3088-9469_3088-9440dupTTCCCCTTCCTTCCCCTTCCTTCCCC TTCC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	54	0.0185	30	c.259 others(49): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp2 HG00408.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0084 a0001c0001t0004 a0001c0001t0084	a0001c0001t0004g0142 a0001c0001t0084g0161 a0001c0001t0004g0142 a0001c0001t0084g0161	2	56	0.0357	30	c.305 others(49): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGAGAGAGTG TGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	55	0.0182	30	c.305 others(49): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGAGAGTGTG TGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0168 a0001c0001t0004g0168	1	55	0.0182	30	c.305 others(49): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGAGTGTGTG TGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0011 a0001c0011t0011	a0001c0011t0011g0154 a0001c0011t0011g0154	1	55	0.0182	30	c.305 others(49): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGTGTGTGTG TGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35751096	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0034 a0034	a0034c0054 a0034c0054	a0034c0054t0001 a0034c0054t0001	a0034c0054t0001g0185 a0034c0054t0001g0185	1	109	0.0092	30	c.333 others(49): Show c.3331-2506_3331-2505insATATATATATATATATATATATATAT ATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35808700	A A	ATATATAT others(23): Show ATATATATATACACACATATATATTTATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0158 a0010c0013t0001g0158	1	264	0.0038	30	c.537 others(49): Show c.5379+1455_5379+1456insTACACACATATATATTTATATGTATA TATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	36/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	64	0.0156	30	c.882 others(47): Show c.882-4844_882-4843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPHK2_chr19_48614506_48635405	48616643	C C	CCAGCACA others(23): Show CCAGCACAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18972.hp1 NA19011.hp1 others(1): Show NA18961.hp1 NA18972.hp1 NA19011.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0048	4	200	0.0200	30	c.-30 others(41): Show c.-3014_-3013insCAGCACAGCACAGCACAGCACAGCACAGCA	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228092254	T T	TGTGTATA others(23): Show TGTGTATATGTACACACACACGTGTATGTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0208 a0004c0003t0001g0208	1	318	0.0031	30	c.246 others(49): Show c.246+16577_246+16578insGCACATACACGTGTGTGTGTACATAT ACAC	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092265	A A	ACACACAC others(23): Show ACACACACACGTGTATGTGCGTGTATACGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0073 a0004c0003t0001g0073	1	317	0.0032	30	c.246 others(49): Show c.246+16537_246+16566dupCACGTATACACGCACATACACGTGTG TGTG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092295	G G	GCACACAC others(23): Show GCACACACACGTGTATGTGCGTGTATACGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0041 a0005c0004t0003g0041	1	260	0.0038	30	c.246 others(49): Show c.246+16536_246+16537insTACGTATACACGCACATACACGTGTG TGTG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092295	G G	GCACACAC others(23): Show GCACACACACGTGTATGTGTGTGTATACGTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0124 a0003c0014t0001g0125 a0003c0014t0001g0124 a0003c0014t0001g0125	2	261	0.0077	30	c.246 others(49): Show c.246+16507_246+16536dupTACGTATACACACACATACACGTGTG TGTG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(23): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18995.hp2 NA18964.hp2 NA18995.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0022 a0001c0001 a0019c0022	a0001c0001t0002 a0019c0022t0001 a0001c0001t0002 a0019c0022t0001	a0001c0001t0002g0165 a0019c0022t0001g0157 a0001c0001t0002g0165 a0019c0022t0001g0157	2	21	0.0952	30	c.139 others(47): Show c.139-4694_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp1 HG01192.hp1 others(10): Show HG00408.hp2 HG00735.hp1 HG01192.hp1 HG01192.hp2 HG01934.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02602.hp1 NA19001.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0005 others(3): Show a0001c0001 a0002c0002 a0003c0005 a0004c0003 a0005c0004 a0005c0020	a0001c0001t0002 a0002c0002t0013 a0003c0005t0007 others(3): Show a0001c0001t0002 a0002c0002t0013 a0003c0005t0007 a0004c0003t0002 a0005c0004t0003 a0005c0020t0003	a0001c0001t0002g0207 a0001c0001t0002g0254 a0002c0002t0013g0145 others(10): Show a0001c0001t0002g0207 a0001c0001t0002g0254 a0002c0002t0013g0145 a0003c0005t0007g0144 a0004c0003t0002g0250 a0005c0004t0003g0020 a0005c0004t0003g0068 a0005c0004t0003g0069 a0005c0004t0003g0188 a0005c0004t0003g0240 a0005c0004t0003g0243 a0005c0004t0003g0253 a0005c0020t0003g0142	13	172	0.0756	30	c.139 others(49): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228161707	C C	CAGAACAA others(23): Show CAGAACAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0265 a0004c0003t0001g0265	1	266	0.0038	30	c.32+ others(47): Show c.32+19859_32+19860insATTTTATTTTATTTTATTTTATTTTGTT CT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47366822	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18949.hp2 NA18955.hp2 HG03017.hp2 NA18949.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0141	3	37	0.0811	30	c.143 others(47): Show c.143-6812_143-6783dupCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	2/4			chr11	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01167.hp1 HG01496.hp1 others(15): Show HG00621.hp1 HG01167.hp1 HG01496.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp1 HG02738.hp1 HG02897.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03704.hp2 NA18522.hp1 NA18955.hp2 NA18967.hp1 NA18982.hp2 NA19068.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0051 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0161	18	37	0.4865	30	c.-31 others(41): Show c.-3135_-3134insTATATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPIDR_chr8_47255938_47741306	47458323	G G	GTATTTTA others(23): Show GTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18983.hp2 HG01993.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0039 a0001c0001t0001g0181 a0001c0001t0002g0039	2	56	0.0357	30	c.109 others(51): Show c.1097+17821_1097+17850dupTTATTTTATTTTATTTTATTTTAT TTTATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	74	0.0135	30	c.109 others(51): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT ATATTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	74	0.0135	30	c.109 others(51): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT TTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGCGTG others(23): Show CGCGCGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0001 a0001c0002t0013g0001	1	123	0.0081	30	c.53- others(45): Show c.53-7542_53-7541insCGCGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(23): Show CGCGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02723.hp1 others(2): Show HG01243.hp1 HG02572.hp1 HG02723.hp1 HG03041.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0157 a0001c0002t0001g0080 a0001c0002t0001g0082 others(2): Show a0001c0001t0002g0157 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0087	5	127	0.0394	30	c.53- others(45): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	123	0.0081	30	c.53- others(45): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	107	0.0093	30	c.53- others(45): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG02818.hp1 others(1): Show HG01891.hp2 HG02717.hp2 HG02818.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0015g0058	4	110	0.0364	30	c.53- others(45): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK5_chr5_148058980_148142382	148123382	G G	GATTACAT others(23): Show GATTACATATATATATAGATAGATATAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02723.hp1 others(2): Show HG02109.hp2 HG02280.hp2 HG02723.hp1 HG02970.hp1 NA19240.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0004 a0009c0010t0004	a0009c0010t0004g0018 a0009c0010t0004g0146 a0009c0010t0004g0147 others(1): Show a0009c0010t0004g0018 a0009c0010t0004g0146 a0009c0010t0004g0147 a0009c0010t0004g0149	5	381	0.0131	30	c.253 others(47): Show c.2539-447_2539-446insCATATATATATAGATAGATATAATATAT TA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123382	G G	GATTATAT others(23): Show GATTATATATATATATAGATAGATATAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0002 a0023c0030t0002	a0023c0030t0002g0090 a0023c0030t0002g0090	1	377	0.0027	30	c.253 others(47): Show c.2539-438_2539-409dupTATAGATAGATATAATATATTATATATA TA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148140489	T T	TATCATTA others(23): Show TATCATTATTTAATATAAAACACAATAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0169 a0002c0002t0003g0169	1	382	0.0026	30	c.34 others(41): Show c.3498_*3499insATCATTATTTAATATAAAACACAATAAATG	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding		3108		chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210338	A A	ATATGTAT others(23): Show ATATGTATGTGTTTCTGCATACATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02922.hp1 others(3): Show HG02055.hp2 HG02647.hp1 HG02922.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0068 a0002c0002t0001g0110 others(1): Show a0002c0002t0001g0021 a0002c0002t0001g0068 a0002c0002t0001g0110 a0002c0002t0001g0191	6	25	0.2400	30	c.82- others(45): Show c.82-3567_82-3566insATGTGTTTCTGCATACATATATATGTATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12461456	A A	ATGTATGT others(23): Show ATGTATGTACATATGTACGTACATACATGTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18949.hp2 NA19065.hp1 NA18939.hp2 NA18949.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0304 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0304	3	326	0.0092	30	c.163 others(49): Show c.1638+1894_1638+1895insCACATGTATGTACGTACATATGTACA TACA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar

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