Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	111	0.0090	28	c.759 others(45): Show c.759-8439_759-8438insAAGGAAGGAAGGAAGGGAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTTCCTTCTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG02258.hp2 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0146 a0002c0002t0001g0120 a0002c0002t0001g0146	2	112	0.0179	28	c.759 others(45): Show c.759-8439_759-8438insAAGGAAGGAAAGAAGGAAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTATAT others(21): Show CTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG00609.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0003 a0001c0001t0011 a0001c0003t0003	a0001c0001t0011g0227 a0001c0003t0003g0214 a0001c0001t0011g0227 a0001c0003t0003g0214	2	21	0.0952	28	c.519 others(45): Show c.519+7888_519+7889insCTATATATATATATATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTAT others(21): Show CTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0223 a0001c0003t0003g0223	1	20	0.0500	28	c.519 others(45): Show c.519+7888_519+7889insCTCTATATATATATATATATATATATAT	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(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02976.hp1 NA18939.hp2 HG00099.hp1 HG02976.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0028 a0001c0001t0002g0170 a0001c0001t0015g0058 a0001c0001t0002g0028 a0001c0001t0002g0170 a0001c0001t0015g0058	3	22	0.1364	28	c.519 others(45): Show c.519+7888_519+7889insCTCTCTCTCTATATATATATATATATAT	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(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18991.hp2 HG01361.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0036 a0001c0003t0003g0098 a0001c0001t0001g0036 a0001c0003t0003g0098	2	21	0.0952	28	c.519 others(45): Show c.519+7888_519+7889insCTCTCTCTCTCTCTATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0083 a0009c0010t0001g0083	1	116	0.0086	28	c.329 others(45): Show c.329+3627_329+3628insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp2 HG01258.hp1 others(5): Show HG00558.hp2 HG01106.hp2 HG01258.hp1 HG01496.hp1 HG01517.hp1 HG01981.hp1 NA18990.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0016 a0001c0001t0001g0074 a0001c0001t0001g0087	8	44	0.1818	28	c.293 others(41): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA5_chr4_122918078_123324433	122992978	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	67	0.0149	28	c.186 others(49): Show c.1869+13607_1869+13608insGTGTGTGTGTGTATGTGTGTGTGT GTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0144 a0001c0001t0010g0144	1	127	0.0079	28	c.352 others(43): Show c.352-602_352-601insTATATATATATATACACACACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48381984	T T	TGGACACA others(21): Show TGGACACAGCACATGTTTCAGAGAGCACA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	320	0.0031	28	c.909 others(45): Show c.909+3297_909+3324dupTGTGCTCTCTGAAACATGTGCTGTGTCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0129 a0001c0001t0010g0129	1	135	0.0074	28	c.39+ others(43): Show c.39+6751_39+6752insAAAAAAAAAAAATATATATATATATATA	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(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp2 others(26): Show HG00438.hp1 HG00544.hp2 HG00621.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01943.hp2 HG02071.hp1 HG02132.hp2 HG02486.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03239.hp1 HG03710.hp2 HG03942.hp2 NA18941.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp2 NA18969.hp1 NA18998.hp1 NA19003.hp2 NA19011.hp2 NA19068.hp2 NA19083.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0044 a0001c0001t0051 a0001c0001t0080 a0001c0003t0001 a0002c0004t0012 a0002c0004t0019 a0002c0004t0063 a0002c0004t0068	a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0001g0233 others(26): Show a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0253 a0001c0001t0002g0151 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0262 a0001c0001t0004g0043 a0001c0001t0005g0156 a0001c0001t0005g0173 a0001c0001t0005g0217 a0001c0001t0005g0254 a0001c0001t0007g0161 a0001c0001t0007g0184 a0001c0001t0007g0229 a0001c0001t0015g0170 a0001c0001t0025g0239 a0001c0001t0027g0178 a0001c0001t0044g0261 a0001c0001t0051g0149 a0001c0001t0080g0016 a0001c0003t0001g0255 a0001c0003t0001g0257 a0001c0003t0001g0258 a0002c0004t0012g0145 a0002c0004t0019g0131 a0002c0004t0063g0102 a0002c0004t0068g0002	29	55	0.5273	28	c.957 others(43): Show c.957+953_957+980dupACACACACACACACACACACACACACAC	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(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG03654.hp1 NA18978.hp1 others(1): Show HG02004.hp2 HG03654.hp1 NA18978.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0167 a0001c0001t0176 others(1): Show a0001c0001t0151 a0001c0001t0167 a0001c0001t0176 a0001c0001t0189	a0001c0001t0151g0154 a0001c0001t0167g0127 a0001c0001t0176g0295 others(1): Show a0001c0001t0151g0154 a0001c0001t0167g0127 a0001c0001t0176g0295 a0001c0001t0189g0173	4	79	0.0506	28	c.71 others(37): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG01361.hp2 others(15): Show HG00280.hp2 HG01099.hp1 HG01361.hp2 HG02109.hp1 HG02257.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp1 NA18971.hp2 NA18979.hp2 NA18992.hp2 NA19010.hp1 NA19043.hp1 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0001g0061 others(12): Show a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0228 a0001c0001t0003g0087 a0001c0001t0004g0026 a0001c0001t0006g0045 a0001c0001t0009g0082	18	51	0.3529	28	c.114 others(45): Show c.114+6461_114+6488dupATATATATATATATATATATATATATAT	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(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	374	0.0027	28	c.114 others(45): Show c.114+6488_114+6489insATATATATATATATATATATATATCTAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPCS2_chr11_74944266_74984033	74955887	T T	TATATATA others(21): Show TATATATATATATATATATATATATCTGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	376	0.0027	28	c.114 others(45): Show c.114+6488_114+6489insATATATATATATATATATATATATCTGC	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0103 a0002c0004t0001g0103	1	17	0.0588	28	c.-63 others(47): Show c.-639-8274_-639-8247dupAGAGAGAGAGAGAGAGAGAGAGAGAG AG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02083.hp2 HG02074.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0077 a0001c0001t0004g0003 a0001c0001t0004g0077	2	164	0.0122	28	c.-39 others(39): Show c.-3964_-3963insAAAGAAAGAAAGAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547829	A A	AGAGAAAG others(21): Show AGAGAAAGGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0062 a0005c0004t0004g0062	1	153	0.0065	28	c.-38 others(39): Show c.-3881_-3880insGAGAAAGGAAAGAAAGAAAGAAAGAAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3396		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 NA19004.hp1 NA19012.hp1 others(1): Show HG02698.hp1 NA19004.hp1 NA19012.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0003c0003t0003g0012	4	36	0.1111	28	c.-38 others(39): Show c.-3878_-3877insGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02155.hp2 NA18953.hp2 others(8): Show HG00738.hp1 HG02155.hp2 NA18953.hp2 NA18978.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp1 NA18999.hp2 NA19064.hp2 NA19070.hp2 NA19083.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0010 others(2): Show a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0010 a0003c0003t0003g0040 a0003c0003t0003g0073	11	15	0.7333	28	c.-36 others(39): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270372	C C	CGTATATA others(21): Show CGTATATATATATGTATATACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG06807.hp1 HG01981.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0041 a0001c0001t0003 a0001c0001t0041	a0001c0001t0003g0045 a0001c0001t0041g0191 a0001c0001t0003g0045 a0001c0001t0041g0191	2	321	0.0062	28	c.-75 others(37): Show c.-753_-752insGTATATATATATGTATATACATATATAT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		458		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	5	0.2000	28	c.308 others(49): Show c.3087+14485_3087+14512dupTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0224 a0004c0005t0008g0224	1	38	0.0263	28	c.-22 others(47): Show c.-22+12279_-22+12280insATATATATATATATATATATATTTTT TT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051125	T T	TTTCCTTC others(21): Show TTTCCTTCTTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0019 a0001c0001t0041g0019	1	177	0.0056	28	c.-22 others(47): Show c.-22+41704_-22+41705insCTTCTTTCCTTCTTTCCTTCTTTCCT TC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051133	T T	TTTCCTTC others(21): Show TTTCCTTCTTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19070.hp2 HG02083.hp1 NA19070.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0024 a0004c0005t0008 a0004c0005t0024	a0004c0005t0008g0223 a0004c0005t0024g0227 a0004c0005t0008g0223 a0004c0005t0024g0227	2	124	0.0161	28	c.-22 others(47): Show c.-22+41712_-22+41713insCTTCTTTCCTTCTTTCCTTCTTTCCT TC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051133	T T	TTTCTTTC others(21): Show TTTCTTTCCTTCTTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0074 a0001c0003t0074	a0001c0003t0074g0052 a0001c0003t0074g0052	1	123	0.0081	28	c.-22 others(47): Show c.-22+41724_-22+41725insTTTCCTTCTTTCCTTCTTTCCTTCTT TC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(21): Show ATTATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG04204.hp2 NA18968.hp1 HG01516.hp1 HG04204.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0086 a0001c0009t0109 a0001c0001t0002 a0001c0001t0086 a0001c0009t0109	a0001c0001t0002g0145 a0001c0001t0086g0167 a0001c0009t0109g0148 a0001c0001t0002g0145 a0001c0001t0086g0167 a0001c0009t0109g0148	3	45	0.0667	28	c.284 others(45): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02738.hp2 NA18942.hp2 others(2): Show HG01256.hp1 HG02738.hp2 NA18942.hp2 NA18984.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016	a0001c0001t0002g0172 a0001c0001t0004g0109 a0001c0001t0004g0137 others(2): Show a0001c0001t0002g0172 a0001c0001t0004g0109 a0001c0001t0004g0137 a0001c0001t0004g0166 a0001c0001t0016g0162	5	58	0.0862	28	c.259 others(47): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	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(21): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0138 a0001c0001t0077g0138	1	55	0.0182	28	c.305 others(47): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGAGAGTGTG TG	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(21): Show AGAGAGAGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02523.hp1 HG02572.hp2 others(2): Show HG02027.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 others(2): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028	a0001c0001t0004g0165 a0001c0001t0011g0107 a0001c0001t0014g0160 others(2): Show a0001c0001t0004g0165 a0001c0001t0011g0107 a0001c0001t0014g0160 a0001c0001t0027g0184 a0001c0001t0028g0185	5	59	0.0847	28	c.305 others(47): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGAGTGTGTG TG	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(21): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02895.hp1 NA19079.hp2 HG00741.hp2 HG02895.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0081 a0001c0001t0098 a0001c0001t0006 a0001c0001t0081 a0001c0001t0098	a0001c0001t0006g0147 a0001c0001t0081g0169 a0001c0001t0098g0221 a0001c0001t0006g0147 a0001c0001t0081g0169 a0001c0001t0098g0221	3	57	0.0526	28	c.305 others(47): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGTGTGTGTG TG	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(21): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0146 a0001c0001t0078g0146	1	55	0.0182	28	c.305 others(47): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGTGTGTGTGTG TG	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(21): Show AGAGAGAGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02080.hp2 NA18968.hp1 others(1): Show HG02074.hp2 HG02080.hp2 NA18968.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0085 a0001c0001t0002 a0001c0001t0016 a0001c0001t0085	a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0016g0155 others(1): Show a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0016g0155 a0001c0001t0085g0119	4	58	0.0690	28	c.305 others(47): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGTGTGTGTGTGTG TG	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(21): Show AGAGAGAGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19081.hp2 HG01433.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0105 a0001c0001t0011 a0001c0001t0105	a0001c0001t0011g0116 a0001c0001t0105g0121 a0001c0001t0011g0116 a0001c0001t0105g0121	2	56	0.0357	28	c.305 others(47): Show c.3057+1872_3057+1873insAGAGAGAGAGAGTGTGTGTGTGTGTG TG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGTG others(21): Show AGAGAGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0019 a0003c0004t0019	a0003c0004t0019g0083 a0003c0004t0019g0083	1	55	0.0182	28	c.305 others(47): Show c.3057+1872_3057+1873insAGAGTGTGTGTGTGTGTGTGTGTGTG TG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35713752	A A	ATATATAG others(21): Show ATATATAGTATATATATTATATATAGTAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0030 a0030	a0030c0027 a0030c0027	a0030c0027t0001 a0030c0027t0001	a0030c0027t0001g0258 a0030c0027t0001g0258	1	266	0.0038	28	c.291 others(45): Show c.2914+872_2914+873insGTATATATATTATATATAGTATTATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751066	T T	TACGTATA others(21): Show TACGTATATATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02602.hp1 others(15): Show HG02109.hp1 HG02257.hp1 HG02602.hp1 HG02723.hp2 HG02886.hp2 HG03491.hp2 HG03654.hp1 NA18950.hp2 NA18963.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA19001.hp1 NA19007.hp2 NA19011.hp1 NA19079.hp1	a0005 a0010 a0025 others(1): Show a0005 a0010 a0025 a0028	a0005c0006 a0010c0013 a0025c0047 others(1): Show a0005c0006 a0010c0013 a0025c0047 a0028c0029	a0005c0006t0001 a0010c0013t0001 a0025c0047t0001 others(1): Show a0005c0006t0001 a0010c0013t0001 a0025c0047t0001 a0028c0029t0001	a0005c0006t0001g0001 a0005c0006t0001g0172 a0005c0006t0001g0173 others(12): Show a0005c0006t0001g0001 a0005c0006t0001g0172 a0005c0006t0001g0173 a0005c0006t0001g0174 a0005c0006t0001g0175 a0005c0006t0001g0176 a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 a0005c0006t0001g0253 a0005c0006t0001g0254 a0010c0013t0001g0238 a0010c0013t0001g0239 a0025c0047t0001g0157 a0028c0029t0001g0041	18	86	0.2093	28	c.333 others(47): Show c.3331-2558_3331-2557insACGTATATATATATACGTATATATAT AC	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751094	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0107 a0011c0015t0001g0107	1	217	0.0046	28	c.333 others(47): Show c.3331-2529_3331-2528insTATATATATATATATATATATATATA TA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPG7_chr16_89503403_89562766	89526817	G G	GCGAAGTC others(21): Show GCGAAGTCTCAGCCCCCGACGTAGGATGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(175): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19010.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0012 a0002c0002 a0003c0003 a0004c0008 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0001c0006t0001 a0001c0012t0001 a0002c0002t0002 a0003c0003t0002 a0004c0008t0002 a0008c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(174): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0002g0204 a0001c0001t0003g0345 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0205 a0001c0004t0001g0179 a0001c0006t0001g0058 a0001c0006t0001g0104 a0001c0012t0001g0063 a0002c0002t0002g0072 a0002c0002t0002g0171 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0211 a0004c0008t0002g0105 a0008c0009t0001g0120	178	353	0.5042	28	c.758 others(43): Show c.758+433_758+460dupCCGAAGTCTCAGCCCCCGACGTAGGATG	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHKAP_chr2_227974955_228186687	228092141	A A	ATATACAT others(21): Show ATATACATATACGTATATGTATATATGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0067 a0004c0003t0002g0067	1	320	0.0031	28	c.246 others(47): Show c.246+16690_246+16691insCACATATATACATATACGTATATGTA TA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01358.hp1 HG02300.hp1 HG01168.hp2 HG01358.hp1 HG02300.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0005c0004 a0012c0026 a0001c0001 a0005c0004 a0012c0026	a0001c0001t0002 a0005c0004t0003 a0012c0026t0007 a0001c0001t0002 a0005c0004t0003 a0012c0026t0007	a0001c0001t0002g0204 a0005c0004t0003g0259 a0012c0026t0007g0187 a0001c0001t0002g0204 a0005c0004t0003g0259 a0012c0026t0007g0187	3	22	0.1364	28	c.139 others(45): Show c.139-4692_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18982.hp1 NA18988.hp1 others(3): Show HG01106.hp1 NA18982.hp1 NA18988.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0010	a0001c0001 a0004c0003 a0007c0011 others(1): Show a0001c0001 a0004c0003 a0007c0011 a0010c0009	a0001c0001t0002 a0004c0003t0002 a0007c0011t0001 others(1): Show a0001c0001t0002 a0004c0003t0002 a0007c0011t0001 a0010c0009t0003	a0001c0001t0002g0006 a0001c0001t0002g0153 a0001c0001t0002g0244 others(3): Show a0001c0001t0002g0006 a0001c0001t0002g0153 a0001c0001t0002g0244 a0004c0003t0002g0272 a0007c0011t0001g0176 a0010c0009t0003g0251	6	165	0.0364	28	c.139 others(47): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02129.hp2 HG02735.hp2 others(3): Show HG01496.hp1 HG02129.hp2 HG02735.hp2 HG03710.hp1 NA18946.hp2 NA18966.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0024 others(1): Show a0001c0001 a0002c0002 a0003c0024 a0005c0004	a0001c0001t0002 a0002c0002t0001 a0003c0024t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0024t0001 a0005c0004t0003	a0001c0001t0002g0152 a0001c0001t0002g0195 a0002c0002t0001g0222 others(3): Show a0001c0001t0002g0152 a0001c0001t0002g0195 a0002c0002t0001g0222 a0003c0024t0001g0288 a0005c0004t0003g0235 a0005c0004t0003g0245	6	188	0.0319	28	c.33- others(43): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01261.hp1 HG01517.hp1 others(14): Show HG01258.hp2 HG01261.hp1 HG01517.hp1 HG02055.hp2 HG02135.hp1 HG02486.hp2 HG02647.hp2 HG02809.hp2 HG02965.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03654.hp2 NA18949.hp2 NA18956.hp1 NA19043.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140	17	36	0.4722	28	c.-31 others(39): Show c.-3135_-3134insTATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(21): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp1 others(19): Show HG00438.hp2 HG00558.hp2 HG00597.hp1 HG01361.hp2 HG02056.hp1 HG02735.hp1 HG03831.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp2 NA18957.hp1 NA18960.hp1 NA18971.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA19060.hp1 NA19062.hp1 NA19079.hp2 NA19087.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0003c0005t0004	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0032 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0004g0031 a0001c0001t0016g0021 a0003c0005t0004g0170 a0003c0005t0004g0171 a0003c0005t0004g0175	22	111	0.1982	28	c.611 others(45): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19079.hp1 HG01978.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0002g0031 a0001c0001t0001g0162 a0001c0001t0002g0031	2	75	0.0267	28	c.109 others(49): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT ATTT	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(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02165.hp1 HG00408.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0078 a0001c0001t0001g0084	2	75	0.0267	28	c.109 others(49): Show c.1098-29818_1098-29817insATATATATATATATATATATATTT TTTT	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(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02155.hp1 HG01928.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0030 a0001c0001t0002g0038	2	75	0.0267	28	c.109 others(49): Show c.1098-29818_1098-29817insATATATATATATATATATATTTTT TTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results