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 (≤).

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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
SLC7A7_chr14_22768222_22820435	22812773	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0367 a0001c0002t0002g0367	1	402	0.0025	42	c.499 others(57): Show c.499+126_499+127insTATATATATATATATATATATATATATATA TATATATATATA	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC8A1_chr2_40092270_40457090	40245223	G G	GCTGTTCA others(35): Show GCTGTTCATGTACAGGTCTCTCTCTCCCTAGTGAAACTCAGCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00642.hp1 others(52): Show HG00408.hp2 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03654.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18950.hp2 NA18953.hp2 NA18957.hp2 NA18979.hp1 NA18982.hp1 NA18989.hp2 NA18993.hp1 NA19000.hp2 NA19010.hp2 NA19068.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(48): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0047 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0111 a0001c0001t0119 a0001c0001t0120 a0001c0001t0127 a0001c0001t0148 a0001c0001t0155 a0001c0001t0160 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0178 a0001c0001t0181 a0001c0001t0182 a0001c0001t0187 a0001c0001t0189	a0001c0001t0001g0154 a0001c0001t0003g0054 a0001c0001t0003g0212 others(52): Show a0001c0001t0001g0154 a0001c0001t0003g0054 a0001c0001t0003g0212 a0001c0001t0005g0020 a0001c0001t0005g0209 a0001c0001t0006g0136 a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0016g0017 a0001c0001t0016g0152 a0001c0001t0021g0031 a0001c0001t0047g0011 a0001c0001t0059g0215 a0001c0001t0060g0042 a0001c0001t0061g0055 a0001c0001t0063g0053 a0001c0001t0064g0095 a0001c0001t0065g0065 a0001c0001t0071g0234 a0001c0001t0076g0148 a0001c0001t0077g0147 a0001c0001t0078g0066 a0001c0001t0079g0145 a0001c0001t0080g0082 a0001c0001t0085g0196 a0001c0001t0086g0025 a0001c0001t0088g0062 a0001c0001t0089g0140 a0001c0001t0090g0030 a0001c0001t0092g0135 a0001c0001t0093g0128 a0001c0001t0095g0221 a0001c0001t0099g0180 a0001c0001t0100g0236 a0001c0001t0101g0199 a0001c0001t0102g0100 a0001c0001t0103g0123 a0001c0001t0105g0045 a0001c0001t0107g0049 a0001c0001t0108g0024 a0001c0001t0111g0183 a0001c0001t0119g0121 a0001c0001t0120g0077 a0001c0001t0127g0150 a0001c0001t0148g0126 a0001c0001t0155g0201 a0001c0001t0160g0010 a0001c0001t0162g0208 a0001c0001t0163g0193 a0001c0001t0164g0060 a0001c0001t0178g0014 a0001c0001t0181g0076 a0001c0001t0182g0040 a0001c0001t0187g0083 a0001c0001t0189g0118	55	236	0.2331	42	c.180 others(63): Show c.1809-66772_1809-66731dupAGCTGAGTTTCACTAGGGAGAGAG AGACCTGTACATGAACAG	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A3_chr14_70039215_70193951	70192015	T T	TAATAATA others(35): Show TAATAATAATAATTAATAATAATAATTATTATTAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG03139.hp1 HG02258.hp2 HG02647.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0003 a0001c0001t0060 a0002c0007t0010 a0001c0001t0003 a0001c0001t0060 a0002c0007t0010	a0001c0001t0003g0129 a0001c0001t0060g0032 a0002c0007t0010g0019 a0001c0001t0003g0129 a0001c0001t0060g0032 a0002c0007t0010g0019	3	296	0.0101	42	c.-37 others(53): Show c.-3700_-3699insTATTATTATTAATAATAATTATTATTATTAATTA TTATTATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3065		chr14	TogoVar
SLC9A4_chr2_102468226_102538972	102510272	C C	CAGATACA others(35): Show CAGATACAGATACAGATACAGATATAGATATAGATATAGATAT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0227 a0001c0020t0001g0227	1	382	0.0026	42	c.148 others(61): Show c.1488+1344_1488+1345insCAGATACAGATACAGATATAGATATA GATATAGATATAGATA	SLC9A4	ENSG00000180251.5	transcript	ENST00000295269.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A9_chr3_143260222_143853468	143449669	T T	TAATTATA others(35): Show TAATTATATAATTATATAAAATATAATTATATAAAATATAATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0020 a0001c0010t0020	a0001c0010t0020g0034 a0001c0010t0020g0034	1	108	0.0093	42	c.146 others(63): Show c.1469+17367_1469+17368insTATTATATTTTATATAATTATATT TTATATAATTATATAATT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9B2_chr4_103017253_103081761	103057268	A A	ATGTATAT others(35): Show ATGTATATATATATATGTATGTGTATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0058 a0003c0004t0021g0058	1	356	0.0028	42	c.442 others(57): Show c.442+532_442+533insCACACATATATATATATATACACATACATA TATATATATACA	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	4/11			chr4	TogoVar
SLCO1A2_chr12_21259600_21339917	21299958	G G	GTGTGTGT others(35): Show GTGTGTGTGTACATATATATGTGTATATATGTGTGTAGATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	310	0.0032	42	c.910 others(57): Show c.910+348_910+389dupTATATCTACACACATATATACACATATATA TGTACACACACA	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	8/14			chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20868311	G G	GACAGATT others(35): Show GACAGATTGTCAACTGTTTGGGGGGTCAGCCACCCTAAATCCC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03688.hp2 HG03654.hp2 HG03688.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0123 a0001c0008t0006g0124 a0001c0008t0006g0123 a0001c0008t0006g0124	2	284	0.0070	42	c.727 others(59): Show c.727+5459_727+5500dupCAGATTGTCAACTGTTTGGGGGGTCAGC CACCCTAAATCCCA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(35): Show GTATGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	284	0.0035	42	c.21 others(53): Show c.2187_*2188insTATGTGTGTGTGTGTGTGTGTATATATATATATA TATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02132.hp1 HG04184.hp2 HG00323.hp2 HG02132.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0006 a0001c0007t0002 a0001c0001t0003 a0001c0001t0006 a0001c0007t0002	a0001c0001t0003g0124 a0001c0001t0006g0157 a0001c0007t0002g0148 a0001c0001t0003g0124 a0001c0001t0006g0157 a0001c0007t0002g0148	3	190	0.0158	42	c.646 others(61): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(35): Show TAGATAGATAGATAGATAGATAGATTAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0160 a0001c0002t0006g0160	1	190	0.0053	42	c.647 others(61): Show c.647-78627_647-78626insAGATAGATAGATAGATAGATAGATTA GATAGATAGATAGATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047119	A A	ATATATAT others(35): Show ATATATATAAATATATATATAATATATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG00735.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0051 a0001c0002t0001 a0001c0001t0051 a0001c0002t0001	a0001c0001t0051g0171 a0001c0002t0001g0096 a0001c0001t0051g0171 a0001c0002t0001g0096	2	190	0.0105	42	c.647 others(61): Show c.647-47762_647-47761insTATATATAAATATATATATAATATAT ATATAAATATATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62642181	C C	CCAGAGGG others(35): Show CCAGAGGGGGTGGTGAAGTGTCTGTGGTTTGGAGTTTAGTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0044 a0001c0007t0002g0044	1	432	0.0023	42	c.-46 others(51): Show c.-469_-468insCAGAGGGGGTGGTGAAGTGTCTGTGGTTTGGAGTTT AGTTTT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding		321		chr20	TogoVar
SLCO5A1_chr8_69662046_69839978	69753357	A A	AGTAAAGA others(35): Show AGTAAAGACAAATAGAGACAAATAAGCAAGATAAAAAGGAGAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0070 a0002c0002t0029g0070	1	280	0.0036	42	c.125 others(61): Show c.1258+2066_1258+2067insGTCTCCTTTTTATCTTGCTTATTTGT CTCTATTTGTCTTTAC	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	4/9			chr8	TogoVar
SLIT2_chr4_20246905_20625561	20472256	A A	ATATATAT others(35): Show ATATATATCTATATATCGATATATAGATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	230	0.0044	42	c.467 others(59): Show c.467+4434_467+4435insATATATCTATATATCGATATATAGATAT ATATCTATATATCT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472278	A A	ATATATAG others(35): Show ATATATAGATATATATCTATATATCTATATATAGATATATATC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0010 a0001c0001t0017	a0001c0001t0010g0218 a0001c0001t0017g0219 a0001c0001t0010g0218 a0001c0001t0017g0219	2	230	0.0087	42	c.467 others(59): Show c.467+4461_467+4462insGATATATATCTATATATCTATATATAGA TATATATCTATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472278	A A	ATATATAG others(35): Show ATATATAGATCTATATATAGATATAGATATCTATATATAGATC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02280.hp1 HG02293.hp2 others(1): Show HG01123.hp2 HG02280.hp1 HG02293.hp2 HG02886.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0013 a0001c0001 a0001c0002 a0007c0013	a0001c0001t0056 a0001c0001t0062 a0001c0002t0028 others(1): Show a0001c0001t0056 a0001c0001t0062 a0001c0002t0028 a0007c0013t0046	a0001c0001t0056g0044 a0001c0001t0062g0035 a0001c0002t0028g0156 others(1): Show a0001c0001t0056g0044 a0001c0001t0062g0035 a0001c0002t0028g0156 a0007c0013t0046g0060	4	230	0.0174	42	c.467 others(59): Show c.467+4461_467+4462insGATCTATATATAGATATAGATATCTATA TATAGATCTATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472378	A A	ATATATAT others(35): Show ATATATATATATCTATATATATAGATATATAGATATCTATATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(80): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp2 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18941.hp1 NA18944.hp2 NA18952.hp2 NA18969.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19078.hp2 NA19082.hp1 NA19082.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0016 a0001c0021 a0001c0022 a0001c0024 a0001c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0039 a0001c0001t0047 a0001c0001t0054 a0001c0001t0063 a0001c0001t0071 a0001c0001t0074 a0001c0001t0078 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0016 a0001c0002t0019 a0001c0002t0022 a0001c0002t0024 a0001c0002t0026 a0001c0002t0029 a0001c0002t0034 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0048 a0001c0002t0053 a0001c0002t0055 a0001c0002t0059 a0001c0002t0070 a0001c0003t0009 a0001c0003t0027 a0001c0003t0032 a0001c0006t0025 a0001c0006t0042 a0001c0007t0057 a0001c0007t0065 a0001c0008t0001 a0001c0008t0031 a0001c0016t0066 a0001c0021t0017 a0001c0022t0011 a0001c0024t0004 a0001c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0090 a0001c0001t0001g0108 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0002g0074 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0004g0204 a0001c0001t0004g0213 a0001c0001t0005g0004 a0001c0001t0005g0057 a0001c0001t0005g0095 a0001c0001t0005g0119 a0001c0001t0005g0137 a0001c0001t0005g0163 a0001c0001t0006g0145 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0010g0218 a0001c0001t0012g0014 a0001c0001t0012g0016 a0001c0001t0012g0017 a0001c0001t0012g0019 a0001c0001t0012g0022 a0001c0001t0013g0172 a0001c0001t0017g0184 a0001c0001t0017g0219 a0001c0001t0018g0223 a0001c0001t0027g0033 a0001c0001t0029g0189 a0001c0001t0030g0225 a0001c0001t0039g0142 a0001c0001t0047g0068 a0001c0001t0054g0157 a0001c0001t0063g0226 a0001c0001t0071g0173 a0001c0001t0074g0018 a0001c0001t0078g0023 a0001c0002t0001g0076 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0125 a0001c0002t0004g0205 a0001c0002t0004g0224 a0001c0002t0007g0177 a0001c0002t0009g0102 a0001c0002t0009g0148 a0001c0002t0010g0215 a0001c0002t0010g0216 a0001c0002t0013g0171 a0001c0002t0016g0126 a0001c0002t0019g0181 a0001c0002t0022g0067 a0001c0002t0022g0120 a0001c0002t0024g0009 a0001c0002t0026g0011 a0001c0002t0029g0217 a0001c0002t0034g0190 a0001c0002t0043g0064 a0001c0002t0044g0003 a0001c0002t0045g0006 a0001c0002t0048g0111 a0001c0002t0053g0160 a0001c0002t0055g0144 a0001c0002t0059g0025 a0001c0002t0070g0170 a0001c0003t0009g0154 a0001c0003t0027g0028 a0001c0003t0032g0012 a0001c0006t0025g0026 a0001c0006t0025g0027 a0001c0006t0042g0084 a0001c0007t0057g0007 a0001c0007t0065g0197 a0001c0008t0001g0138 a0001c0008t0031g0021 a0001c0016t0066g0094 a0001c0021t0017g0229 a0001c0022t0011g0198 a0001c0024t0004g0211 a0001c0025t0001g0179	83	230	0.3609	42	c.467 others(59): Show c.467+4562_467+4563insATATCTATATATATAGATATATAGATAT CTATATCTATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472378	A A	ATATATAT others(35): Show ATATATATATCTATATATATAGAGATATAGATATCTATATATC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0149 a0001c0004t0009g0149	1	230	0.0044	42	c.467 others(59): Show c.467+4562_467+4563insATCTATATATATAGAGATATAGATATCT ATATATCTATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472378	A A	ATATATAT others(35): Show ATATATATATCTATATATATAGAGATATAGATATCTATATCTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03942.hp2 HG02698.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0037 a0001c0004t0002 a0001c0001t0037 a0001c0004t0002	a0001c0001t0037g0187 a0001c0004t0002g0124 a0001c0001t0037g0187 a0001c0004t0002g0124	2	230	0.0087	42	c.467 others(59): Show c.467+4562_467+4563insATCTATATATATAGAGATATAGATATCT ATATCTCTATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472378	A A	ATATATCT others(35): Show ATATATCTATATCTATAGATATAGATATATAGATATCTATATC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0230 a0001c0001t0006g0129 a0001c0001t0003g0230 a0001c0001t0006g0129	2	230	0.0087	42	c.467 others(59): Show c.467+4560_467+4561insCTATATCTATAGATATAGATATATAGAT ATCTATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472380	A A	ATATATAT others(35): Show ATATATATATCTATATATATAGAGATATAGATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01261.hp1 others(3): Show HG00099.hp1 HG00099.hp2 HG01261.hp1 HG01516.hp2 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0001g0135 a0001c0001t0002g0062 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0135 a0001c0001t0002g0062 a0001c0001t0002g0143 a0001c0001t0004g0228 a0001c0002t0002g0121	6	230	0.0261	42	c.467 others(59): Show c.467+4562_467+4563insATATCTATATATATAGAGATATAGATAT CTATATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLITRK3_chr3_165181720_165201384	165183588	A A	AACTATAT others(35): Show AACTATATACATGTATATACAATGTATATACATATATAATAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	42	c.43 others(53): Show c.4308_*4309insACTATTATATATGTATATACATTGTATATACATG TATATAGT	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		3131		chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(35): Show CTTTTTTTTCTTTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	310	0.0032	42	c.150 others(61): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTCTTTTTCTTTT TTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(35): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	310	0.0032	42	c.150 others(61): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	310	0.0032	42	c.150 others(61): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258267	T T	TATAGATA others(35): Show TATAGATAGATAGATATAGATAGATAGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA19079.hp1 HG02132.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0004 a0001c0001t0001g0022	2	398	0.0050	42	c.-37 others(53): Show c.-3725_-3724insCTATCTATCTATCTATCTATCTATCTATATCTAT CTATCTAT	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3704		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	386	0.0026	42	c.299 others(61): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX9_chr21_44935029_44981973	44972960	G G	GTCAGGCA others(35): Show GTCAGGCAGTTGCACTGCTTGTCCGGGGCGGGTCACAGGACGA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	334	0.0030	42	c.501 others(57): Show c.501-207_501-206insGTCACAGGACGATCAGGCAGTTGCACTGCT TGTCCGGGGCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMAGP_chr12_51239558_51275415	51248434	A A	ACACACAC others(35): Show ACACACACACACACACTCTCACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0268 a0001c0001t0008g0268	1	410	0.0024	42	c.35- others(57): Show c.35-1604_35-1603insAGAGAGAGAGAGAGAGAGAGAGTGAGAGTG TGTGTGTGTGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	219	0.0046	42	c.184 others(59): Show c.1840-480_1840-479insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47747440	A A	AAAATATA others(35): Show AAAATATAAATATAAATATAAATATAAATATAAATATAAATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG02559.hp2 others(9): Show HG01346.hp1 HG02135.hp1 HG02559.hp2 HG02572.hp1 HG03579.hp1 HG03834.hp1 HG04204.hp2 NA18943.hp2 NA18955.hp2 NA18956.hp1 NA18967.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200	12	219	0.0548	42	c.316 others(59): Show c.316-1489_316-1448dupATATTTATATTTATATTTATATTTATAT TTATATTTATATTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	213	0.0047	42	c.125 others(59): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMG1_chr16_18799860_18931408	18827432	A A	ATATATAT others(35): Show ATATATATATATAGGTATAAATATACCTATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01099.hp1 others(11): Show HG00323.hp1 HG00735.hp2 HG01099.hp1 HG01358.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02895.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03688.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0004 a0009c0019 a0011c0020 a0001c0004 a0009c0019 a0011c0020	a0001c0004t0004 a0009c0019t0004 a0011c0020t0004 a0001c0004t0004 a0009c0019t0004 a0011c0020t0004	a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0013 others(11): Show a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0020 a0001c0004t0004g0021 a0001c0004t0004g0023 a0001c0004t0004g0025 a0009c0019t0004g0022 a0011c0020t0004g0024	14	300	0.0467	42	c.974 others(59): Show c.9741+598_9741+599insAAAATATATATATATAGGTATATTTATA CCTATATATATATA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCTCTCTC others(35): Show TCTCTCTCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02615.hp2 HG03688.hp1 HG01358.hp2 HG02615.hp2 HG03688.hp1	a0001 a0009 a0001 a0009	a0001c0004 a0009c0019 a0001c0004 a0009c0019	a0001c0004t0004 a0009c0019t0004 a0001c0004t0004 a0009c0019t0004	a0001c0004t0004g0012 a0001c0004t0004g0013 a0009c0019t0004g0022 a0001c0004t0004g0012 a0001c0004t0004g0013 a0009c0019t0004g0022	3	300	0.0100	42	c.621 others(59): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGAGAGAG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0189 a0001c0001t0055g0189	1	320	0.0031	42	c.67 others(53): Show c.6765_*6766insGTGTGTGTATATATATATATATATATATATATAT ATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	42	c.67 others(53): Show c.6765_*6766insGTGTGTATATATATATATATATATATATATATAT ATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMIM36_chr17_55444856_55516452	55501214	A A	ATATAGTA others(35): Show ATATAGTATTATATTTTATATTTTATAATATATAATATAGTAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0279 a0001c0001t0014g0279	1	340	0.0029	42	c.17 others(61): Show c.174+9664_*174+9665insATACTATATTATATATTATAAAATAT AAAATATAATACTATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC1_chr14_69874416_70037366	69875963	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp2 HG02698.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0018 a0001c0001t0001g0020	2	270	0.0074	42	c.-37 others(53): Show c.-3716_-3715insATATATATATATATATATATATATATATATATAT ATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		3452		chr14	TogoVar
SMOC2_chr6_168436184_168672992	168636864	G G	GCCTCCCT others(35): Show GCCTCCCTCCTCCCGCCTCCCTCCTCCCGCCTCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0053 a0001c0002t0007g0053	1	180	0.0056	42	c.908 others(61): Show c.908-13790_908-13789insGCCTCCCTCCTCCCACCTCCCTCCTC CCGCCTCCCTCCTCCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168636878	G G	GCCTCCCT others(35): Show GCCTCCCTCCTCCCGCCTCCCTCCTCCCACCTCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG03139.hp2 others(1): Show HG01884.hp1 HG01891.hp1 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0002t0002g0004 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0002t0002g0004 a0001c0002t0002g0036	4	180	0.0222	42	c.908 others(61): Show c.908-13790_908-13789insGCCTCCCTCCTCCCACCTCCCTCCTC CCACCTCCCTCCTCCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMR3B_chr4_70378131_70395244	70391022	C C	CACACACA others(35): Show CACACACACATATATACACATACATATATATATACACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 NA19076.hp1 HG02572.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0001 a0001c0001t0001g0047	2	462	0.0043	42	c.11 others(53): Show c.1174_*1175insACACACACATATATACACATACATATATATATAC ACATACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		779		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391058	C C	CATATATA others(35): Show CATATATATATATACACATACATATATATATATACACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02922.hp1 HG03540.hp1 others(1): Show HG02886.hp2 HG02922.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0005g0046 a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0005g0046	4	462	0.0087	42	c.12 others(53): Show c.1210_*1211insATATATATATATACACATACATATATATATATAC ACATACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		815		chr4	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG01975.hp1 others(5): Show HG00621.hp1 HG01109.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG03139.hp2 NA19083.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0022 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0022 a0001c0001t0034 a0001c0001t0083 a0001c0003t0036	a0001c0001t0002g0094 a0001c0001t0002g0106 a0001c0001t0002g0108 others(5): Show a0001c0001t0002g0094 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0008g0048 a0001c0001t0022g0310 a0001c0001t0034g0092 a0001c0001t0083g0309 a0001c0003t0036g0275	8	418	0.0191	42	c.77 others(53): Show c.7756_*7757insATATATATATATATATATATATATATATATATAT ATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMURF1_chr7_99022440_99149108	99063263	A A	AAGATTTA others(35): Show AAGATTTATATATATATATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	264	0.0038	42	c.56- others(57): Show c.56-1427_56-1426insAATCTTATATATATATATATATATATATAT ATATATAAATCT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD2_chr1_214276159_214342131	214299482	T T	TATATATA others(35): Show TATATATATATATATATATATATATACACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp2 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0273 a0001c0001t0004g0285 a0001c0001t0001g0273 a0001c0001t0004g0285	2	380	0.0053	42	c.174 others(59): Show c.174-5704_174-5703insTATATATATATATATATATATATACACA TATATATATATACA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348077	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATACACACATACATAC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	150	0.0067	42	c.228 others(59): Show c.228+6953_228+6954insGTATGTATGTGTGTATATATATATATAT ATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348077	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	150	0.0067	42	c.228 others(59): Show c.228+6953_228+6954insGTATATATATATATATATATATATATAT ATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481607	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0049 a0001c0011t0002g0049	1	150	0.0067	42	c.164 others(61): Show c.164+25446_164+25447insGTATATATATATATATATATATATAT ATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403469	A A	AAGAAAGG others(35): Show AAGAAAGGGACAGGGTTCCTGGGAGAAAGGGAGGGGCTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0088 a0001c0006t0001g0088	1	380	0.0026	42	c.-33 others(53): Show c.-3387_-3346dupCCCCCAGCCCCTCCCTTTCTCCCAGGAACCCTGT CCCTTTCT	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3300		chr9	TogoVar

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