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.

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
MRPS14_chr1_175007958_175028425	175026871	CTTATATA others(21): Show CTTATATATTATATATTCATATTAAATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	398	0.0025	-28	c.-34 others(39): Show c.-3491_-3464delATATTTAATATGAATATATAATATATAA	MRPS14	ENSG00000120333.4	transcript	ENST00000476371.1	protein_coding		3447		chr1	TogoVar
MRPS31_chr13_40724128_40776190	40769373	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01106.hp1 HG01109.hp2 HG01255.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0280 others(96): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072	119	404	0.2946	-28	c.152 others(45): Show c.152+1584_152+1611delATATATATATATATATATATATATATAT	MRPS31	ENSG00000102738.8	transcript	ENST00000323563.8	protein_coding	1/6			chr13	TogoVar
MRPS35_chr12_27705832_27761295	27732987	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02129.hp2 HG02055.hp2 HG02129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0153 a0002c0002t0002g0067 a0001c0001t0001g0153 a0002c0002t0002g0067	2	358	0.0056	-28	c.523 others(45): Show c.523-2433_523-2406delATATATATATATATATATATATATATAT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRTFA_chr22_40405289_40641719	40459806	CACACACA others(21): Show CACACACACACACACACATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0248 a0001c0004t0001g0248	1	256	0.0039	-28	c.307 others(45): Show c.307+3387_307+3414delATATGTATATATGTGTGTGTGTGTGTGT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	4/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40470229	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp1 HG02630.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0254 a0001c0002t0001g0255	2	256	0.0078	-28	c.242 others(45): Show c.242-6971_242-6944delTATATATATATATATATATATATATAAA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40569716	AATACATA others(21): Show AATACATACATACATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	256	0.0039	-28	c.-21 others(47): Show c.-21-17377_-21-17350delGTATGTATGTATGTATGTATGTATGT AT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	2/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40617168	AGGAGGGA others(21): Show AGGAGGGAAGGAGGGAAGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp1 HG02630.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0254 a0001c0002t0001g0255	2	256	0.0078	-28	c.-84 others(47): Show c.-84+19282_-84+19309delCTCCCTCCCTCCTTCCCTCCTTCCCT CC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	1/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFB_chr16_14066319_14271773	14127913	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02723.hp1 HG02970.hp1 others(2): Show HG01261.hp2 HG02723.hp1 HG02970.hp1 HG03579.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0058 a0001c0002t0002g0059 others(2): Show a0001c0002t0002g0014 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061	5	240	0.0208	-28	c.-63 others(47): Show c.-63-12629_-63-12602delATATATATATATATATTTTTTTTTTT TT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14127915	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	240	0.0042	-28	c.-63 others(47): Show c.-63-12627_-63-12600delATATATATATATATTTTTTTTTTTTT TT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSH3_chr5_80649652_80881815	80692525	TAGATAAA others(21): Show TAGATAAACATGTATATGTTTATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp2 HG06807.hp1 others(2): Show HG01099.hp2 HG02257.hp2 HG06807.hp1 NA18957.hp2 NA21309.hp2	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0020 a0037	a0002c0003 a0005c0006 a0006c0007 others(2): Show a0002c0003 a0005c0006 a0006c0007 a0020c0016 a0037c0027	a0002c0003t0003 a0005c0006t0003 a0006c0007t0008 others(2): Show a0002c0003t0003 a0005c0006t0003 a0006c0007t0008 a0020c0016t0005 a0037c0027t0023	a0002c0003t0003g0193 a0005c0006t0003g0359 a0006c0007t0008g0273 others(2): Show a0002c0003t0003g0193 a0005c0006t0003g0359 a0006c0007t0008g0273 a0020c0016t0005g0010 a0037c0027t0023g0019	5	362	0.0138	-28	c.134 others(49): Show c.1340+13488_1340+13515delGAGATAAACATGTATATGTTTATA TAGA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75820066	AATTGTCT others(21): Show AATTGTCTTGTACTTGTCATCAGAACAAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0066 a0001c0004t0001g0073 a0001c0004t0001g0066 a0001c0004t0001g0073	2	332	0.0060	-28	c.990 others(45): Show c.990-2340_990-2313delTGTCTTGTACTTGTCATCAGAACAAGAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75902673	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01346.hp2 others(14): Show HG01109.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp1 HG01993.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG03195.hp1 HG03654.hp1 HG03710.hp1 HG04199.hp1 HG06807.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0007 a0001c0004 a0004c0007	a0001c0004t0001 a0001c0004t0003 a0004c0007t0001 a0001c0004t0001 a0001c0004t0003 a0004c0007t0001	a0001c0004t0001g0011 a0001c0004t0001g0044 a0001c0004t0001g0049 others(14): Show a0001c0004t0001g0011 a0001c0004t0001g0044 a0001c0004t0001g0049 a0001c0004t0001g0053 a0001c0004t0001g0055 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0068 a0001c0004t0001g0071 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0003g0149 a0001c0004t0003g0150 a0001c0004t0003g0151 a0001c0004t0003g0152 a0001c0004t0003g0153 a0004c0007t0001g0222	17	332	0.0512	-28	c.261 others(47): Show c.2619+3002_2619+3029delTATATATATATATATATATATATATA TA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH5_chr6_31735005_31767676	31763463	GGTCTGGA others(21): Show GGTCTGGAGCTGCTACAGCATGGCCAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0005 a0008c0012t0001g0005	1	397	0.0025	-28	c.93 others(37): Show c.933_*960delGTCTGGAGCTGCTACAGCATGGCCAGGC	MSH5	ENSG00000204410.16	transcript	ENST00000375750.9	protein_coding		788		chr6	TogoVar
MSH6_chr2_47778145_47811953	47788900	CTTCTTCC others(21): Show CTTCTTCCTTTTTTTTTTTTTTGTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0360 a0001c0004t0001g0360	1	390	0.0026	-28	c.261 others(45): Show c.261-2024_261-1997delCTTCCTTTTTTTTTTTTTTGTTTTTTTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSI2_chr17_57251523_57689689	57450255	TAAAGAAA others(21): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18942.hp1 NA18945.hp1 others(1): Show HG01106.hp2 NA18942.hp1 NA18945.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0001c0001t0095	a0001c0001t0001g0045 a0001c0001t0002g0099 a0001c0001t0033g0120 others(1): Show a0001c0001t0001g0045 a0001c0001t0002g0099 a0001c0001t0033g0120 a0001c0001t0095g0059	4	168	0.0238	-28	c.405 others(47): Show c.405+48824_405+48851delGAAAGAAAGAAAGAAAGAAAGAAAGA AA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSI2_chr17_57251523_57689689	57526356	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01074.hp1 others(42): Show HG00423.hp1 HG00609.hp1 HG01074.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18994.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp2 NA19081.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0033 a0001c0001t0045 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0059 a0001c0001t0064 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0082 a0001c0001t0084 a0001c0001t0089 a0001c0001t0090 a0001c0001t0093 a0001c0001t0097 a0001c0001t0102	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0045 others(42): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0109 a0001c0001t0002g0047 a0001c0001t0002g0087 a0001c0001t0003g0101 a0001c0001t0004g0082 a0001c0001t0005g0031 a0001c0001t0005g0091 a0001c0001t0006g0039 a0001c0001t0006g0083 a0001c0001t0006g0104 a0001c0001t0007g0100 a0001c0001t0008g0066 a0001c0001t0009g0146 a0001c0001t0011g0159 a0001c0001t0012g0081 a0001c0001t0013g0131 a0001c0001t0013g0133 a0001c0001t0014g0163 a0001c0001t0021g0078 a0001c0001t0024g0094 a0001c0001t0024g0096 a0001c0001t0025g0136 a0001c0001t0027g0150 a0001c0001t0033g0120 a0001c0001t0045g0068 a0001c0001t0049g0017 a0001c0001t0052g0092 a0001c0001t0053g0021 a0001c0001t0054g0023 a0001c0001t0059g0127 a0001c0001t0064g0062 a0001c0001t0068g0108 a0001c0001t0071g0016 a0001c0001t0072g0145 a0001c0001t0074g0080 a0001c0001t0082g0107 a0001c0001t0084g0097 a0001c0001t0089g0003 a0001c0001t0090g0057 a0001c0001t0093g0032 a0001c0001t0097g0067 a0001c0001t0102g0013	45	168	0.2679	-28	c.406 others(45): Show c.406-3294_406-3267delTGTGTGTGTGTGTGTGTGTGTGTGTGTG	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSMB_chr10_46028313_46051269	46049795	ACTATGAT others(21): Show ACTATGATATGTGGGAAATGCTTTGTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	446	0.0022	-28	c.-35 others(39): Show c.-3586_-3559delAAGACAAAGCATTTCCCACATATCATAG	MSMB	ENSG00000263639.7	transcript	ENST00000582163.3	protein_coding		3527		chr10	TogoVar
MSN_chrX_65662654_65746931	65670896	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	170	0.0059	-28	c.12+ others(43): Show c.12+3075_12+3102delATATATATATATATATATATATATATAT	MSN	ENSG00000147065.18	transcript	ENST00000360270.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
MSN_chrX_65662654_65746931	65742656	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG02572.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0008 a0001c0001t0002g0011	2	170	0.0118	-28	c.27 others(39): Show c.2764_*2791delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	MSN	ENSG00000147065.18	transcript	ENST00000360270.7	protein_coding		726		chrX	TogoVar
MSN_chrX_65662654_65746931	65742752	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	170	0.0059	-28	c.28 others(39): Show c.2860_*2887delCCTTCCTTCCTTCCTTCCTTCCTTCCTT	MSN	ENSG00000147065.18	transcript	ENST00000360270.7	protein_coding		822		chrX	TogoVar
MSR1_chr8_16102881_16197651	16103105	GTGTGTAT others(21): Show GTGTGTATATATGTATACATATATGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG02602.hp2 others(3): Show HG00642.hp1 HG01081.hp1 HG02602.hp2 HG03688.hp2 HG03831.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0049 a0001c0001t0005 a0001c0001t0010 a0001c0001t0049	a0001c0001t0005g0042 a0001c0001t0010g0012 a0001c0001t0010g0194 others(3): Show a0001c0001t0005g0042 a0001c0001t0010g0012 a0001c0001t0010g0194 a0001c0001t0010g0266 a0001c0001t0010g0309 a0001c0001t0049g0330	6	330	0.0182	-28	c.69 others(39): Show c.6952_*6979delTATACATATATGTATACATATATACACA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding		4775		chr8	TogoVar
MSR1_chr8_16102881_16197651	16103139	ATATATGT others(21): Show ATATATGTATACATATATGTATATGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01099.hp2 others(63): Show HG00738.hp1 HG01099.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp2 HG01496.hp1 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp1 NA18990.hp1 NA18995.hp1 NA19054.hp1 NA19057.hp1 NA19070.hp2 NA19078.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0010	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0003c0004 a0004c0005 a0008c0020 a0010c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0007t0004 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0017 a0002c0002t0022 a0003c0004t0014 a0004c0005t0006 a0008c0020t0032 a0010c0014t0006	a0001c0001t0001g0230 a0001c0001t0004g0008 a0001c0001t0004g0024 others(63): Show a0001c0001t0001g0230 a0001c0001t0004g0008 a0001c0001t0004g0024 a0001c0001t0004g0052 a0001c0001t0004g0100 a0001c0001t0004g0162 a0001c0001t0004g0179 a0001c0001t0004g0204 a0001c0001t0004g0207 a0001c0001t0004g0237 a0001c0001t0004g0268 a0001c0001t0004g0279 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0294 a0001c0001t0004g0303 a0001c0001t0004g0310 a0001c0001t0004g0316 a0001c0001t0005g0035 a0001c0001t0005g0086 a0001c0001t0005g0182 a0001c0001t0005g0206 a0001c0001t0005g0228 a0001c0001t0005g0252 a0001c0001t0005g0315 a0001c0001t0006g0004 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0161 a0001c0001t0010g0245 a0001c0001t0014g0043 a0001c0001t0014g0044 a0001c0001t0014g0267 a0001c0001t0018g0073 a0001c0001t0018g0177 a0001c0001t0019g0078 a0001c0001t0019g0151 a0001c0001t0028g0173 a0001c0001t0029g0077 a0001c0001t0030g0295 a0001c0001t0031g0306 a0001c0001t0037g0191 a0001c0001t0040g0155 a0001c0001t0041g0150 a0001c0007t0004g0163 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0004g0097 a0002c0002t0004g0106 a0002c0002t0004g0108 a0002c0002t0004g0109 a0002c0002t0004g0110 a0002c0002t0004g0118 a0002c0002t0004g0135 a0002c0002t0004g0136 a0002c0002t0005g0116 a0002c0002t0005g0147 a0002c0002t0006g0017 a0002c0002t0006g0092 a0002c0002t0017g0134 a0002c0002t0022g0139 a0003c0004t0014g0060 a0004c0005t0006g0312 a0008c0020t0032g0081 a0010c0014t0006g0039	66	330	0.2000	-28	c.69 others(39): Show c.6918_*6945delCACACATATACATATATGTATACATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding		4741		chr8	TogoVar
MSR1_chr8_16102881_16197651	16139750	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0033 a0007c0013t0033	a0007c0013t0033g0005 a0007c0013t0033g0005	1	330	0.0030	-28	c.103 others(47): Show c.1033+3780_1033+3807delATATTTTTTTTTTTTTTTTTTTTTTT TT	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	8/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16179655	GAATCACC others(21): Show GAATCACCTGAGGTCAGGATTTCGAGACC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	330	0.0030	-28	c.-4- others(43): Show c.-4-1691_-4-1664delGGTCTCGAAATCCTGACCTCAGGTGATT	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRA_chr8_10049292_10433891	10334165	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTATTTATGTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01167.hp1 others(18): Show HG00323.hp2 HG00735.hp1 HG01167.hp1 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG02056.hp1 HG03239.hp1 HG04115.hp2 NA18939.hp1 NA18960.hp1 NA18969.hp1 NA18970.hp1 NA18982.hp1 NA18994.hp2 NA18999.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19070.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 a0001c0001t0001 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(18): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0012g0035 a0001c0002t0002g0258	21	286	0.0734	-28	c.543 others(47): Show c.543+14195_543+14222delATTTATGTGTGTGTGTGTGTGTGTGT GT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MT4_chr16_56560073_56573957	56566700	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(27): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG02015.hp1 HG02071.hp1 HG02145.hp2 HG02258.hp2 HG02602.hp2 HG02683.hp1 HG03130.hp1 HG03453.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18946.hp2 NA18952.hp1 NA18965.hp2 NA18966.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19006.hp1 NA19058.hp2 NA19075.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088	30	428	0.0701	-28	c.32- others(43): Show c.32-1030_32-1003delAGAAAGAAAGAAAGAAAGAAAGAAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566721	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG03471.hp1 others(1): Show HG01109.hp1 HG02451.hp2 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187	4	428	0.0094	-28	c.32- others(42): Show c.32-1026_32-999delAGAAAGAAAGAAAGAAAGAAAGAAGGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566729	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	428	0.0023	-28	c.32- others(42): Show c.32-1018_32-991delAGAAAGAAAGAAAGAAGGAAGGAAGGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566799	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG02896.hp1 others(2): Show HG00099.hp2 HG01192.hp2 HG02896.hp1 HG03491.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098	5	428	0.0117	-28	c.32- others(41): Show c.32-949_32-922delGAAAGAAAGAAAGAAAGAAAAGAAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566807	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0067 a0001c0001t0001g0068	2	428	0.0047	-28	c.32- others(41): Show c.32-941_32-914delGAAAGAAAGAAAAGAAAGAAAGAAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56568213	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18965.hp1 HG01123.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0354 a0001c0001t0001g0289 a0001c0001t0001g0354	2	428	0.0047	-28	c.97+ others(41): Show c.97+417_97+444delAAGAAAGAAAGAAAGAAAGAAAGAAAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA1_chr14_105414827_105475729	105437266	TGTCCTCA others(21): Show TGTCCTCATGGGCATGTGCCTGCAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0046 a0003c0008t0001g0046	1	304	0.0033	-28	c.29- others(43): Show c.29-1393_29-1366delATGTGCCTGCAGGTGCGTCCTCATGGGC	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA3_chr2_42563632_42761946	42586557	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(161): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0002c0002 a0003c0005 a0004c0008 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0003t0001 a0001c0004t0001 a0001c0007t0010 a0001c0010t0002 a0002c0002t0004 a0003c0005t0002 a0004c0008t0003 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 others(161): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0244 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0287 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0094 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0202 a0001c0001t0003g0218 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0233 a0001c0001t0003g0265 a0001c0001t0003g0283 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0104 a0001c0001t0004g0208 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0268 a0001c0001t0004g0282 a0001c0001t0005g0127 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0262 a0001c0001t0008g0242 a0001c0001t0008g0261 a0001c0001t0008g0299 a0001c0001t0010g0276 a0001c0001t0012g0143 a0001c0001t0012g0249 a0001c0001t0013g0303 a0001c0001t0015g0183 a0001c0001t0016g0246 a0001c0001t0018g0306 a0001c0001t0021g0159 a0001c0001t0023g0148 a0001c0001t0024g0147 a0001c0001t0025g0006 a0001c0001t0027g0308 a0001c0001t0028g0181 a0001c0003t0001g0115 a0001c0004t0001g0027 a0001c0007t0010g0277 a0001c0010t0002g0210 a0002c0002t0004g0295 a0003c0005t0002g0293 a0004c0008t0003g0307 a0005c0009t0001g0171	164	312	0.5256	-28	c.190 others(45): Show c.190+7389_190+7416delCACACACACACACACACACACACACACA	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42632900	CAAAGATC others(21): Show CAAAGATCTATCTTTGAATAGAAATATTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	312	0.0032	-28	c.318 others(45): Show c.318-7266_318-7239delCTATCTTTGAATAGAAATATTTAAAGAT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTAP_chr9_21797636_21872081	21802985	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0334 a0002c0002t0003g0334	1	382	0.0026	-28	c.33+ others(41): Show c.33+229_33+256delACACACACACACACACACACACACACAC	MTAP	ENSG00000099810.21	transcript	ENST00000644715.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
MTCL1_chr18_8700556_8837778	8832843	TCCATAGC others(21): Show TCCATAGCTAGGGGAATGAGGGAGAGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0052 a0052	a0052c0058 a0052c0058	a0052c0058t0004 a0052c0058t0004	a0052c0058t0004g0328 a0052c0058t0004g0328	1	336	0.0030	-28	c.10 others(39): Show c.1004_*1031delCCATAGCTAGGGGAATGAGGGAGAGAGG	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding		66		chr18	TogoVar
MTFR1_chr8_65639734_65715562	65713439	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	348	0.0029	-28	c.43 others(39): Show c.4396_*4423delACACACACACACACACACACACACACAC	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding		2878		chr8	TogoVar
MTG2_chr20_62178028_62208568	62204337	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0107 a0001c0001t0016g0107	1	412	0.0024	-28	c.32 others(39): Show c.3261_*3288delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding		770		chr20	TogoVar
MTG2_chr20_62178028_62208568	62204369	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01070.hp1 HG00280.hp2 HG00639.hp1 HG01070.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0134 a0004c0005t0002g0153 a0004c0005t0002g0254 a0004c0005t0002g0134 a0004c0005t0002g0153 a0004c0005t0002g0254	3	412	0.0073	-28	c.32 others(39): Show c.3293_*3320delGTGTGTGTGTGTGTGTGTGTGTGAGAGA	MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding		802		chr20	TogoVar
MTHFD1_chr14_64383353_64465025	64397128	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0003 a0010c0012t0001g0003	1	342	0.0029	-28	c.42- others(43): Show c.42-3663_42-3636delAAAAAAAAAATATATATATATATATATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD1_chr14_64383353_64465025	64397164	TATATATA others(21): Show TATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	342	0.0029	-28	c.42- others(43): Show c.42-3627_42-3600delTATATATATATATATATATATATATAAA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFS_chr15_79838547_79902014	79840211	AATATATA others(21): Show AATATATATATATAATATATATAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA19064.hp1 NA18963.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	2	394	0.0051	-28	c.49 others(39): Show c.4971_*4998delATATATTATATATATTATATATATATAT	MTHFS	ENSG00000136371.11	transcript	ENST00000258874.4	protein_coding		3335		chr15	TogoVar
MTIF2_chr2_55231595_55274231	55272821	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(65): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00741.hp1 HG01192.hp1 HG01243.hp2 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02738.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG04204.hp2 NA18942.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0006c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0076 others(48): Show a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0105 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0270 a0002c0004t0001g0085 a0002c0004t0002g0044 a0002c0004t0002g0278 a0002c0004t0002g0280 a0002c0004t0002g0281 a0006c0008t0001g0071	68	384	0.1771	-28	c.-39 others(39): Show c.-3917_-3890delTATATATATATATATATATATATATATA	MTIF2	ENSG00000085760.15	transcript	ENST00000263629.9	protein_coding		3591		chr2	TogoVar
MTM1_chrX_150563621_150678143	150583665	AATTTATA others(21): Show AATTTATATATAAATAATTTGTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp1 HG02818.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0113 a0001c0001t0001g0115	2	277	0.0072	-28	c.-10 others(45): Show c.-10-8932_-10-8905delTATAAATAATTTGTATATATTATTTATA	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTMR3_chr22_29878174_30035868	29906278	GTCTGTCT others(21): Show GTCTGTCTGTCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0012 a0007c0012t0012	a0007c0012t0012g0020 a0007c0012t0012g0020	1	334	0.0030	-28	c.-13 others(49): Show c.-138+22923_-138+22950delGTCTGTCTATCTATCTATCTATCT ATCT	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTMR3_chr22_29878174_30035868	29906282	GTCTGTCT others(21): Show GTCTGTCTATCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	334	0.0030	-28	c.-13 others(49): Show c.-138+22927_-138+22954delGTCTATCTATCTATCTATCTATCT ATCT	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTMR3_chr22_29878174_30035868	29949098	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0003 a0001c0001t0071g0003	1	334	0.0030	-28	c.-13 others(47): Show c.-137-7919_-137-7892delACACACACACACACACACACACACAC AC	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTMR8_chrX_64263081_64400452	64287999	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG00639.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0125 a0001c0001t0001g0036 a0001c0001t0001g0125	2	190	0.0105	-28	c.148 others(49): Show c.1482-16954_1482-16927delTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MTMR8	ENSG00000102043.16	transcript	ENST00000374852.4	protein_coding	12/13			chrX	TogoVar
MTO1_chr6_73456737_73514236	73461534	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01169.hp1 HG02451.hp2 others(2): Show HG00741.hp2 HG01169.hp1 HG02451.hp2 HG03453.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0035 a0001c0001t0069 others(2): Show a0001c0001t0006 a0001c0001t0035 a0001c0001t0069 a0001c0001t0090 a0001c0001t0091	a0001c0001t0006g0266 a0001c0001t0035g0177 a0001c0001t0069g0250 others(2): Show a0001c0001t0006g0266 a0001c0001t0035g0177 a0001c0001t0069g0250 a0001c0001t0090g0124 a0001c0001t0091g0125	5	396	0.0126	-28	c.-32 others(37): Show c.-320_-293delAAATAAATAAATAAATAAATAAATAAAT	MTO1	ENSG00000135297.17	transcript	ENST00000498286.6	protein_coding		202		chr6	TogoVar
MTREX_chr5_55302989_55430579	55366433	TGAGCAGC others(21): Show TGAGCAGCCTTGCAGTGGGGGACCACAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	320	0.0031	-28	c.166 others(45): Show c.1660-286_1660-259delGCCTTGCAGTGGGGGACCACAAAGAGCA	MTREX	ENSG00000039123.16	transcript	ENST00000230640.10	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)