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
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02965.hp1 HG02602.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0012 a0002c0002t0008g0009 a0002c0002t0001g0012 a0002c0002t0008g0009	2	79	0.0253	38	c.146 others(57): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT ATATATATATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAST_chr2_32058556_32162637	32110794	G G	GAGTATAT others(31): Show GAGTATATATACAGTATACTATATAGTGTGTATAGAGTA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	340	0.0029	38	c.683 others(55): Show c.683-3844_683-3843insAGTATATATACAGTATACTATATAGTGT GTATAGAGTA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01071.hp1 HG01261.hp1 others(1): Show HG00544.hp2 HG01071.hp1 HG01261.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0112 a0001c0002t0122 a0001c0003t0004 others(1): Show a0001c0001t0112 a0001c0002t0122 a0001c0003t0004 a0001c0009t0010	a0001c0001t0112g0223 a0001c0002t0122g0278 a0001c0003t0004g0253 others(1): Show a0001c0001t0112g0223 a0001c0002t0122g0278 a0001c0003t0004g0253 a0001c0009t0010g0288	4	94	0.0426	38	c.65 others(49): Show c.6510_*6511insTATATATATATATATATATATATATATATATATA TATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	20	0.0500	38	c.519 others(55): Show c.519+7914_519+7915insATATATATATATATATATATATATATAT ATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	20	0.0500	38	c.519 others(55): Show c.519+7888_519+7889insCTCTCTCTCTCTATATATATATATATAT ATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA32_chr17_45249393_45267094	45262511	G G	GGCACCCC others(31): Show GGCACCCCGTGTGCCCCAGCTCCATGACCAAGGAACTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00621.hp1 others(21): Show HG00408.hp1 HG00438.hp2 HG00621.hp1 HG01175.hp1 HG02074.hp1 HG02602.hp1 HG02698.hp1 HG02886.hp1 HG03041.hp2 HG03453.hp2 NA18747.hp1 NA18941.hp1 NA18960.hp2 NA18962.hp1 NA18974.hp1 NA18983.hp2 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19059.hp2 NA19060.hp2 NA19066.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0043 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0112 a0001c0003t0001g0042 a0002c0002t0001g0081	24	405	0.0593	38	c.-49 others(47): Show c.-496_-495insTGAGTTCCTTGGTCATGGAGCTGGGGCACACGGGGT GC	SPATA32	ENSG00000184361.13	transcript	ENST00000331780.5	protein_coding		418		chr17	TogoVar
SPATA32_chr17_45249393_45267094	45262516	C C	CCCGTGTG others(31): Show CCCGTGTGCCCCAGCTCCATGACCAAGGAACTCAGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02717.hp2 others(5): Show HG02486.hp1 HG02559.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0015 a0001c0003t0001g0111 a0002c0002t0001g0110 a0001c0003t0001g0015 a0001c0003t0001g0111 a0002c0002t0001g0110	8	398	0.0201	38	c.-50 others(47): Show c.-501_-500insCGTGCTGAGTTCCTTGGTCATGGAGCTGGGGCACAC GG	SPATA32	ENSG00000184361.13	transcript	ENST00000331780.5	protein_coding		423		chr17	TogoVar
SPATA32_chr17_45249393_45267094	45262554	C C	CCCGTGTG others(31): Show CCCGTGTGCCCCAGCTCCATGACCAAGGAACTCAGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(53): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01934.hp1 HG01943.hp2 HG02055.hp2 HG02056.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02486.hp2 HG02572.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03540.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp2 NA18612.hp2 NA18949.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18978.hp2 NA18985.hp2 NA18989.hp1 NA18992.hp2 NA18999.hp1 NA19005.hp2 NA19058.hp2 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19089.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0001c0001t0001 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0107 a0001c0009t0001g0051 a0002c0002t0001g0055 a0002c0002t0001g0073	56	394	0.1421	38	c.-53 others(47): Show c.-539_-538insCGTGCTGAGTTCCTTGGTCATGGAGCTGGGGCACAC GG	SPATA32	ENSG00000184361.13	transcript	ENST00000331780.5	protein_coding		461		chr17	TogoVar
SPATA48_chr7_50090883_50164256	50125319	C C	CATATATA others(31): Show CATATATACACATATATATACATATATATATACACACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show HG02630.hp1 HG02886.hp1 HG02895.hp1 NA18522.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244	5	242	0.0207	38	c.652 others(55): Show c.652-4369_652-4368insTACACACATATATATACACATATATATA CATATATATA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	123174811	A A	ATCTTTTT others(31): Show ATCTTTTTTAAAAAAAAATATATTATACATAGTGATGTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	258	0.0039	38	c.234 others(59): Show c.2341-81189_2341-81188insATATATTATACATAGTGATGTTTC TTTTTTAAAAAAAA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG03225.hp1 HG01074.hp2 HG01884.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0059 a0001c0002t0045 a0001c0001t0014 a0001c0001t0059 a0001c0002t0045	a0001c0001t0014g0050 a0001c0001t0059g0026 a0001c0002t0045g0291 a0001c0001t0014g0050 a0001c0001t0059g0026 a0001c0002t0045g0291	3	29	0.1034	38	c.957 others(53): Show c.957+980_957+981insACACACACACACACACACACACACACACAC ACACACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73134537	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00621.hp2 others(11): Show HG00280.hp1 HG00438.hp1 HG00621.hp2 HG00735.hp2 HG01256.hp1 HG01258.hp1 HG02109.hp2 HG03669.hp2 NA18906.hp1 NA18954.hp1 NA18966.hp2 NA18977.hp2 NA19070.hp2 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0006	a0001c0001t0002 a0001c0002t0001 a0001c0005t0014 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0005t0014 a0002c0003t0002 a0002c0004t0001 a0003c0006t0005	a0001c0001t0002g0037 a0001c0002t0001g0076 a0001c0002t0001g0085 others(11): Show a0001c0001t0002g0037 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0002t0001g0090 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0005t0014g0214 a0002c0003t0002g0045 a0002c0004t0001g0092 a0003c0006t0005g0127	14	22	0.6364	38	c.-63 others(59): Show c.-639-18996_-639-18995insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646940	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01928.hp2 HG01975.hp1 others(3): Show HG00597.hp1 HG01928.hp2 HG01975.hp1 NA18971.hp1 NA19064.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0006g0002 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0006g0002 a0002c0002t0001g0049 a0002c0002t0007g0034	6	99	0.0606	38	c.-38 others(49): Show c.-3859_-3858insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3378		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0241 a0004c0005t0010g0241	1	38	0.0263	38	c.-22 others(57): Show c.-22+12279_-22+12280insATATATATATATATATATATATATAT ATTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0102 a0001c0010t0102	a0001c0010t0102g0173 a0001c0010t0102g0173	1	55	0.0182	38	c.305 others(57): Show c.3057+1872_3057+1873insAGAGAGAGAGAGTGTGTGTGTGTGTG TGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35751001	A A	ATATATAC others(31): Show ATATATACATATGTGTATATATATACGTATATACATACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	206	0.0049	38	c.333 others(57): Show c.3331-2617_3331-2616insCATATGTGTATATATATACGTATATA CATACGTATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751062	T T	TACATACG others(31): Show TACATACGTATATATATACGTATGTATATACGTATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0214 a0003c0004t0001g0214	1	263	0.0038	38	c.333 others(57): Show c.3331-2561_3331-2560insCATACGTATATATATACGTATGTATA TACGTATATACA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751096	C C	CACACACA others(31): Show CACACACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG02258.hp1 HG02922.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0166 a0008c0009t0001g0168 a0008c0009t0001g0166 a0008c0009t0001g0168	2	110	0.0182	38	c.333 others(57): Show c.3331-2527_3331-2526insCACACACACACACACACACATATATA TATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPICE1_chr3_113437718_113520156	113480930	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	362	0.0028	38	c.611 others(55): Show c.611+8014_611+8015insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113480936	A A	AAAGAAAG others(31): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0295 a0001c0002t0003g0295	1	350	0.0029	38	c.611 others(55): Show c.611+8008_611+8009insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(31): Show CGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0142 a0001c0002t0005g0143 a0001c0002t0005g0142 a0001c0002t0005g0143	2	124	0.0161	38	c.53- others(53): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	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(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	123	0.0081	38	c.53- others(53): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	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(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	107	0.0093	38	c.53- others(53): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG CGCGCGCG	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(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04228.hp1 HG03710.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0042 a0001c0001t0003g0033 a0001c0001t0002g0042 a0001c0001t0003g0033	2	108	0.0185	38	c.53- others(53): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCGCG	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(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	107	0.0093	38	c.53- others(53): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCGCG	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(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03225.hp2 NA18978.hp1 HG00140.hp2 HG03225.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0037 a0001c0001t0002g0065 a0001c0001t0004g0024 a0001c0001t0002g0037 a0001c0001t0002g0065 a0001c0001t0004g0024	3	109	0.0275	38	c.53- others(53): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIRE2_chr16_89823475_89876319	89852212	C C	CCCCACCC others(31): Show CCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0237 a0001c0001t0001g0238	2	332	0.0060	38	c.645 others(55): Show c.645+1555_645+1556insACCCCCCAGATCCCATGGCCCATCTTCC ATCCTCTCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852684	C C	CCACCCCC others(31): Show CCACCCCCTGGATCCCCTGGCCCATCTTCCATCCTCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	354	0.0028	38	c.646 others(55): Show c.646-1602_646-1601insCACCCCCTGGATCCCCTGGCCCATCTTC CATCCTCCCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	30	0.0333	38	c.180 others(55): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp2 NA18974.hp1 others(2): Show NA18945.hp1 NA18945.hp2 NA18974.hp1 NA19079.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0074 a0003c0004t0001g0040	5	34	0.1471	38	c.180 others(55): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA TATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAACA others(31): Show AAAAAACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0327 a0001c0001t0003g0327	1	30	0.0333	38	c.180 others(55): Show c.1807-513_1807-512insAAAACATATATATATATATATATATATA TATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	30	0.0333	38	c.180 others(55): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 NA18986.hp2 HG00639.hp2 NA18986.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0020 a0001c0001 a0011c0020	a0001c0001t0001 a0011c0020t0001 a0001c0001t0001 a0011c0020t0001	a0001c0001t0001g0038 a0011c0020t0001g0244 a0001c0001t0001g0038 a0011c0020t0001g0244	2	36	0.0556	38	c.-12 others(49): Show c.-1200_-1199insAAAAAAAAAATATATATATATATATATATATATA TATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0009 a0001c0001t0018g0009	1	63	0.0159	38	c.347 others(55): Show c.347+8590_347+8591insATATATATATATATATATATATATTTTT TTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(31): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	19	0.0526	38	c.187 others(57): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	19	0.0526	38	c.187 others(57): Show c.187-89784_187-89783insCTCTCTCTCTATATATATATATATAT ATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(31): Show CATATATATACATATATATATATATATATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02965.hp1 others(2): Show HG01884.hp1 HG02257.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0002g0135 a0001c0001t0003g0025 others(2): Show a0001c0001t0001g0106 a0001c0001t0002g0135 a0001c0001t0003g0025 a0001c0001t0003g0048 a0001c0001t0003g0076	5	50	0.1000	38	c.589 others(57): Show c.589+28327_589+28328insATATACACATATATATATATATATAT ATGTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(31): Show CATATATATACATATATATATATATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG01952.hp1 others(15): Show HG00140.hp1 HG00621.hp1 HG01952.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02970.hp1 HG03579.hp2 HG04115.hp2 NA18952.hp1 NA18957.hp2 NA18969.hp2 NA18971.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0002t0002 a0001c0004t0003 a0001c0005t0003	a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 others(15): Show a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0130 a0001c0001t0002g0050 a0001c0001t0002g0063 a0001c0001t0002g0082 a0001c0001t0002g0105 a0001c0001t0002g0129 a0001c0001t0003g0057 a0001c0001t0003g0120 a0001c0001t0013g0100 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0004t0003g0008 a0001c0005t0003g0005	18	63	0.2857	38	c.589 others(57): Show c.589+28327_589+28328insATATATACACATATATATATATATAT ATGTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02976.hp2 others(1): Show HG02280.hp2 HG02451.hp2 HG02976.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0003 a0002c0003t0003 a0001c0001t0001 a0001c0004t0003 a0002c0003t0003	a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0004t0003g0003 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0004t0003g0003 a0002c0003t0003g0137	4	49	0.0816	38	c.589 others(57): Show c.589+28327_589+28328insATATACATATATATATATATATATAT ATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	67	0.0149	38	c.69 others(49): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPON2_chr4_1161932_1177583	1176839	G G	GTTCATTC others(31): Show GTTCATTCACACACTTCATTCATTCATTCACACACTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0071 a0004c0017t0001g0071	1	384	0.0026	38	c.-43 others(49): Show c.-4337_-4300dupTGAAGTGTGTGAATGAATGAATGAAGTGTGTGAA TGAA	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		4257		chr4	TogoVar
SPPL3_chr12_120757510_120909358	120852718	T T	TGCATATA others(31): Show TGCATATATAATATACATATTTTACATATATGAAATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19077.hp2 NA18970.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0176 a0001c0001t0004g0177	2	318	0.0063	38	c.24- others(55): Show c.24-41833_24-41832insTATATTTCATATATGTAAAATATGTATA TTATATATGC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120852854	C C	CATATTTC others(31): Show CATATTTCATATAATATATACATATTATATATGAAATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA18939.hp1 others(10): Show HG03491.hp2 HG03492.hp2 NA18939.hp1 NA18942.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA19009.hp2 NA19057.hp2 NA19077.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0125 a0001c0001t0004g0163 a0001c0001t0004g0164 others(10): Show a0001c0001t0004g0125 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0024g0186	13	50	0.2600	38	c.24- others(55): Show c.24-41969_24-41968insATATTTCATATATAATATGTATATATTA TATGAAATAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED3_chr19_38383697_38404587	38397903	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0073 a0001c0001t0027g0073	1	251	0.0040	38	c.17 others(49): Show c.1773_*1774insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	6/6	1774	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01099.hp1 others(6): Show HG00544.hp1 HG00544.hp2 HG01099.hp1 HG01258.hp1 HG02165.hp2 HG03041.hp2 HG03225.hp1 NA18612.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0035 a0001c0001t0081 others(3): Show a0001c0001t0012 a0001c0001t0035 a0001c0001t0081 a0001c0001t0096 a0001c0001t0127 a0001c0002t0076	a0001c0001t0012g0003 a0001c0001t0012g0087 a0001c0001t0012g0174 others(6): Show a0001c0001t0012g0003 a0001c0001t0012g0087 a0001c0001t0012g0174 a0001c0001t0035g0027 a0001c0001t0035g0033 a0001c0001t0081g0112 a0001c0001t0096g0029 a0001c0001t0127g0187 a0001c0002t0076g0132	9	10	0.9000	38	c.29 others(49): Show c.2906_*2907insATATATATATATATATATATATATATGTAAATAT ATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0136 a0001c0001t0030g0136	1	42	0.0238	38	c.694 others(55): Show c.694+4598_694+4599insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54522642	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0151 a0002c0006t0003g0151	1	361	0.0028	38	c.-47 others(55): Show c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA GAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(31): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03098.hp2 HG00609.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0025 a0001c0003 a0001c0025	a0001c0003t0003 a0001c0025t0003 a0001c0003t0003 a0001c0025t0003	a0001c0003t0003g0037 a0001c0025t0003g0352 a0001c0003t0003g0037 a0001c0025t0003g0352	2	337	0.0059	38	c.-47 others(55): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0320 a0001c0003t0003g0320	1	336	0.0030	38	c.-47 others(55): Show c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGAGAGAGAGA GAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0242 a0001c0001t0051g0242	1	136	0.0074	38	c.-47 others(55): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAAAGAGAAAGAAA GAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar

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