Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MYT1_chr20_64159452_64247253	64175131	TAGCATCT others(96): Show TAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTC CTGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	127	0.0079	-103	c.-99 others(19): Show c.-99+10421_-99+10523del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241805899	TCCCTCCC others(96): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAG GCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA19068.hp2 HG00673.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0041 a0001c0004t0001g0012 a0001c0001t0001g0041 a0001c0004t0001g0012	2	318	0.0063	-103	c.-33 others(11): Show c.-3378_-3276del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3293		chr2	TogoVar
NFKB1_chr4_102496359_102622302	102620122	GCATCAAC others(96): Show GCATCAACCAAGAGATGTGTAAGGGAGTGAAGCTTTCAGAAGATTCCAGC CCTCAGCCATTGAGTCACCCCATCTAGCCCTCAAACTGCCTCAGCTGATG CCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00597.hp1 others(90): Show HG00140.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18945.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19030.hp2 NA19054.hp2 NA19064.hp1 NA19065.hp1 NA19077.hp2 NA19078.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0006t0004 a0003c0005t0004	a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0106 others(89): Show a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0293 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0308 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0245 a0001c0001t0003g0280 a0001c0001t0003g0302 a0001c0001t0003g0307 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0004g0003 a0001c0001t0004g0017 a0001c0001t0004g0021 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0056 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0141 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0309 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0007g0230 a0001c0001t0011g0108 a0001c0002t0003g0043 a0001c0002t0004g0227 a0001c0002t0006g0220 a0001c0002t0006g0222 a0001c0002t0006g0223 a0001c0002t0006g0224 a0001c0002t0006g0225 a0001c0002t0006g0226 a0001c0002t0008g0229 a0001c0002t0009g0228 a0001c0006t0004g0143 a0003c0005t0004g0311 a0003c0005t0004g0312	93	326	0.2853	-103	c.35 others(11): Show c.3529_*3631del		NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding					2821		chr4	TogoVar
NGEF_chr2_232873701_233018256	232995037	CAGTATGT others(96): Show CAGTATGTATACTGTATATATGTACAGTATGTATACTGTATATGTGTACA GTATGTATATGTGTACAGTATGTATATGTGTACAGTATGTATATATGTAC AGTA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0010 a0001c0012t0010	a0001c0012t0010g0105 a0001c0012t0010g0105	1	360	0.0028	-103	c.-75 others(19): Show c.-75+17928_-75+18030del		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NLGN4Y_chrY_14519529_14850654	14566697	CCCCAAAT others(96): Show CCCCAAATCAACAGAATATACATTCTTCTCAGCACCACATCACACTTATT CTATAATGGACCACAGAACTGCAAGTAAAACACTCCTTAGCAAATGCTCT CCAT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18944.hp1 NA18948.hp1 others(15): Show NA18940.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18983.hp1 NA18988.hp1 NA18995.hp1 NA19004.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0002t0001g0003 a0001c0002t0001g0005	18	119	0.1513	-103	c.-11 others(21): Show c.-112+42050_-112+42152del		NLGN4Y	ENSG00000165246.15	transcript	ENST00000684976.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chrY	TogoVar
OPCML_chr11_132409981_133537501	133458495	CGTGTGTG others(96): Show CGTGTGTGTGTATATACACATATATACACTGTGTGTGTATACACATATAT ACACGTGTGTGTGTATACACATATATACACGTGTGTGTACACATATATAC ACGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	66	0.0152	-103	c.61+ others(17): Show c.61+73666_61+73768del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OXTR_chr3_8745381_8774613	8755148	CAGAAATA others(96): Show CAGAAATAATGAAAGAGGCAAAAATCAACGTGCAAAAGTCAATATTTACA ACCTACCAGCCACAAAGGGAAGGTTCGCCCACAAGACTAAAACCAGAATG TCTT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0205 a0002c0003t0002g0205	1	472	0.0021	-103	c.923 others(17): Show c.923-2027_923-1925del		OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding	3/3						chr3	TogoVar
PAQR5_chr15_69293912_69412780	69300599	TTCTTTCT others(96): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTC TCTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0247 a0001c0003t0011g0247	1	282	0.0035	-103	c.-27 others(19): Show c.-277+1590_-277+1692del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARVB_chr22_44019302_44177939	44114491	GCACAGAT others(96): Show GCACAGATATATTGTTACTAAGGCCCTGTACCAACACAGATACATTGTTA CTAACTAAGGCCCTGCACCAACACAGATATGTTGTTACTAAGGCCCTGCA CCAA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	319	0.0031	-103	c.274 others(17): Show c.274-4538_274-4436del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PIR_chrX_15379799_15498333	15393716	ATCTGTCA others(96): Show ATCTGTCACTGTCTCCCATCAACCCCGGATGGGACCATCTAGTTGCAGGA AAACAAATTCAGGGCTCCTACTGATTCTACATTATGGTGAGTTATAGAAT TATT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	269	0.0037	-103	c.694 others(17): Show c.694-3568_694-3466del		PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	8/9						chrX	TogoVar
POLR2H_chr3_184356710_184373591	184367935	TCTGTGCA others(96): Show TCTGTGCATTGATGTTTGTCAGAATTTTGGTTCCTAGTGACAAAACAGTA GGAAGATGCCTCTTCTGTTTCTTAGGCTGAGATGGAACAGTGCCTTGCAC ATAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG00741.hp2 others(50): Show HG00597.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01433.hp1 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19076.hp2 NA19078.hp2 NA19085.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0020 others(11): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0006g0004	53	430	0.1233	-103	c.336 others(15): Show c.336-229_336-127del		POLR2H	ENSG00000163882.10	transcript	ENST00000456318.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
POR_chr7_75910155_75991855	75988729	GCTGGAGG others(96): Show GCTGGAGGGGAAGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGGGTGG GGGGCTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGG GGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG03834.hp2 HG01081.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0146 a0001c0002t0001g0067 a0001c0002t0001g0146	2	276	0.0072	-103	c.22 others(11): Show c.2249_*2351del		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					1875		chr7	TogoVar
PRDM15_chr21_41793225_41884344	41855896	TCCTTCCT others(96): Show TCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCC TTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCC CCTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp2 others(33): Show HG00438.hp1 HG00558.hp2 HG00597.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01261.hp1 HG01358.hp1 HG02015.hp1 HG02027.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG03654.hp2 HG03688.hp2 NA18612.hp2 NA18939.hp2 NA18951.hp2 NA18975.hp1 NA18977.hp1 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19067.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0019 a0001c0036 a0001c0056 a0002c0050 a0009c0047	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0002t0002 a0001c0003t0001 a0001c0003t0033 a0001c0004t0003 a0001c0008t0001 a0001c0019t0022 a0001c0036t0001 a0001c0056t0004 a0002c0050t0005 a0009c0047t0001	a0001c0001t0002g0199 a0001c0001t0004g0004 a0001c0001t0004g0173 others(32): Show a0001c0001t0002g0199 a0001c0001t0004g0004 a0001c0001t0004g0173 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0388 a0001c0001t0009g0106 a0001c0001t0011g0216 a0001c0002t0002g0089 a0001c0003t0001g0028 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0033g0068 a0001c0004t0003g0111 a0001c0004t0003g0249 a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0019t0022g0075 a0001c0019t0022g0076 a0001c0036t0001g0064 a0001c0056t0004g0205 a0002c0050t0005g0202 a0009c0047t0001g0201	36	392	0.0918	-103	c.285 others(17): Show c.285+1177_286-1079del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23						chr21	TogoVar
PRKAG2_chr7_151551127_151882115	151855385	ACACACAC others(96): Show ACACACACCATCCACACACCACCCTCCACATACACCATGCTCCACACACA CCGCCCTCCACACACACCATCCTCCACACACACCATGCTCCACACACCAC CCTC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18962.hp2 HG02135.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0202 a0001c0001t0003g0200 a0001c0001t0001g0202 a0001c0001t0003g0200	2	247	0.0081	-103	c.114 others(19): Show c.114+21019_114+21121del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRR5L_chr11_36291288_36470204	36351458	TATATATT others(96): Show TATATATTTATATATACATATATATTTATATATTTATATATATTTTTATA TATTTATATATATTTATATATTTATATAAATATATATTTATATATATTTA TATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00609.hp2 others(24): Show HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00673.hp2 HG01175.hp2 HG01928.hp1 HG02004.hp1 HG02083.hp2 HG02622.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp2 NA18965.hp2 NA19000.hp1 NA19054.hp1 NA19057.hp1 NA19068.hp1 NA19077.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0002c0005 a0003c0006 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0004t0002 a0001c0004t0007 a0001c0007t0001 a0002c0003t0001 a0002c0005t0001 a0003c0006t0001 a0005c0011t0002	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0084 others(24): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0134 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0205 a0001c0001t0001g0265 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0003g0129 a0001c0002t0001g0018 a0001c0002t0001g0051 a0001c0002t0001g0078 a0001c0002t0001g0175 a0001c0002t0005g0059 a0001c0004t0002g0079 a0001c0004t0007g0133 a0001c0007t0001g0017 a0001c0007t0001g0137 a0002c0003t0001g0060 a0002c0003t0001g0144 a0002c0005t0001g0204 a0003c0006t0001g0132 a0005c0011t0002g0143	27	261	0.1034	-103	c.-12 others(21): Show c.-125-49538_-125-49436del		PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8						chr11	TogoVar
PTGES2_chr9_128115693_128132729	128118804	AGGAGGGG others(96): Show AGGAGGGGTGCAGGGATGGAGGGATGGAGGGGTGCAGGGACAGAGGGATG CAGGGATGGAGGGATGGAAGGGTACAGGGATGGAGGGTGCAGGGATGGAA GGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01074.hp1 others(75): Show HG00558.hp1 HG00738.hp1 HG01074.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03669.hp1 HG03710.hp2 HG03942.hp1 HG04228.hp2 NA18612.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18956.hp2 NA18961.hp1 NA18963.hp1 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0007 a0006c0008 a0001c0001 a0005c0007 a0006c0008	a0001c0001t0001 a0001c0001t0004 a0005c0007t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0005c0007t0002 a0006c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0004g0040 a0005c0007t0002g0029 a0006c0008t0001g0062	78	361	0.2161	-103	c.22 others(11): Show c.2238_*2340del		PTGES2	ENSG00000148334.16	transcript	ENST00000338961.11	protein_coding					1888		chr9	TogoVar
RAB40C_chr16_585066_634268	612023	TGCCTGTA others(96): Show TGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGCATCAAG AGCAAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGC CCTG	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	328	0.0030	-103	c.143 others(17): Show c.143-5185_143-5083del		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5						chr16	TogoVar
RAB40C_chr16_585066_634268	612330	GGCCTGTA others(96): Show GGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGATTCAAG AGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGC CTTC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	318	0.0031	-103	c.143 others(125): Show c.143-4878_143-4775delGGCCTGTAGAATCAAGAGCAGGGACAGC CGCCCTGGCCTGTAGATTCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGA ATCAAGAGCAAGGGACAGCCGCCTTCinsT		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5						chr16	TogoVar
REXO5_chr16_20801527_20854665	20820511	TTTATATA others(96): Show TTTATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGC AGGA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-103	c.476 others(17): Show c.476-1250_476-1148del		REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19						chr16	TogoVar
RPGRIP1L_chr16_53593153_53708859	53679544	GCATGTGC others(96): Show GCATGTGCCACCACACCTGGCAGGAATCTGAACCTTACAGTCAATATTTC AGAAAGCCCAATAAGAAACATACATTTACTGGCAATGAAGTTGCAAAACT GAAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00597.hp1 others(55): Show HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG01109.hp2 HG01192.hp2 HG01257.hp2 HG01515.hp1 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02523.hp1 HG03490.hp1 HG03942.hp2 HG04115.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2	a0002 a0012 a0015 a0002 a0012 a0015	a0002c0002 a0002c0020 a0012c0024 others(1): Show a0002c0002 a0002c0020 a0012c0024 a0015c0015	a0002c0002t0001 a0002c0002t0011 a0002c0002t0016 others(4): Show a0002c0002t0001 a0002c0002t0011 a0002c0002t0016 a0002c0002t0017 a0002c0020t0001 a0012c0024t0001 a0015c0015t0015	a0002c0002t0001g0011 a0002c0002t0001g0143 a0002c0002t0001g0144 others(55): Show a0002c0002t0001g0011 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0011g0186 a0002c0002t0016g0183 a0002c0002t0017g0199 a0002c0020t0001g0152 a0012c0024t0001g0157 a0015c0015t0015g0151	58	362	0.1602	-103	c.777 others(17): Show c.777-4525_777-4423del		RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	6/26						chr16	TogoVar
RTP5_chr2_241864729_241878823	241875098	GGGGGCCC others(96): Show GGGGGCCCAACTGCAGGGATGAGGGTCCAGGAGAAACCAGAATCCAGGCC TCGGGGGCCCAACTGCAGGGATGAGGGTCCAGGAGAAACCAGAATCCAGG CCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0027 a0001c0001t0029g0027	1	239	0.0042	-103	c.18 others(11): Show c.1825_*1927del		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					1276		chr2	TogoVar
SENP1_chr12_48037897_48111079	48056691	ATTATTTA others(96): Show ATTATTTAATATATTACATATTACATATATAAATATATTATTTAATATAT TACATATTACATATATAAATATATTTAACATATTACATATTACATATATA TTAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	372	0.0027	-103	c.140 others(19): Show c.1407+6916_1407+7018del		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SH2D1A_chrX_124341563_124378160	124350329	AATATATA others(96): Show AATATATAATATATAAATATATATTATATATAATATTATATAATATATAA TATATAAATATATATTATATACTATATATAATATATAAATATATATTATA TACT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG02970.hp1 others(2): Show HG00735.hp1 HG01433.hp1 HG02970.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0005g0147 a0001c0001t0005g0148	5	278	0.0180	-103	c.137 others(17): Show c.137+3580_137+3682del		SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792043	ATAGAATA others(96): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(38): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG02004.hp1 HG02056.hp1 HG02155.hp2 HG02165.hp1 HG02698.hp1 HG02723.hp1 HG03041.hp1 HG03139.hp1 HG03471.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 NA18941.hp2 NA18944.hp1 NA18969.hp2 NA19010.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0013 a0023 a0037 a0038 a0039 a0044 a0046	a0001c0001 a0001c0003 a0001c0007 others(18): Show a0001c0001 a0001c0003 a0001c0007 a0001c0012 a0001c0013 a0002c0002 a0002c0006 a0002c0011 a0002c0014 a0002c0019 a0002c0047 a0003c0004 a0003c0005 a0003c0009 a0013c0050 a0023c0059 a0037c0044 a0038c0031 a0039c0066 a0044c0051 a0046c0062	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(21): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0003t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001 a0002c0002t0002 a0002c0006t0002 a0002c0011t0005 a0002c0014t0002 a0002c0019t0006 a0002c0047t0002 a0003c0004t0002 a0003c0004t0003 a0003c0005t0003 a0003c0009t0003 a0013c0050t0001 a0023c0059t0001 a0037c0044t0002 a0038c0031t0001 a0039c0066t0019 a0044c0051t0001 a0046c0062t0002	a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 others(38): Show a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0185 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0015g0225 a0001c0001t0016g0228 a0001c0003t0001g0108 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0214 a0001c0007t0001g0110 a0001c0012t0001g0158 a0001c0013t0001g0112 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0006t0002g0149 a0002c0011t0005g0222 a0002c0014t0002g0105 a0002c0019t0006g0227 a0002c0047t0002g0156 a0003c0004t0002g0155 a0003c0004t0003g0107 a0003c0005t0003g0152 a0003c0009t0003g0154 a0013c0050t0001g0178 a0023c0059t0001g0157 a0037c0044t0002g0209 a0038c0031t0001g0007 a0039c0066t0019g0184 a0044c0051t0001g0252 a0046c0062t0002g0226	41	231	0.1775	-103	c.165 others(17): Show c.165+5334_165+5436del		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9						chrX	TogoVar
SLC27A5_chr19_58493333_58516992	58502150	GGACAGAG others(96): Show GGACAGAGTAGTGAGTGAGTAGATGGATGGGTGAACAGTTAGAGTAGTGA GTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGAT GGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19030.hp2 HG01109.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0023 a0001c0006t0001g0023	2	421	0.0048	-103	c.105 others(17): Show c.1058-843_1058-741del		SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9						chr19	TogoVar
SLC47A2_chr17_19673317_19721584	19721186	GTCCGCCC others(96): Show GTCCGCCCCCTGCCTCGTCCCCCAGGTCTCCCACCAGACAGTGACCAACA ACTGCTAAATCCCTGAGGCGCCCCTCCTCCACTCCTCCTCAACTGTCTCA TAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	364	0.0027	-103	c.-47 others(11): Show c.-4734_-4632del		SLC47A2	ENSG00000180638.19	transcript	ENST00000433844.4	protein_coding					4603		chr17	TogoVar
SLC9A3_chr5_465456_529449	474292	AGAGAGAG others(96): Show AGAGAGAGAGCGAGCCAGGTTCAGGTCCAGGGAGGAGAGAGACAGCGCGC GCGAGGCGGAGACCTGGAGGGAGAGGAGCTGCGGAGAGGGGTTAGGCGGG GAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(102): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00642.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18963.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0009	a0001c0001 a0001c0007 a0001c0008 others(8): Show a0001c0001 a0001c0007 a0001c0008 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0031 a0003c0014 a0007c0022 a0009c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0007t0001 a0001c0007t0005 a0001c0008t0005 a0001c0008t0018 a0001c0020t0004 a0001c0021t0032 a0001c0024t0004 a0001c0025t0001 a0001c0031t0004 a0003c0014t0001 a0007c0022t0005 a0009c0017t0004	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 others(102): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0055 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0138 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0190 a0001c0001t0005g0205 a0001c0001t0010g0062 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0011g0116 a0001c0001t0011g0154 a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0001t0017g0003 a0001c0001t0023g0074 a0001c0001t0024g0119 a0001c0001t0030g0169 a0001c0001t0031g0198 a0001c0001t0033g0188 a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0007t0005g0187 a0001c0008t0005g0216 a0001c0008t0018g0124 a0001c0020t0004g0102 a0001c0021t0032g0204 a0001c0024t0004g0140 a0001c0025t0001g0083 a0001c0031t0004g0159 a0003c0014t0001g0160 a0003c0014t0001g0162 a0007c0022t0005g0210 a0009c0017t0004g0123	105	211	0.4976	-103	c.250 others(17): Show c.2501+488_2501+590del		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16						chr5	TogoVar
SMC6_chr2_17658812_17758810	17734460	TATGAGGG others(96): Show TATGAGGGGAAGGGCGGCTGGCCTCTGATAATGTAGCTAATGAATATTTT ATTTCATTAGCTAGTATGATTACTTGGCATTAAGTTACAGTACCTCATGA AAAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0012 a0001c0006t0010g0012	1	252	0.0040	-103	c.345 others(17): Show c.345-2686_345-2584del		SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	5/27						chr2	TogoVar
SMCO4_chr11_93473472_93548391	93531305	TTCCTGGG others(96): Show TTCCTGGGTCTCAAGCCTGCTGGCTTTTGGACTAGAACTTACACCATTGG CTCTTCTGGAACTCAAGGTCTCAGTACCTGGATTGGAACTGACACCATTG GCTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	410	0.0024	-103	c.-15 others(21): Show c.-154+11868_-154+11970del		SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2						chr11	TogoVar
SMURF2_chr17_64537282_64667307	64609609	TACAAAAA others(96): Show TACAAAAATTAACTCGAGATACATTAAAGACTTAAACGTAAGACTTAAAA CCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACACAGGC ACGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp2 HG02109.hp2 others(22): Show HG01099.hp2 HG01884.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG04184.hp2 NA18906.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0027 a0001c0003t0002 a0001c0003t0003 a0003c0006t0008	a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0160 others(22): Show a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0167 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0009g0159 a0001c0001t0009g0166 a0001c0001t0009g0173 a0001c0001t0010g0021 a0001c0001t0015g0002 a0001c0001t0027g0144 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0142 a0001c0003t0003g0141 a0001c0003t0003g0143 a0003c0006t0008g0044	25	172	0.1453	-103	c.53- others(15): Show c.53-3072_53-2970del		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18						chr17	TogoVar
SNRPD3_chr22_24550999_24579971	24559969	GTCTTCAC others(96): Show GTCTTCACTTGGTCTTCCCTCTGTAGTGTTTCTGTCCAGATTCTTCTTAT AAGGATACCATGCATGTAGGATTAGGGCCCACTCTAATGACTTCATCTTA ACAT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0197 a0001c0001t0019g0197	1	397	0.0025	-103	c.126 others(17): Show c.126+2170_126+2272del		SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3						chr22	TogoVar
SNTG2_chr2_945849_1372613	1106308	ATGGAGAG others(96): Show ATGGAGAGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGTGCAGGG TATGGAGAGCTCCTTGGTAATAGTGGATGCGTGCTGTCACTCGGGTGCAG GGTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0149 a0004c0004t0001g0149	1	135	0.0074	-103	c.325 others(17): Show c.325+7941_325+8043del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPON1_chr11_13957723_14273133	14160390	TTTATATA others(96): Show TTTATATATATATTTATATATATATATTTATATATATATATTTATATATA TATTTATATATATATTTATATATATATATTTATATATATATTTATATATA TATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	222	0.0045	-103	c.825 others(19): Show c.825+24825_825+24927del		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
STARD13_chr13_33098137_33290755	33177772	GAAGGAAG others(96): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp1 HG02895.hp1 others(1): Show HG01106.hp2 HG02572.hp1 HG02895.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0027 a0001c0001 a0001c0002 a0001c0027	a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0027t0004	a0001c0001t0004g0267 a0001c0001t0015g0006 a0001c0002t0001g0176 others(1): Show a0001c0001t0004g0267 a0001c0001t0015g0006 a0001c0002t0001g0176 a0001c0027t0004g0277	4	300	0.0133	-103	c.170 others(19): Show c.170-10253_170-10151del		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
STIM1_chr11_3850664_4098208	3895738	TTCTTTCT others(96): Show TTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTTCTTTCCTTCCTTCTTTCTTTTCTTTCTTTC TTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19011.hp2 HG02258.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0285 a0001c0001t0008g0159 a0001c0001t0003g0285 a0001c0001t0008g0159	2	287	0.0070	-103	c.139 others(19): Show c.139+39338_139+39440del		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STON1_chr2_48525154_48603513	48564405	GTCTTCTT others(96): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTC TTCT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0287 a0001c0003t0005g0287	1	353	0.0028	-103	c.-47 others(19): Show c.-47-16121_-47-16019del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564481	TTCTTCTT others(96): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCT CCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0368 a0001c0008t0004g0368	1	350	0.0029	-103	c.-47 others(19): Show c.-47-16105_-47-16003del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3						chr2	TogoVar
SUMO2_chr17_75160586_75187959	75185331	ACCTGAGG others(96): Show ACCTGAGGTCAGGAGTTTGAGACCAGACTAGCCAACATGGTGAAACCCTC TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGATGG ATTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03239.hp2 HG03225.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0202 a0001c0001t0003g0137 a0001c0001t0003g0202	2	396	0.0051	-103	c.-26 others(11): Show c.-2600_-2498del		SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding					2373		chr17	TogoVar
SUMO2_chr17_75160586_75187959	75185420	GAGGCGGA others(96): Show GAGGCGGATGGATTGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAAC ATGGTGAAACCCTCTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	396	0.0025	-103	c.-26 others(11): Show c.-2689_-2587del		SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding					2462		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46859090	TGTGCCCC others(96): Show TGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAG TGCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	97	0.0103	-103	c.638 others(19): Show c.638-19379_638-19277del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859480	CCATAGAG others(96): Show CCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTT TCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTT TTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	110	0.0091	-103	c.638 others(19): Show c.638-19172_638-19070del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12						chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860148	CATAGAGG others(96): Show CATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT TTTG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	82	0.0122	-103	c.638 others(19): Show c.638-18469_638-18367del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860211	CGCAGTGC others(96): Show CGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTC CGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGT CCGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG02895.hp1 others(1): Show HG02451.hp2 HG02809.hp1 HG02895.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0021g0103	4	112	0.0357	-103	c.638 others(19): Show c.638-18382_638-18280del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628118	CAGGGGAT others(96): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0072 a0001c0003t0072	a0001c0003t0072g0238 a0001c0003t0072g0238	1	232	0.0043	-103	c.299 others(15): Show c.299-795_299-693del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCHH_chr1_152101317_152120444	152111959	TCAGCTGC others(96): Show TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCG CGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTG CTCG	T T	frameshift_variant frameshift_variant	HIGH	HG02486.hp1 HG02486.hp1	a0036 a0036	a0036c0064 a0036c0064	a0036c0064t0007 a0036c0064t0007	a0036c0064t0007g0049 a0036c0064t0007g0049	1	394	0.0025	-103	c.115 others(9): Show c.1155_1257del	p.Glu others(5): Show p.Glu386fs	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1342/6985	1155/5832	385/1943			chr1	TogoVar
THEG_chr19_356747_381026	377034	GCCCCACC others(96): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0160 a0012c0019t0001g0160	1	331	0.0030	-103	c.-11 others(11): Show c.-1167_-1065del		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1009		chr19	TogoVar
THEG_chr19_356747_381026	377387	CCCCCTCT others(96): Show CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02165.hp1 HG02135.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0276 a0001c0001t0001g0283	2	366	0.0055	-103	c.-15 others(11): Show c.-1520_-1418del		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1362		chr19	TogoVar
THPO_chr3_184366935_184383207	184367935	TCTGTGCA others(96): Show TCTGTGCATTGATGTTTGTCAGAATTTTGGTTCCTAGTGACAAAACAGTA GGAAGATGCCTCTTCTGTTTCTTAGGCTGAGATGGAACAGTGCCTTGCAC ATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG00741.hp2 others(52): Show HG00597.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01433.hp2 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03710.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18991.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19055.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19076.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0002t0013 a0004c0009t0005	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0034 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0005g0006 a0001c0001t0005g0023 a0001c0001t0005g0042 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0049 a0001c0001t0005g0061 a0001c0001t0005g0079 a0001c0001t0005g0090 a0001c0001t0007g0011 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0086 a0001c0001t0010g0030 a0001c0001t0010g0088 a0001c0001t0010g0089 a0001c0001t0014g0073 a0001c0002t0013g0037 a0004c0009t0005g0044	55	434	0.1267	-103	c.44 others(11): Show c.4475_*4577del		THPO	ENSG00000090534.20	transcript	ENST00000647395.1	protein_coding					3999		chr3	TogoVar
TMEM120A_chr7_75981831_75999595	75988729	GCTGGAGG others(96): Show GCTGGAGGGGAAGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGGGTGG GGGGCTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGG GGGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03834.hp1 HG01081.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	365	0.0055	-103	c.378 others(15): Show c.378-316_378-214del		TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11						chr7	TogoVar
TMEM132C_chr12_128262170_128712911	128691854	CACCCATT others(96): Show CACCCATTCACCTGTCCACCCATCCATTCATGTGTCTGTCCATCAGTGTG TCCATCCACCCATCAGTTCATCTATCTATCCAGCTGTCTACCCATTTGTC CACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01070.hp1 others(13): Show HG00140.hp1 HG00639.hp1 HG01070.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02615.hp1 HG02622.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 NA18522.hp1 NA21309.hp1	a0003 a0004 a0005 others(4): Show a0003 a0004 a0005 a0006 a0008 a0028 a0033	a0003c0010 a0004c0008 a0004c0061 others(9): Show a0003c0010 a0004c0008 a0004c0061 a0005c0005 a0006c0011 a0006c0017 a0008c0021 a0008c0024 a0008c0025 a0008c0056 a0028c0075 a0033c0092	a0003c0010t0003 a0004c0008t0003 a0004c0061t0005 others(9): Show a0003c0010t0003 a0004c0008t0003 a0004c0061t0005 a0005c0005t0002 a0006c0011t0005 a0006c0017t0003 a0008c0021t0002 a0008c0024t0002 a0008c0025t0005 a0008c0056t0003 a0028c0075t0003 a0033c0092t0005	a0003c0010t0003g0070 a0003c0010t0003g0074 a0004c0008t0003g0010 others(13): Show a0003c0010t0003g0070 a0003c0010t0003g0074 a0004c0008t0003g0010 a0004c0061t0005g0044 a0005c0005t0002g0036 a0005c0005t0002g0065 a0006c0011t0005g0101 a0006c0017t0003g0018 a0006c0017t0003g0064 a0008c0021t0002g0165 a0008c0024t0002g0087 a0008c0025t0005g0012 a0008c0025t0005g0078 a0008c0056t0003g0156 a0028c0075t0003g0072 a0033c0092t0005g0021	16	168	0.0952	-103	c.145 others(19): Show c.1450-1872_1450-1770del		TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr12	TogoVar

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