Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG02895.hp1 others(4): Show HG00558.hp1 HG01081.hp1 HG02895.hp1 NA18992.hp1 NA19060.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0155 a0001c0001t0001g0189	7	378	0.0185	32	c.114 others(49): Show c.114+6457_114+6488dupATATATATATATATATATATATATATAT ATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0065 a0003c0003t0002g0065	1	255	0.0039	32	c.380 others(47): Show c.380-266_380-265insCAACAACAACAACAACAACAAAAAAAAAAA AA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	394	0.0025	32	c.-39 others(43): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp1 NA18994.hp2 HG00323.hp1 HG00597.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	3	394	0.0076	32	c.-39 others(43): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	394	0.0025	32	c.-39 others(43): Show c.-3964_-3963insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547829	A A	AGAGAAAG others(25): Show AGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 NA20752.hp2 HG01070.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0032 a0005c0004 a0001c0032 a0005c0004	a0001c0032t0005 a0005c0004t0004 a0001c0032t0005 a0005c0004t0004	a0001c0032t0005g0065 a0005c0004t0004g0071 a0001c0032t0005g0065 a0005c0004t0004g0071	2	164	0.0122	32	c.-38 others(43): Show c.-3881_-3880insGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3396		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA19068.hp1 HG02698.hp2 NA19068.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0009 a0006c0010t0001 a0001c0001t0009 a0006c0010t0001	a0001c0001t0009g0115 a0006c0010t0001g0035 a0001c0001t0009g0115 a0006c0010t0001g0035	2	164	0.0122	32	c.-38 others(43): Show c.-3878_-3877insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE3_chr7_100302702_100327196	100316044	T T	TTTGCAAC others(25): Show TTTGCAACATATAAAAAACAAAAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	344	0.0029	32	c.126 others(49): Show c.1260+201_1260+202insTTGCAACATATAAAAAACAAAAAAAGAA AAGA	SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	7/10			chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0116 a0003c0003t0003g0116	1	439	0.0023	32	c.-36 others(43): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270316	T T	TATATATA others(25): Show TATATATACGTATATATATATGTATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	326	0.0031	32	c.-80 others(41): Show c.-809_-808insATATATACGTATATATATATGTATATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		514		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	326	0.0031	32	c.-38 others(51): Show c.-38+11841_-38+11842insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0065 a0004c0005t0065	a0004c0005t0065g0231 a0004c0005t0065g0231	1	250	0.0040	32	c.-22 others(51): Show c.-22+12279_-22+12280insATATATATATATATATATATATATTT TTTTTT	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(25): Show TTTCTTTCTTTCCTTCTTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0071 a0001c0003t0071	a0001c0003t0071g0054 a0001c0003t0071g0054	1	250	0.0040	32	c.-22 others(51): Show c.-22+41716_-22+41717insTTTCCTTCTTTCTTTCCTTCTTTCCT TCTTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20274914	G G	GATTTAAT others(25): Show GATTTAATAATATTATTAAATAATTTAATAATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02717.hp2 others(2): Show HG02109.hp2 HG02145.hp2 HG02717.hp2 HG02886.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0044 a0001c0006t0045 others(1): Show a0001c0006t0022 a0001c0006t0044 a0001c0006t0045 a0001c0006t0047	a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 others(2): Show a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 a0001c0006t0045g0071 a0001c0006t0047g0067	5	250	0.0200	32	c.294 others(53): Show c.2940+14631_2940+14662dupATTATTAAATAATTTAATAATAAT TTAATAAT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	250	0.0040	32	c.305 others(51): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGTGTGTGTG TGTGTG	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(25): Show AGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0161 a0001c0001t0090g0161	1	250	0.0040	32	c.305 others(51): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGTGTGTGTGTGTG TGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35750985	A A	ATATATAT others(25): Show ATATATATATATATATGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02723.hp1 others(1): Show HG02615.hp2 HG02717.hp1 HG02723.hp1 NA20300.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 others(1): Show a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 a0006c0008t0001g0072	4	268	0.0149	32	c.333 others(51): Show c.3331-2628_3331-2627insATATGTATATATATATATACGTATAT ATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19081.hp1 HG02071.hp1 NA19081.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0008c0009t0003 a0001c0001t0002 a0008c0009t0003	a0001c0001t0002g0225 a0008c0009t0003g0154 a0001c0001t0002g0225 a0008c0009t0003g0154	2	322	0.0062	32	c.139 others(51): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01884.hp1 others(13): Show HG01192.hp1 HG01257.hp2 HG01884.hp1 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02630.hp1 HG06807.hp2 NA18939.hp2 NA18981.hp1 NA18982.hp1 NA19006.hp2 NA19064.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0020	a0001c0001 a0002c0002 a0003c0005 others(4): Show a0001c0001 a0002c0002 a0003c0005 a0004c0004 a0005c0003 a0006c0007 a0020c0017	a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 others(6): Show a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 a0004c0004t0003 a0005c0003t0001 a0005c0003t0002 a0005c0003t0004 a0006c0007t0001 a0020c0017t0012	a0001c0001t0002g0155 a0001c0001t0002g0161 a0002c0002t0001g0197 others(13): Show a0001c0001t0002g0155 a0001c0001t0002g0161 a0002c0002t0001g0197 a0002c0002t0001g0316 a0002c0002t0001g0317 a0003c0005t0001g0128 a0004c0004t0003g0068 a0004c0004t0003g0151 a0004c0004t0003g0243 a0004c0004t0003g0253 a0005c0003t0001g0073 a0005c0003t0001g0306 a0005c0003t0002g0272 a0005c0003t0004g0312 a0006c0007t0001g0189 a0020c0017t0012g0292	16	322	0.0497	32	c.33- others(47): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02976.hp2 others(5): Show HG01243.hp1 HG02622.hp1 HG02976.hp2 HG03209.hp2 HG03834.hp1 HG04115.hp2 NA18960.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0001g0112 a0001c0001t0001g0150 a0001c0001t0001g0151	8	390	0.0205	32	c.-31 others(43): Show c.-3135_-3134insTATATATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(25): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01069.hp1 others(40): Show HG00323.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01257.hp1 HG01358.hp2 HG01496.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02615.hp1 HG02970.hp2 HG03704.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18953.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19012.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0004 a0002c0003 others(4): Show a0001c0001 a0001c0004 a0002c0003 a0003c0005 a0004c0006 a0007c0011 a0008c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 a0001c0004t0004 a0002c0003t0005 a0002c0003t0009 a0003c0005t0004 a0004c0006t0002 a0007c0011t0004 a0008c0021t0004	a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 others(40): Show a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0004g0035 a0001c0001t0016g0052 a0001c0001t0023g0079 a0001c0004t0004g0111 a0001c0004t0004g0112 a0002c0003t0005g0335 a0002c0003t0005g0344 a0002c0003t0005g0354 a0002c0003t0009g0343 a0002c0003t0009g0351 a0002c0003t0009g0355 a0003c0005t0004g0169 a0003c0005t0004g0176 a0004c0006t0002g0015 a0007c0011t0004g0116 a0007c0011t0004g0117 a0008c0021t0004g0081	43	364	0.1181	32	c.611 others(49): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	216	0.0046	32	c.109 others(53): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT TTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(25): Show CGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG03516.hp1 HG02280.hp2 HG02622.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0006 a0001c0002t0004 a0001c0002t0006	a0001c0002t0004g0086 a0001c0002t0004g0136 a0001c0002t0006g0144 a0001c0002t0004g0086 a0001c0002t0004g0136 a0001c0002t0006g0144	3	176	0.0171	32	c.53- others(47): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	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(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	176	0.0057	32	c.53- others(47): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	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(25): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	176	0.0057	32	c.53- others(47): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGCGCGCGCGCG CG	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(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0002 a0001c0001t0013g0002	1	176	0.0057	32	c.53- others(47): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGCGCG CG	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(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp1 HG03209.hp1 others(4): Show HG01496.hp2 HG02559.hp1 HG03209.hp1 HG03209.hp2 HG03540.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 others(4): Show a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0029	7	176	0.0398	32	c.53- others(47): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG CG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88473281	T T	TACTCGGG others(25): Show TACTCGGGAGGCTGAAGCAGAAGAATCACTTGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG01891.hp2 others(12): Show HG01070.hp2 HG01884.hp2 HG01891.hp2 HG02280.hp1 HG02717.hp2 HG02818.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 others(12): Show a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0016g0059	15	176	0.0852	32	c.590 others(49): Show c.590-1794_590-1763dupTCGGGAGGCTGAAGCAGAAGAATCACTT GAAC	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK6_chr5_148198042_148220137	148212540	G G	GTATATAT others(25): Show GTATATATTTATATATTTATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02155.hp2 HG02257.hp1 others(29): Show HG02015.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG03453.hp1 HG03579.hp2 HG03688.hp2 NA18612.hp2 NA18941.hp2 NA18945.hp2 NA18953.hp1 NA18965.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18990.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19064.hp2 NA19066.hp2 NA19075.hp1 NA20129.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0057 others(12): Show a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0057 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189	32	438	0.0731	32	c.82- others(47): Show c.82-1364_82-1333dupATTTATATATTTATATAATATATATTATAT AT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12461587	A A	ATACATAC others(25): Show ATACATACATGTGTGTATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(96): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01071.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp2 NA18991.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0009 others(2): Show a0001c0001 a0001c0005 a0002c0009 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0005t0001 a0002c0009t0003 a0003c0008t0003 a0004c0006t0029	a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0057 others(96): Show a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0165 a0001c0001t0008g0166 a0001c0001t0008g0263 a0001c0001t0011g0324 a0001c0001t0011g0325 a0001c0001t0011g0326 a0001c0001t0011g0328 a0001c0001t0013g0009 a0001c0001t0013g0011 a0001c0001t0015g0253 a0001c0001t0015g0254 a0001c0001t0026g0097 a0001c0001t0027g0128 a0001c0001t0032g0316 a0001c0005t0001g0110 a0002c0009t0003g0323 a0003c0008t0003g0319 a0004c0006t0029g0135	99	328	0.3018	32	c.163 others(51): Show c.1638+1763_1638+1764insCATACATACATACATATACACACATG TATGTA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12461596	T T	TGTGTGTA others(25): Show TGTGTGTATATGTATGTATGTATGTACATACAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	328	0.0031	32	c.163 others(51): Show c.1638+1754_1638+1755insGTGTATGTACATACATACATACATAT ACACAC	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	328	0.0031	32	c.372 others(51): Show c.372+19716_372+19717insATATATATATATATTTTTTTTTTTTT TTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869047	A A	AACATATA others(25): Show AACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	356	0.0028	32	c.180 others(49): Show c.1807-519_1807-518insCATATATATATATATATATATATATATA TATA	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(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	356	0.0028	32	c.180 others(49): Show c.1807-513_1807-512insAAAAAAAAAATATATATATATATATATA TATA	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(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18982.hp2 NA18995.hp1 others(1): Show NA18979.hp2 NA18982.hp2 NA18995.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0171 a0001c0001t0001g0210 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0171 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0004g0212	4	356	0.0112	32	c.180 others(49): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATA	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(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18994.hp2 HG01256.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0264 a0001c0001t0001g0269	2	356	0.0056	32	c.180 others(49): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA TATA	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(25): Show AAAAAACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0330 a0001c0001t0003g0330	1	356	0.0028	32	c.180 others(49): Show c.1807-513_1807-512insAAAACATATATATATATATATATATATA TATA	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(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03927.hp1 NA18977.hp2 HG02071.hp2 HG03927.hp1 NA18977.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0024 a0001c0001 a0014c0024	a0001c0001t0001 a0014c0024t0001 a0001c0001t0001 a0014c0024t0001	a0001c0001t0001g0256 a0001c0001t0001g0268 a0014c0024t0001g0270 a0001c0001t0001g0256 a0001c0001t0001g0268 a0014c0024t0001g0270	3	356	0.0084	32	c.180 others(49): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02040.hp1 HG02165.hp1 others(9): Show HG00597.hp1 HG02040.hp1 HG02165.hp1 HG02559.hp2 HG02683.hp2 HG03831.hp2 NA18964.hp2 NA18980.hp1 NA18983.hp2 NA18990.hp1 NA19057.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0244 others(9): Show a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0244 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0326 a0001c0001t0001g0344 a0001c0001t0002g0245 a0001c0001t0003g0236 a0001c0001t0008g0181 a0001c0001t0015g0187	12	404	0.0297	32	c.-40 others(43): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(25): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0336	1	362	0.0028	32	c.111 others(51): Show c.1113+5386_1113+5387insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01255.hp1 HG01257.hp2 others(1): Show HG00621.hp1 HG01255.hp1 HG01257.hp2 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0002c0002t0001 a0003c0008t0003 a0001c0001t0001 a0002c0002t0001 a0003c0008t0003	a0001c0001t0001g0231 a0002c0002t0001g0277 a0002c0002t0001g0304 others(1): Show a0001c0001t0001g0231 a0002c0002t0001g0277 a0002c0002t0001g0304 a0003c0008t0003g0099	4	362	0.0111	32	c.111 others(51): Show c.1114-9841_1114-9810dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	260	0.0039	32	c.-12 others(43): Show c.-1200_-1199insAAAAAAAATATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	260	0.0039	32	c.-12 others(43): Show c.-1200_-1199insAAAAAAAAAATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	152	0.0066	32	c.187 others(51): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0104 a0002c0005t0002g0104	1	152	0.0066	32	c.187 others(51): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(25): Show TATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0038 a0001c0001t0010g0038	1	152	0.0066	32	c.187 others(51): Show c.187-89784_187-89783insCTCTCTCTCTCTATATATATATATAT ATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137358390	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	152	0.0066	32	c.187 others(51): Show c.187-91367_187-91336dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137384576	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	152	0.0066	32	c.186 others(53): Show c.186+113796_186+113797insCATATATATATATATATATATATA TATATATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	144	0.0069	32	c.590 others(49): Show c.590-7895_590-7894insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(25): Show CATATATATACATATATATATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0041 a0001c0008t0002g0041	1	144	0.0069	32	c.589 others(51): Show c.589+28327_589+28328insATACACATATATATATATATATGTAT ATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)