Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
SMIM10_chrX_134985991_134997473	134989054	TC TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	322	0.0031	-1	c.-20 others(6): Show c.-2041delC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		1936		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134989067	AT AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	322	0.0031	-1	c.-20 others(6): Show c.-2028delT	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		1923		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134992494	AT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01074.hp1 others(19): Show HG00099.hp2 HG00735.hp1 HG01074.hp1 HG01168.hp1 HG01192.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01975.hp2 HG02040.hp1 HG02071.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	22	322	0.0683	-1	c.11 others(6): Show c.1148delT	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		22		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134992497	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01952.hp1 HG01993.hp2 others(21): Show HG00642.hp1 HG01952.hp1 HG01993.hp2 HG02300.hp1 HG02698.hp1 HG02976.hp2 HG03704.hp1 NA18747.hp1 NA18945.hp1 NA18952.hp1 NA18963.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA19001.hp1 NA19003.hp2 NA19011.hp1 NA19058.hp1 NA19067.hp1 NA19078.hp2 NA19080.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0012g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0012g0000 a0001c0001t0014g0000	24	322	0.0745	-1	c.11 others(6): Show c.1151delG	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		25		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134993429	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(33): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01069.hp1 HG01070.hp1 HG01243.hp1 HG01975.hp1 HG02083.hp1 HG02257.hp1 HG02523.hp1 HG02615.hp1 HG02735.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03491.hp2 HG04228.hp1 NA18906.hp1 NA18940.hp1 NA18949.hp2 NA18950.hp2 NA18957.hp1 NA18980.hp2 NA18995.hp1 NA19001.hp2 NA19010.hp1 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19075.hp1 NA19085.hp1 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0002t0004	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 a0001c0001t0013g0000 a0001c0002t0004g0000	36	322	0.1118	-1	c.20 others(6): Show c.2083delA	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		957		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134993552	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	322	0.0031	-1	c.22 others(6): Show c.2206delA	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		1080		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134993879	AT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0000 a0001c0001t0013g0000	1	322	0.0031	-1	c.25 others(6): Show c.2533delT	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		1407		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134994492	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA19089.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(7): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0011g0000	160	322	0.4969	-1	c.31 others(6): Show c.3146delA	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		2020		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134994712	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(45): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03516.hp1 HG03516.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18966.hp1 NA18972.hp2 NA19001.hp2 NA19043.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0002t0004	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 others(2): Show a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0001t0012g0000 a0001c0002t0004g0000	48	322	0.1491	-1	c.33 others(6): Show c.3366delA	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		2240		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134995297	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01952.hp1 HG01975.hp1 others(5): Show HG00408.hp1 HG01952.hp1 HG01975.hp1 HG02976.hp2 HG03239.hp2 NA19030.hp2 NA19085.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0010g0000 a0001c0001t0012g0000	8	322	0.0248	-1	c.39 others(6): Show c.3951delT	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		2825		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134996781	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	322	0.0031	-1	c.54 others(6): Show c.5435delC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4309		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134996827	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18957.hp2 NA20129.hp2 HG02976.hp2 NA18957.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0000 a0001c0001t0012g0000 a0001c0001t0004g0000 a0001c0001t0012g0000	3	322	0.0093	-1	c.54 others(6): Show c.5481delA	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4355		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134997151	GA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	322	0.0031	-1	c.58 others(6): Show c.5805delA	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4679		chrX	TogoVar
SMIM11_chr21_34370507_34394151	34374050	CA CA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG03490.hp2 HG03669.hp1 others(3): Show HG01175.hp2 HG03490.hp2 HG03669.hp1 HG03831.hp2 HG04228.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0035	6	129	0.0465	-1	c.-15 others(6): Show c.-1594delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1456		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34378671	TG TG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(11): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0002c0002t0004 a0002c0002t0006	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	14	129	0.1085	-1	c.-77 others(8): Show c.-77-752delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34380939	TG TG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0041 a0001c0001t0001g0052	2	129	0.0155	-1	c.12+ others(8): Show c.12+1425delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34384366	TC TC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03471.hp2 NA19043.hp1 HG01952.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055	3	129	0.0233	-1	c.13- others(8): Show c.13-1111delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3			chr21	TogoVar
SMIM11_chr21_34370507_34394151	34387784	CT CT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02293.hp1 HG02735.hp1 others(11): Show HG01496.hp2 HG02293.hp1 HG02735.hp1 HG02809.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 NA19011.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0047 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0002g0018 a0001c0001t0011g0014	14	129	0.1085	-1	c.3- others(7): Show c.3-828delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34388487	TA TA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02155.hp2 HG01952.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0057 a0001c0001t0007g0022 a0001c0001t0004g0057 a0001c0001t0007g0022	2	129	0.0155	-1	c.3- others(7): Show c.3-139delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34388885	TG TG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 NA19056.hp2 HG01975.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0054 a0001c0001t0005g0028 a0001c0001t0005g0054	2	129	0.0155	-1	c.26 others(5): Show c.261delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3245	INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34389092	TA TA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01934.hp1 HG02080.hp1 others(3): Show HG01496.hp2 HG01934.hp1 HG02080.hp1 HG02155.hp2 HG03209.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010	a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0007g0022 a0001c0001t0010g0034	6	129	0.0465	-1	c.47 others(5): Show c.474delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3458	INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34389126	TA TA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp1 HG02155.hp2 HG02080.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0022 a0001c0001t0010g0034 a0001c0001t0007g0022 a0001c0001t0010g0034	2	129	0.0155	-1	c.50 others(5): Show c.504delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3488	INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34389368	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02071.hp2 HG01496.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0018 a0001c0001t0001g0017 a0001c0001t0002g0018	2	129	0.0155	-1	c.74 others(5): Show c.743delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		218		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34389749	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(126): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18983.hp1 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0003t0008 a0002c0002t0004 a0002c0002t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0028 a0001c0001t0005g0054 a0001c0001t0007g0022 a0001c0001t0009g0007 a0001c0001t0010g0034 a0001c0001t0011g0014 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	129	129	1.0000	-1	c.11 others(6): Show c.1124delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		599		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34390362	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02155.hp2 NA19056.hp1 HG01074.hp1 HG02155.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0006 a0001c0001t0001 a0001c0001t0007 a0002c0002t0006	a0001c0001t0001g0004 a0001c0001t0007g0022 a0002c0002t0006g0053 a0001c0001t0001g0004 a0001c0001t0007g0022 a0002c0002t0006g0053	3	129	0.0233	-1	c.17 others(6): Show c.1737delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1212		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34390670	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG04204.hp2 NA18612.hp1 HG03831.hp2 HG04204.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0002g0020 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0002g0020	3	129	0.0233	-1	c.20 others(6): Show c.2045delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1520		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34390704	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG04204.hp2 NA18612.hp1 HG03239.hp2 HG04204.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0002g0020 a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0002g0020	3	129	0.0233	-1	c.20 others(6): Show c.2079delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1554		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34390787	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02004.hp2 HG03831.hp2 HG01975.hp2 HG02004.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0005g0054 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0005g0054	3	129	0.0233	-1	c.21 others(6): Show c.2162delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1637		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34390813	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02630.hp1 HG01952.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0004g0057 a0001c0001t0001g0005 a0001c0001t0004g0057	2	129	0.0155	-1	c.21 others(6): Show c.2188delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1663		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34390902	AG AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02698.hp1 HG01074.hp1 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0003 a0002c0002t0006g0053 a0001c0001t0001g0003 a0002c0002t0006g0053	2	129	0.0155	-1	c.22 others(6): Show c.2277delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1752		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34390913	GA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19056.hp1 NA19011.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0004 a0001c0001t0011g0014 a0001c0001t0001g0004 a0001c0001t0011g0014	2	129	0.0155	-1	c.22 others(6): Show c.2288delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1763		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391042	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02004.hp2 HG01975.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0039 a0001c0001t0005g0054 a0001c0001t0001g0039 a0001c0001t0005g0054	2	129	0.0155	-1	c.24 others(6): Show c.2417delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1892		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391147	AG AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02071.hp2 HG02273.hp1 others(1): Show HG02004.hp2 HG02071.hp2 HG02273.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0048	4	129	0.0310	-1	c.25 others(6): Show c.2522delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1997		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391265	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA19011.hp2 HG02155.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0022 a0001c0001t0011g0014 a0001c0001t0007g0022 a0001c0001t0011g0014	2	129	0.0155	-1	c.26 others(6): Show c.2640delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2115		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391296	AC AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02273.hp1 HG02155.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0048 a0001c0001t0007g0022 a0001c0001t0001g0048 a0001c0001t0007g0022	2	129	0.0155	-1	c.26 others(6): Show c.2671delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2146		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391328	AC AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18747.hp2 NA18522.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0001 a0001c0001t0001g0025	2	129	0.0155	-1	c.27 others(6): Show c.2703delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2178		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391477	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02698.hp2 HG00735.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	2	129	0.0155	-1	c.28 others(6): Show c.2852delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2327		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391500	GA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 NA18612.hp1 HG01934.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0020 a0001c0001t0001g0004 a0001c0001t0002g0020	2	129	0.0155	-1	c.28 others(6): Show c.2875delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2350		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391760	GA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02300.hp1 HG00735.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	2	129	0.0155	-1	c.31 others(6): Show c.3135delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2610		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391769	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 NA19011.hp1 HG02559.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0001 a0001c0001t0001g0037	2	129	0.0155	-1	c.31 others(6): Show c.3144delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2619		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391798	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA19011.hp2 HG01109.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0011g0014 a0001c0001t0001g0003 a0001c0001t0011g0014	2	129	0.0155	-1	c.31 others(6): Show c.3173delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2648		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391814	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA18747.hp2 NA18955.hp2 HG00735.hp2 NA18747.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	3	129	0.0233	-1	c.31 others(6): Show c.3189delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2664		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391941	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02293.hp2 NA18747.hp2 HG00735.hp1 HG02293.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	3	129	0.0233	-1	c.33 others(6): Show c.3316delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2791		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34391972	AG AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG04115.hp2 NA18522.hp1 HG01952.hp1 HG04115.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0004g0057 a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0004g0057	3	129	0.0233	-1	c.33 others(6): Show c.3347delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2822		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392004	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 NA18955.hp1 HG02293.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0001 a0001c0001t0001g0047	2	129	0.0155	-1	c.33 others(6): Show c.3379delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2854		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392035	CG CG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02698.hp2 NA18612.hp1 others(1): Show HG02155.hp2 HG02698.hp2 NA18612.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0002g0020 a0001c0001t0007g0022 a0001c0001t0001g0001 a0001c0001t0002g0020 a0001c0001t0007g0022	4	129	0.0310	-1	c.34 others(6): Show c.3410delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2885		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392056	AC AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 NA18955.hp1 HG01074.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	129	0.0155	-1	c.34 others(6): Show c.3431delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2906		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392069	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01928.hp2 HG01934.hp2 others(1): Show HG01517.hp1 HG01928.hp2 HG01934.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0007g0022 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0007g0022	4	129	0.0310	-1	c.34 others(6): Show c.3444delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		2919		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392222	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03471.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	2	129	0.0155	-1	c.35 others(6): Show c.3597delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3072		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392315	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02559.hp2 HG02647.hp1 HG00735.hp2 HG02559.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	129	0.0233	-1	c.36 others(6): Show c.3690delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3165		chr21	TogoVar

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